NBME Pediatrics Form 5

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1) A previously healthy 17-year-old girl comes to the physician 4 days after her sexual partner was diagnosed with gonorrhea…

Intramuscular ceftriaxone and oral doxycycline

  • Key idea: Patients with suspected chlamydia or gonorrhea infection should be empirically treated for both (Ceftriaxone for gonorrhea and Azithromycin/Doxycycline for chlamydia)
  • Key idea: Confirmed gonorrhea treated with both ceftriaxone and azithromycin/doxycycline, whereas confirmed chlamydia can be treated with only azithromycin/doxycycline
  • Intramuscular penicillin –> Syphilis treatment

2) An 8-year-old boy is brought to the physician because of a 2-week history of rash and a 1-week history of low-grade fever and a mild…

Lyme disease

  • Young boy with a low-grade fever and a rash consistent with erythema chronica migrans (“bullseye rash”) which is basically pathognomonic for Lyme disease
  • Key idea: Early localized disease (rash, fatigue, headache, etc.) should be treated with doxycycline or with amoxicillin in children and pregnant woman (concern for bone/teeth abnormalities)
  • Key idea: Disseminated/late disease (multiple areas of rash, Bell’s palsy, meningitis, carditis, migratory arthralgias, encephalitis, etc.) should be treated with IV ceftriaxone
  • Kawasaki disease –> CRASH and burn (Conjunctivitis, Rash [desquamating], Adenopathy [cervical], Strawberry tongue, Hand-foot change, Fever for 5+ days)
  • Herpes simplex and herpes zoster –> Vesicular rash
  • Folliculitis and impetigo –> Pustular rash
  • Nevus flammeus –> “Stork patch” –> Vascular malformation on back of neck
  • Poison ivy dermatitis –> Linear vesicular rash (due to being scraped by bush)

3) Four hours after an elective cesarean delivery at 38 weeks’ gestation, a newborn has nasal flaring and tachypnea. There was no meconium…

Transient tachypnea of newborn

  • Key idea: Transient tachypnea of the newborn is the most likely cause of respiratory distress in a term infant especially following C-section delivery
  • Key idea: Transient tachypnea of newborn classically leads to bilateral perihilar linear streaking and tends to resolve by day 2 of life
  • Key idea: Pathophysiology is due to retained lung liquid with c-section NOT clearing fluid as compared to vaginal delivery –> perinatal epinephrine surge –> lung liquid absorption and mechanical drainage
  • Other causes of neonatal respiratory distress to consider –> Respiratory distress syndrome (preterm baby with insufficient surfactant production –> alveolar collapse with diffuse ground-glass appearance on chest x-ray), Persistent pulmonary hypertension (often seen in setting of meconium aspiration, lead to tachypnea and severe cyanosis)
  • Bronchopulmonary dysplasia –> Often seen in setting of chronic supplemental oxygen administration in a newborn

4) A 4-month-old girl is admitted to the hospital because of severe coughing for 2 days. The cough is episodic and staccato-like and often…

Droplet isolation

  • Infant girl who had rhinitis followed ~1 week later with severe cough leading to post-tussive vomiting and facial petechiae most likely due to B. pertussis infection
  • Key idea: Pertussis is highly contagious and patients with exposure (often household contacts) should be treated with a macrolide (most commonly azithromycin), but in this case it would be impractical to provide prophylactic medication to all healthcare workers and the focus should instead be on limiting risk of exposure through Droplet precautions
  • Key idea: B. pertussis classically leads to cough with an inspiratory “whoop”
  • Note: Staccato-like cough is most classically associated with Chlamydia pneumonia, but that is often associated with eosinophilia and classically presents ~6-8 weeks after birth

5) A 5-year-old boy is brought to the physician because of clumsiness and frequent falls over the past 6 months. He did not walk independently…

X-linked recessive

  • 5 year old boy with poor motor development, lower extremity weakness, calf pseudohypertrophy (fatty deposition in calves) and a positive Gower sign, most consistent with muscular dystrophy
  • Key idea: Both forms of muscular dystrophy (Duchenne and Becker) are X-linked recessive, meaning that they will almost exclusively be seen in boys
  • Duchenne MD –> More severe with onset ~1-5 years of age
  • Becker MD –> Less severe with onset in adolescence of early adulthood

6) A 10-year-old boy develops a rash on the chest 2 days after returning from a beach vacation. Over the next 2 weeks…

Psoriasis

  • Young boy who develops a widespread rash that is morphologically composed of plaques with overlying scale with fingernail involvement and a positive Auspitz sign (pinpoint bleeding after removing scale) all of which is consistent with psoriasis
  • Key idea: Psoriasis is the skin condition that classically demonstrates Koebner phenomenon, meaning that skin lesions will appear/worsen at sites of skin trauma; importantly solar sunburns (which this patient may have had) can also lead to skin trauma and precipitate appearance/worsening of psoriasis rash via Koebner phenomenon
  • Key idea: Fingernail involvement is classic for psoriasis and is a reminder of the association between psoriasis and psoriatic arthritis which tends to involve the DIP joints
  • Pityriasis rosea –> Herald patch followed by “Christmas tree” distribution of oval plaques on the back

7) A 3714-g (8-lb 3-oz) newborn is delivered at 43 weeks’ gestation to a 32-year-old woman, gravida 4, para 3. Apgar scores are…

Failure of pulmonary vasodilation

  • Post-term newborn with meconium-stained skin who is cyanotic and hypoxic with significant right-to-left shunting most concerning for Meconium aspiration syndrome complicated by Persistent Pulmonary Hypertension
  • Key idea: Meconium aspiration into lungs –> Increased inflammation in lungs –> Pulmonary vasoconstriction –> Hypoxia –> Increased pulmonary vasoconstriction –> More hypoxia –> etc.
  • Key idea: Increased pulmonary vascular resistance (because the vasculature in the lungs uniquely vasoconstricts in areas of hypoxia to shunt blood to more oxygen-rich portions of the lungs) –> Increased resistance of blood flow out of RV outflow tract –> Increased right-to-left shunting (BLOOD WILL FOLLOW THE PATH OF LEAST RESISTANCE!)
  • Key idea: Meconium-stained amniotic fluid most commonly seen in post-term babies
  • Key idea: 3 major causes of respiratory distress in a newborn are (1) Transient tachypnea of newborn (2) Respiratory distress syndrome (3) Persistent pulmonary hypertension
https://www.researchgate.net/figure/Pathophysiology-of-persistent-pulmonary-hypertension-of-newborn-PPHN-Acute-pulmonary_fig2_325145916

8) Twelve hours after undergoing circumcision, a 3-day-old boy has persistent bleeding at his circumcision site. He was born at…

Factor VIII deficiency

  • Baby boy with persistent bleeding at surgical site found to have a normal PT and an exceedingly elevated aPTT, most consistent with Hemophilia A (Factor 8 deficiency)
  • Key idea: Coagulation disorders lead to persistent bleeding at surgical sites and hemarthrosis, whereas platelet disorders more commonly leads to mucosal bleeds (nosebleeds, bleeding gums) and petechiae
  • Key idea: Hemophilia A (Factor 8 deficiency) and Hemophilia B (Factor 9 deficiency) are both X-linked, whereas Hemophilia C (Factor 11 deficiency) is autosomal recessive
  • Key idea: Hemophilia A is the most common of the hemophilias
  • Key idea: Common cause of bleeding in newborns is Vitamin K deficiency if they do not receive the Vitamin K shot at birth with the feared complication being intraventricular hemorrhage (altered mental status with increased head circumference)
  • von Willebrand disease –> Normal platelet count, increased bleeding time, upper limit of normal or high aPTT (because vWF is a carrier protein of Factor VIII)
https://fpnotebook.com/_media/pathClottingCascade.png

9) A 2-year-old boy is brought to the emergency department 30 minutes after he was found in his grandmother’s bedroom, surrounded by multiple…

Oxycodone

  • Child with suspected medication ingestion who presents with respiratory depression (normal respiratory rate in 2 year old is ~30), altered mental status and pinpoint pupils most consistent with opioid intoxication (oxycodone)
  • Aspirin overdose –> Early respiratory alkalosis followed by Anion-gap metabolic acidosis
  • Imipramine (TCA) overdose –> Anti-histamine effects (altered mental status), anti-alpha 1 effects (hypotension, tachycardia), anti-cholinergic effects (dry mouth, urinary retention) and widened QRS on ECG –> Treated with IV sodium bicarbonate
  • Iron overdose –> GI symptoms (abdominal pain + hematemesis + diarrhea) with visualization of radiopaque pills on x-ray
  • Phenobarbitol overdose –> Altered mental status primarily

10) A 13-year-old girl is brought to the physician because of a 2-week history of mild neck tenderness. She has not had fever, fatigue, sensitivity to hot…

Chronic lymphocytic (Hashimoto) thyroiditis

  • Adolescent girl with family history of autoimmune disease who presents with diffusely enlarged thyroid gland with increased anti-TPO antibody levels without clinical or laboratory symptoms of thyroid dysfunction most consistent with early Hashimoto thyroiditis
  • Key idea; Goiter is often the first sign of Hashimoto thyroiditis and can present months before onset of thyroid hormone alterations
  • Key idea: Hashimoto’s thyroiditis associated with anti-TPO, anti-thyroglobulin and anti-microsomal antibodies

11) A 1-month old boy is brought for a well-child examination. He was born at term following an uncomplicated pregnancy. Fifteen minutes…

Decreased pulmonary vascular resistance

  • Key idea: Pulmonary vascular resistance is exceedingly high in utero because blood is shunted through the foramen ovale from the RA –> LA, and therefore the pulmonary vascular resistance will still be quite high at birth and will steadily decrease over the first several days of life as the lungs and their vasculature open up
  • Key idea: If a patient has a VSD (which leads to left –> right shunting), the amount of shunting will be low at birth because of the high pulmonary vascular resistance, with an increasing amount of shunting as pulmonary vascular resistance decreases because that makes it more favorable for shunting to occur (BLOOD WILL FOLLOW THE PATH OF LEAST RESISTANCE!)
  • Key idea: Most common congenital heart defect is a ventricular septal defect which classically leads to a holosystolic murmur along the left sternal border and does NOT lead to early cyanosis (because it leads to left –> right shunting)

12) An 11-year-old girl with spina bifida is brought to the physician because of right thigh pain for 2 days. She is paraplegic and has limited…

X-ray of the lower extremity

  • Adolescent girl with numbness below the waist presents with thigh pain with associated swelling which should be worked up with a lower extremity x-ray to rule out fracture
  • Key idea: Because the patient has sensory abnormality, we cannot solely rely on her perception of pain to determine how concerned we are about the presentation

13) A 14-year-old boy with a cardiac murmur is brought to the physician for a school physical examination. He reports that during this past…

Left ventricular volume overload

  • Adolescent boy with a diastolic blowing murmur at the upper right sternal border presenting with exertional shortness of breath, widened pulse pressure and bounding pulses most consistent with aortic regurgitation –> LV volume overload
  • Aortic stenosis –> Systolic ejection murmur at right 2nd intercostal space
  • Aortic regurgitation –> Blowing diastolic murmur at right 2nd intercostal space
  • Mitral regurgitation –> Holosystolic mumur at the cardiac apex +/- radiation to the axillae
  • Mitral stenosis –> Diastolic click followed by a decrescendo murmur at the cardiac apex

14) A previously healthy 13-month-old boy is brought to the emergency department 1 hour after the acute onset of mild difficulty breathing…

Endoscopic examination of the patient’s airway

  • Key idea: Afebrile child with no history of atopy who presents with dyspnea, cough and focal wheezing REFRACTORY to albuterol should make you highly suspicious for foreign body aspiration
  • Key idea: Chest x-ray is NOT FULLY SENSITIVE for detection of foreign body and therefore if the remainder of the clinical picture is compatible (such as in this case), then you should proceed with endoscopic evaluation to determine what was aspirated and to remove it if needed (https://pubmed.ncbi.nlm.nih.gov/23472427/)
  • Key idea: Most aspirated items will lodge in the right airway/lung because the right bronchus is wider and more vertically oriented –> Right lung hyperinflation and wheezes on the right
  • Oral steroids –> Asthma attack (diffuse wheezing in patient with atopy)
  • Subcutaneous epinephrine –> Anaphylactic shock (pronounced hypotension and urticarial rash following exposure)

15) A 3-year-old girl is brought to the physician because of a 2-week history of cough and nasal congestion. Her parents say that…

Adenoidectomy and tonsillectomy

  • Young child who is excessively tired and irritable who also snores and is found to have enlarged tonsils/adenoids found on work-up to have signs of cor pulmonale (pulmonary hypertension in the setting of lung disease) who therefore needs treatment through removal of the tonsils/adenoids to avoid long-term complications
  • Key idea: Most common cause of OSA in children is tonsillar/adenoid hypertrophy, whereas in adults most common cause is excessive soft tissue in setting of obesity
  • Pathophysiological concept: Most of the capillary beds in the body will respond to hypoxia through vasodilation to increase blood flow to those areas; the one exception is the lungs which will vasoconstrict in setting of hypoxia to divert blood flow to more well-oxygenated portions of the lung, but this becomes a problem if oxygen tension is low throughout the lungs –> Diffuse vasoconstriction –> Increased pulmonary vascular resistance –> Increased RV afterload –> Pulmonary hypertension
  • Pulmonary vasodilator therapy –> Useful in pulmonary ARTERIAL hypertension (genetic disease that commonly presents as a young woman with worsening shortness of breathe found to have an RV heave and a loud S2)

16) A 1-month-old girl is brought to the physician because of a 1-day history of decreased oral intake. Her mother says that the child…

Decreased T-lymphocyte activity

  • Young baby with thrush and a candidal diaper rash concerning for Chronic mucocutaneous candidiasis (impaired cell-mediated (T cell) immunity in response to Candida)
  • Key idea: Even if you could not remember the rare immunodeficiency syndrome being presented, you could guess that patient has decreased T-lymphocyte activity because thrush is classically seen in patients with HIV/AIDS, and those patients have decreased T-lymphocyte activity
  • B-cell immunodeficiency –> Recurrent sinopulmonary infections (loss of IgA mucosal immunity), including both encapsulated bacteria (loss of IgG opsonization) and parasites (loss of IgE)
  • T-cell immunodeficiency –> Recurrent viral and fungal infections

17) A 15-year-old girl is brought to the physician because of a 2-week history of a facial rash and fatigue. She has a 9-day history of…

Renal biopsy

  • Adolescent girl presenting with non-specific systemic symptoms + inflammatory arthritis + malar rash + pleuritis + oral ulcers concerning for lupus who is also found to have blood and protein in her urine concerning for diffuse proliferative glomerulonephritis and should have a kidney biopsy performed to work up that possibility
  • Lupus patient with nephrotic syndrome (lots of urine protein and no blood) –> Membranous nephropathy
  • Lupus patient with nephritic syndrome (urine protein AND blood) –> Diffuse proliferative glomerulonephritis
  • Differential for oral ulcers (on the NBME) includes:
    • Lupus
    • HIV
    • Inflammatory bowel disease (primarily Crohn’s)
    • Behcet’s disease
    • Infectious mononucleosis

18) A previously healthy 6-year-old girl is brought to the emergency department because of severe abdominal pain, nausea, and vomiting…

Staphylococcus aureus

  • Key idea: Rapid-onset food poisoning (<24 hours after exposure) are due to toxin-mediated processes and are primarily caused by Staph aureus (fatty, creamy foods left out in the sun) and Bacillus cereus (reheated rice syndrome)
  • Key idea: These causes of food poisoning both begin quickly AND end quickly and therefore they are managed solely with supportive care

19) A previously healthy 10-year-old girl is brought to the physician because of a rash over the eyelids and fingers for 1 week…

Dermatomyositis

  • Young girl with proximal muscle weakness + heliotrope rash (violaceous eyelid rash) + Gottron papules (scaly rash over dorsal aspect of knuckles) –> Dermatomyositis
  • Key idea: Patients with dermatomyositis can also have a malar rash, so if you see a patient with a malar rash DO NOT IMMEDIATELY JUMP TO LUPUS!
  • Mixed connective tissue disease –> Patient with features of SLE, systemic sclerosis and polymyositive
  • Scleroderma –> Tight skin on fingers/face, esophageal dysmotility, Raynaud’s phenomenon, telangiectasias, pulmonary disease, etc.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563888/
https://www.pinterest.com/pin/640566746977819121/

20) A 2 1/2-year old boy is brought to the physician by his mother because she is concerned about his language development…

Audiometry

  • Young child with normal motor (fine and gross) and social development with slightly delayed language development –> First step in work-up is audiometry to screen for hearing problems –> delayed language acquisition
  • Key idea: By age 2, kids should use at least 200 words and speak in 2-word phrases/sentences
  • Key idea: Hearing problems –> delayed language acquisition should be particularly suspected in a child with a history of recurrent ear infections or bacterial meningitis
  • Note: All patients with bacterial meningitis should undergo audiologic testing preferably before hospital discharge

21) A 3-year-old boy is brought to the physician because of increasing lethargy and jaundice over the past week. At birth, he had jaundice…

Normocytic and normochromic

  • Young boy with a father who needed a splenectomy for unspecified reason with a history of jaundice who presents with scleral icterus and splenomegaly found to have anemia with a normal reticulocyte count and negative Coombs test most concerning for a hemolytic anemia and most specifically for hereditary spherocytosis –> Normocytic anemia (as is the case with most types of hemolytic anemia)
  • Key idea: Hereditary spherocytosis is inherited in an autosomal dominant fashion, with classic laboratory findings being an increased mean corpuscular hemoglobin concentration (MCHC), negative Coombs test and increased osmotic fragility test
  • Key idea: Hereditary spherocytosis often managed with folate + blood transfusions but can be fully treated through splenectomy so patients with this condition often have relatives with a history of splenectomy for unknown reason
  • Key idea: Both hereditary spherocytosis AND autoimmune hemolytic anemia lead to spherocytes on peripheral smear and the main way to differentiate between the conditions is the Coombs test (negative in HS, positive in AIHA)

22) A 16-year-old girl is brought to the physician because she has not had a menstrual period for 4 months. Menarche was at the age of 12 years…

Ovary

  • Adolescent obese girl with signs of hyperandrogenism (hirsutism [hair growth in androgen-sensitive areas], acne) and menstrual irregularity most concerning for PCOS, with the pathology occurring in the ovary (polycystic OVARIAN syndrome due to anovulation in the OVARY)
  • Diagnosis of PCOS requires at least 2 of the 3 following criteria:
    • Irregular menses (anovulation)
    • Polycystic ovaries on ultrasound
    • Clinical (acne, hirsutism) or laboratory (elevated testosterone) signs of hyperandrogenism
  • Key idea: While insulin resistance is often a component of PCOS, it is NOT part of the diagnostic criteria
  • Key idea: Patients with PCOS at increased risk for endometrial hyperplasia/carcinoma because they have high levels of androgens that is readily aromatized to estrogen due to elevated fat levels (aromatization primarily takes place in fat cells)
  • Key idea: Secondary amenorrhea defined as amenorrhea for >3 months among women with previously regular menses OR amenorrhea for >6 months among women with previously irregular menses
  • Key idea: First step in work-up of secondary amenorrhea is a pregnancy test, and if that is negative then next best steps depending on patient’s presentation and your clinical suspicion would be prolactin, testosterone, FSH and TSH, with primary consideration for the following disorders:
    • PCOS –> Heavy girl with signs of hyperandrogenism and/or insulin resistance found to have an elevated LH:FSH ratio
    • Primary ovarian insufficiency –> Signs of menopause before 40 (hot flashes, mood swings, increased FSH) often in setting of autoimmune disease or prior radiation therapy
    • Prolactinoma –> Infertility, galactorrhea, bitemporal hemianopsia
    • Asherman syndrome –> History of D&C with normal hormonal profile but with cyclical painful abdominal pain
    • Hypothyroidism –> Weight gain, bradycardia, cold intolerance, delayed deep tendon reflex relaxation, etc.

23) A 3-year-old boy is brought to the physician because of eye swelling for 1 week. His blood pressure is 120/60 mm Hg. Examination shows…

Minimal change nephrotic syndrome

  • Key idea: Most common cause of nephrotic syndrome (significant proteinuria WITHOUT hematuria) in children is minimal change disease and it often follows a viral illness
  • Focal segmental glomerulonephritis –> Often seen in adults who are African-American, hispanic, HIV-positive or IV drug abusers
  • Hemolytic-uremic syndrome –> Patient with bout of bloody diarrhea followed by Brain FART (Neuro symptoms, Fever, Anemia (hemolytic), Renal problems, Thrombocytopenia)
  • Henoch-Schonlein purpura –> Palpable purpura on buttocks + IgA vasculitis + GI symptoms (increased risk of intussusception) + arthralgias
  • Acute PSGN –> Patient with proteinuria AND hematuria occurring weeks after a Group A Strep skin or pharyngeal infection

24) A 5-month-old girl is brought to the physician because of daily episodes of vomiting after feedings. Her mother reports that the episodes began shortly…

Intestinal malrotation

  • Young girl with intermittent bilious vomiting with an upper GI series with oral contrast showing lots of contrast in the stomach and an unusual amount of bowel loops on the right side most consistent with intestinal malrotation
  • Key idea: Common causes of bilious vomiting in a newborn would include intestinal malrotation, duodenal atresia or etiologies of failure to pass meconium (meconium ileus, Hirschsprung disease), but the fact that the patient was normal in the first week of life means duodenal atresia and etiologies of failure to pass meconium are HIGHLY UNLIKELY
  • Imaging findings of malrotation: https://radiopaedia.org/articles/intestinal-malrotation?lang=gb
  • Pyloric stenosis –> Non-bilious projectile vomiting in a 2-6 week old child +/- palpable olive-shaped mass in the epigastric region

25) A 3-year-old boy is brought to the emergency department because of a 2-day history of watery diarrhea and vomiting. During this period…

Inadequate caloric intake

  • Young boy with acute diarrhea and vomiting complicated by poor oral intake found to have metabolic acidosis (likely due to diarrhea) and hypoglycemia most likely due to decreased caloric intake
  • Adrenal insufficiency (primary) –> History of autoimmune disease, hyponatremia, hypoglycemia, hyperkalemia, metabolic acidosis, hyperpigmented gums/skin
  • Insulin deficiency –> Type 1 diabetes –> HYPERglycemia
  • Fructose 1-phosphate aldolase deficiency –> Consumption of fructose (juice, honey, etc.) –> Hypoglycemia, vomiting, jaundice, cirrhosis
  • Note: Aspartame (artificial sweetener in sugar-free soda) known to worsen phenylketonuria (light complexion, eczema, musty body odor, seizures, intellectual disability)

26) A previously healthy 17-year-old girl comes to the physician for a follow-up examination after a PPD test produced 17 mm…

Volunteering at a skilled nursing facility

  • Key idea: Common risk factors for tuberculosis include living/visiting crowded living spaces (prisons, homeless shelter, nursing homes), traveling to countries in which TB is endemic (NOT IRELAND), IVDU, etc.
  • Key idea: PPD induration (NOT erythema) required for positivity depends upon patient risk factors with >5 mm being positive in patients with significant immunosuppression (HIV, organ transplant, immunosuppressant meds), recent contact with patient with active TB or patients with CXR findings consistent with TB // >10 mm being positive for patients from Tb endemic countries, IVDU, residents of high-risk settings (prisons, nursing homes, homeless shelters, etc.), children < 4 years old and patients working in mycobacterial labs // >15 mm in all patients
  • Note: 3 treatment options for latent tuberculosis include (1) Isoniazid and rifapentine +/- pyridoxine (2) Isoniazid +/- pyridoxine (3) Rifampin

27) A 4-year-old African American girl has pallor and progressive malaise 6 weeks after being diagnosed with severe hepatitis A…

Anemia, aplastic

  • Young girl with recent infection who presents with clinical and/or laboratory findings of leukopenia (low WBCs), anemia (low RBCs) and thrombocytopenia (low platelets) consistent with aplastic anemia
  • Key idea: Aplastic anemia is the only one of the answer choices listed that would lead to low levels of all three blood cell lines

28) A previously healthy 14-month-old girl is brought to the physician by her mother because of a 2-month history of the left eye wandering…

Retinoblastoma

  • Key idea: Normally eyes should have a Red reflex when light is shown into them due to light reflecting off the retina, so if there is no red reflex and the eye appears white, that means that there is a retinoblastoma or opacity of the lens (cataracts)
  • Key idea: Retinoblastoma tends to be unilateral, whereas cataracts tends to be bilateral and can be associated with disorders of lactose metabolism and congenital Rubella, among other disorders

29) A previously healthy 8-year-old boy is brought to the emergency department because of fever, abdominal pain, and bloody…

Entamoeba histolytica

  • Young immigrant boy presenting with fever, GI pain and bloody diarrhea found to have RUQ tenderness w/ hepatomegaly and colonic flask-shaped ulcers (VERY SPECIFIC FINDING!) most consistent with Entamoeba histolytica infection
  • Key idea: While in reality ~90% of patients with this infection are asymptomatic, on the NBME exam the patient will classically have signs related to colitis (GI pain, bloody stool, etc.) and liver abscess (RUQ pain, fevers, “anchovy paste”-filled abscess)
  • Key idea: Patients with colitis can be diagnosed via stool ova and parasites testing, whereas patients with an abscess can be diagnosed via Entamoeba serology
  • Key idea: Treatment involves Metronidazole + Intraluminal paromomycin (for RUQ liver abscess)
  • Giardia –> Patient who went camping and now has fatty stools
  • Salmonella and Shigella would also have bloody diarrhea, but wouldn’t involve the liver
https://www.cmaj.ca/content/182/16/1758

30) A 10-day-old male newborn is brought to the emergency department because of poor feeding and drowsiness for the past day…

Na+: Decreased // K+: Increased // Glucose: Decreased

  • Newborn with GI symptoms (vomiting, poor feeding) found to be hypotensive with skin/mucosal hyperpigmentation concerning for primary adrenal insufficiency
  • Key idea: Primary adrenal insufficiency means that the entire adrenal gland is dysfunctional such that patients will have decreased levels of cortisol, aldosterone and androgens
  • Low cortisol (glucocorticoids) –> Hypoglycemia (decreased gluconeogenesis, decreased lipolysis) and Hypotension (decreased sensitivity of alpha-1 receptors to epinephrine)
  • Low aldosterone (mineralocorticoids) –> NO reabsorption of Na+ in exchange for secretion of K+ and H+ in collecting duct –> Salt wasting (hyponatremia) along with retention of potassium (hyperkalemia) and protons (metabolic acidosis)
  • Low cortisol –> Decreased negative feedback on anterior pituitary –> Increased ACTH production which also leads to increased melanocyte stimulating hormone production because ACTH and MSH are both derived from POMC –> hyperpigmentation
  • Key idea: Hyperkalemia and skin hyperpigmentation are the two unique features present in primary adrenal insufficiency but absent in secondary adrenal insufficiency
  • In-depth video about the HPA axis (including adrenal insufficiency) can be found here:
    • https://www.youtube.com/watch?v=8VF719Jp34M&t=1470s

31) A 1-month-old girl is brought to the emergency department because of increasing irritability and difficulty breathing over the past 6 hours…

Supraventricular tachycardia

  • Key idea: We can see that there is only slightly more than 1 big box between each QRS complex, telling us that the patient’s heart rate is only slightly less than 300 beats/min (1 big box = 0.2 seconds); since sinus tachycardia maxes out at approximately 220 – age, we know that this patient does not simply have sinus tachycardia
  • Key idea: Children under 5-6 should NOT receive over the counter cough/cold medication because of the significant side effects, including tachycardia (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461939/)
  • We can see p-waves in leads I and aVL, so that rules out atrial fibrillation and VTach

32) A 2-year-old child with sickle cell hemoglobinopathy has a 2-week history of paroxysmal cough followed by vomiting…

Diphtheria-tetanus-acellular pertussis

  • Young child with bouts of coughing with post-tussive vomiting and significant lymphocytosis most consistent with B. pertussis infection
  • Key idea: B. pertussis is unique in that it is a bacterial infection but rather than a neutrophilic-predominant leukocytosis it leads to a lymphocyte-predominant leukocytosis due to pertussis toxin (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761200/)
  • Key idea: In addition to an inspiratory whoop, B. pertussis is known to lead to exceedingly forceful coughing which can lead to:
    • Post-tussive vomiting
    • Facial petechiae
    • Subconjunctival hemorrhage
  • Key idea: B. pertussis is treated with a macrolide (classically azithromycin)

33) A 7-year-old girl is brought for a follow-up examination 2 days after completing a 10-day course of antibiotics for her second episode…

HIV infection

  • Young girl with a mother with a recent infection with non-tuberculous mycobacteria (M. avium-complex) who has had recurrent infections, lymphadenopathy and bilateral serous otitis media concerning for HIV infection
  • Key idea: HIV’s clinical expression in kids is highly variable, with some showing signs early in life (recurrent infections, failure to thrive) and others remaining asymptomatic for many years (https://www.ncbi.nlm.nih.gov/books/NBK304129/)
  • Key idea: Serous otitis media (fluid behind tympanic membrane WITHOUT inflammatory findings) is the most common middle ear pathology in patients with HIV
  • Chronic granulomatous disease –> Boy (X-linked) with recurrent infections with catalase positive organisms (BELCH SPANS: Burkholderia, E coli, Listeria, Candida, H pylori, Staph aureus, Pseudomonas, Aspergillus, Nocardia, Serratia)
  • DiGeorge –> CATCH-22 –> Cardiac defects, Abnormal facies, Thymic aplasia, Cleft lip/palate, Hypocalcemia
  • X-linked agammaglobulinemia –> Boy (X-linked) with recurrent sinopulmonary bacterial and parasitic infections with scanty lymph nodes and tonsillar tissue (due to lack of germinal centers)

34) A previously healthy 7-year-old girl is brought to the physician by her father because of a 4-month history of bright red blood in her stool…

Colonoscopy

  • Young girl with hyperpigmented macules on the lips who presents with a chronic history of intermittent bloody stools most consistent with Peutz-Jeghers syndrome c/b hamartomatous polyps versus colon cancer –> Work-up with colonoscopy to determine which is present
  • Key idea: Patients with Peutz-Jeghers syndrome have increased risk of breast and GI cancers (colorectal, stomach, etc.)
  • Air contrast enema –> Intussusception –> Toddler with intermittent episodes of abdominal pain that improves with bringing knees to chest +/- bloody stools
  • Meckel scan –> Most common cause of bloody stools in a child and can predispose to intussusception (by acting as a lead point)

35) A 3-month-old girl is brought to the emergency department by her parents because of a 1-day history of fever and poor feeding…

Administration of a 0.9% saline

  • Young infant brought to the ED with fever, vomiting, poor feeding, altered mental status and petechial/purpuric lesions (non-blanching erythematous lesions) found to have labs compatible with an uncompensated anion gap metabolic acidosis most consistent with sepsis c/b lactic acidosis –> Infants with non-specific presentation should receive thorough evaluation (urine culture, blood culture, usually lumbar puncture) and should be started on empiric antimicrobial therapy + Fluids
  • Anion gap = [Na+] – ([HCO3-] + [Cl-]) = 136 – (17 + 100) = 19 > 12 –> Anion gap metabolic acidosis
  • Winter’s formula: Predicted CO2 = (1.5 * HCO3) + 8 +/- 2 = (1.5 * 17) + 8 +/- 2 = 25.5 + 8 +/- 2 = (31.5 to 35.5) < 38 –> Uncompensated AG metabolic acidosis
  • PAO2 = 150 – (PaCO2 / 0.8) = 150 – (38 / 0.8) = 150 – 47.5 = 102.5
  • A-a gradient = 102.5 – 94 = 8.5 –> Normal A-a gradient ~5-10 –> No sign of hypoventilation or V/Q mismatch –> No need for intubation
  • Patient’s presentation not severe enough to warrant pressors and acidosis not severe enough to warrant bicarbonate

36) A 15-month-old boy is brought to the physician for an initial exam. According to his mother and previous medical records…

Recommend a diet diary with calorie counts

  • Young infant who over the last 3 months has had their weight drop from the 25th percentile –> 10th percentile and should have the patient’s diet and activity levels evaluated
  • Key idea; Failure to thrive is repeated weight measurements below the 5th percentile or a drop in weight that crosses two major percentiles, so technically this patient does not qualify as failure to thrive (no need for admission or broad work-up)
  • https://www.aafp.org/afp/2011/0401/p829.html

37) A 3-year-old girl is brought to the emergency department because of a 5-day history of increased thirst and urination…

Diabetes insipidus

  • Young girl with recent head injury presenting with polydipsia and polyuria found to have low volume status with hypernatremia and dilute urine most consistent with diabetes insipidus (probably central)
  • Key idea: Diabetes insipidus can be due to decreased ADH production by the posterior pituitary (often in setting of brain tumor, head trauma, etc.) or due to decreased responsiveness of the kidney to ADH (often due to lithium or hypercalcemia), and to differentiate between these you can give patient vasopressin and evaluate whether there is >50% increase in urine osmolality, which would point to central DI (as is likely the case here given the history of head injury)
  • Psychogenic polydipsia and SIADH would lead to HYPOnatremia

38) A 10-year-old girl is brought to the physician because of swelling of the eyelids and feet for 3 days. Over the past week, she has had decreased…

Volume overload

  • Young girl with history of possible strep infection 2 weeks ago presenting with diffuse edema and urine labs demonstrating protein, blood and RBC casts consistent with post-strep glomerulonephritis
  • Key idea: Renal disease leads to hypertension due to volume overload, which can be remembered by thinking of the AEIOU mnemonic for indications for dialysis because they describe the consequences of poor renal function (Acidosis, Electrolyte abnormalities, Intoxication, Overload (volume), Uremia)
  • Key idea: Glomerulonephritis will classically have protein AND blood, with the presence of RBC casts or dysmorphic RBCs being highly specific for glomerulonephritis
  • Catecholamine excess –> Pheochromocytoma
  • Mineralocorticoid excess –> Hyperaldosteronism, renal artery stenosis (increased RAAS activity)

39) A 16-year-old girl is brought to the emergency department by friends after she passed out at a party. She has a history of substance…

Endotracheal intubation

  • Key idea: Patient has rapid, shallow respirations with borderline hypoxia and is exceedingly altered (which elicits concern about the patient’s ability to protect her airway) and therefore should be intubated
  • Key idea: For all patients brought to the emergency department, the first consideration is the ABCs (Airway, Breathing, Circulation) as those need to be urgently/immediately addressed before pursuing any other diagnostics/therapy

40) A 3977-g (8-lb 12-oz) male newborn is delivered at term to a 30-year-old primigravid woman. Apgar scores are 8 and 9 at 1 and 5 minutes…

HBIG only if maternal HBsAg is positive and HBV at 2 and 6 months of age

  • Key idea: If a mother has hepatitis B, the risk of vertical transmission is 90% without prophylaxis and the majority of vertical transmissions occur during the passage of the fetus through the birth canal –> Therefore, infants born to mothers with Hepatitis B should receive Hep B vaccine and Hep B immunoglobulin within 12 hours of delivery (decreases risk of vertical transmission to <2%)
  • Key idea: Vaccinations administered at 2 and 6 months at age can be remembered with the mnemonic B DR. HIP (hepatitis B, DTap, Rotavirus, H influenzae, Inactivated polio, Pneumococcal) –> Note that NONE of these are live attenuated vaccines

41) A 2-year-old boy is brought to the emergency department 30 minutes after he fell approximately 8 feet from a backyard porch…

Urine blood

  • Young boy with trauma to the back and unilateral flank tenderness who should be worked up for renal injury which is done primarily by looking for hematuria
  • Key idea: Patient with trauma to the back should have evaluation for renal injury both through clinical evaluation (flank tenderness, flank ecchymosis) and lab testing (hematuria) –> If any of these signs are present then patient should receive imaging (often CT scan)
  • Note: Abnormalities in all of the other labs listed would not be immediate (within 30 minutes of fall) and would take more time to develop (if they develop at all)

42) A 1-year-old boy is brought to the physician for a follow-up examination. He completed a 1-week course of intravenous ceftriaxone followed…

Monthly infusion of immune globulin

  • Young boy with history of recurrent sinopulmonary infections and a recent infection with an encapsulated bacteria found on lab evaluation to have diffusely low immunoglobulin levels most concerning for Bruton’s agammaglobulinemia –> Treat by replacing immunoglobulins in patient
  • Key idea: Patients with B cell disorders tend to have the following types of infections:
    • Sinopulmonary (otitis media, pneumonia, etc.): Loss of mucosal IgA
    • Encapsulated bacteria (Strep pneumo, H influenzae, etc.): Loss of IgG needed for opsonization
    • Parasitic infections (mainly Giardia): Loss of IgE
  • Key idea: Disease is X-linked so it will exclusively be seen in boys
  • Key idea: These patients have absent B cells –> Poor germinal center development –> Scanty lymph nodes and tonsillar tissue (seen in Bruton’s agammaglobulinemia and Severe combined immunodeficiency)

43) A previously healthy 9-year-old boy is brought to the physician because of moderate groin pain since he participated in a hockey game…

Torsion of the appendix testes

  • Key idea: Appendix testis is a remnant of the Mullerian duct that is present in about 90% of XY patients and just like the regular testes, the appendix testis can become twisted
  • Key idea: A virtually pathognomonic sign of torsion of the appendix testis is a palpable “blue dot” sign (“3 mm area of bluish discoloration overlays the point of maximal tenderness”)
  • Key idea: Just like testicular torsion, torsion of the appendix testis tends to occur in kids-adolescents
  • Testicular pain relieved with elevation –> Positive Prehn’s sign –> Epididymitis (also would typically have fever)
  • Testicular hematoma –> Would need to be preceded by trauma to the groin
https://www.saintlukeskc.org/health-library/testicular-appendage-torsion

44) A 1-day-old newborn is jittery and irritable. He was born at term to a 25-year-old primigravid woman who received irregular prenatal care…

Hypoglycemia

  • Macrosomic 1-day old newborn born to a woman with irregular prenatal care who presents with irritability and jitteriness most concerning for hypoglycemia in setting of a mother with gestational diabetes
  • Key idea: Macrosomia is almost always seen in the setting of gestational diabetes, so that was an important clue in this vignette
  • Key idea: Glucose can cross the placenta but insulin CANNOT, and therefore when pregnant woman have gestational diabetes the baby will develop islet cell hypertrophy in response to the high levels of glucose they are receiving in utero –> Therefore, newborns of mothers with gestational diabetes are at risk for hypoglycemia because their pancreas will continue to produce large amounts of insulin but they are NO LONGER receiving high levels of glucose from the mother, leading to excessive insulin pushing them to be hypoglycemic
  • Note: Newborns of women with gestational diabetes are also at risk for hypocalcemia and hypomagnesemia which can lead to irritability, tremors, twitching, etc. but those tend to present at 48-96 hours of birth (in contrast to hypoglycemia which tends to present within ~24 hours)
  • Note: Gestational diabetes also puts the newborn at risk of respiratory distress syndrome because insulin inhibits surfactant production

45) An asymptomatic 15-year-old boy is brought to the physician for a well-child examination. He is concerned because he is the shortest…

Constitutional growth delay

  • Adolescent boy who has always been short and has signs of pubertal delay (Tanner Stage 2 although should be Tanner Stage 4) with an otherwise benign exam most consistent with constitutional growth delay
  • Key idea: If an adolescent presents with persistent short stature + pubertal delay + delayed bone growth, they have constitutional growth delay
  • Key idea: Constitutional growth delay typically characterized by a child being small early in life who will eventually catch up to other kids once they go through puberty at 16-17 or so
  • Insufficient caloric intake –> Weight would be decreased
  • Adrenal insufficiency –> Hypotension, hypoglycemia, GI symptoms, fatigue, electrolyte abnormalities, etc.
This image has an empty alt attribute; its file name is Screen-Shot-2020-12-23-at-5.49.25-PM.png
First AID for the USMLE Step 1 2020, Thirtieth Edition

46) A 5-year-old boy has had pain in the groin and thigh for 2 weeks; 1 week ago, he began limping. There is no history…

Legg-Calve-Perthes disease

  • Young boy with groin pain with no other clinical findings and a normal x-ray, but with decreased hip uptake on bone scan most consistent with Legg-Calve-Perthes disease (idiopathic avascular necrosis of the hip in a toddler)
  • Key idea: Avascular necrosis of the hip will lead to normal imaging findings early on, with advanced disease leading to a “crescent sign” on MRI –> Therefore, if you are clinically suspecting avascular necrosis but have negative imaging the next step is a bone scan which is helpful in detecting early disease (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656489/)
  • Key idea: Hip pathology (hip osteoarthritis, avascular necrosis of the hip, etc.) will lead to GROIN pain
  • Causes of avascular necrosis of the hip can be remembered with mnemonic CAST Bent-LEGS:
    • Corticosteroids
    • Alcoholism
    • Sickle cell disease (RBC clumping –> Vascular occlusion)
    • Trauma
    • “Bends” (rising too quickly from deep depth)
    • LEgg-Calve Perthes (idiopathic in a child ~5 years old) and Lupus
    • Gaucher disease (Ashkenazi jew with presentation similar to Sickle cell disease)
    • Slipped capital femoral epiphysis (obese adolescent)

47) A 6-year-old girl is brought to the physician by her father because of a 36-hour history of fever and a 1-day history of pain and swelling…

Penicillin

  • A young girl with a recent history of sore throat that went untreated (concerning for GAS pharyngitis given the increased ASO titer level) who now presents with arthritis, fever, and a murmur concerning for mitral regurgitation most consistent with Rheumatic fever
  • Key idea: Post-strep glomerulonephritis can be seen after a GAS throat OR SKIN infection and penicillin does NOT decrease the risk of PSGN // In contrast, Rheumatic fever is ONLY seen after a GAS throat infection and penicillin DOES decrease the risk of rheumatic fever
  • Key idea: Symptoms of rheumatic fever can be remembered by JONES criteria
    • Joints (polyarthritis)
    • Think of O as being shaped like Heart –> Pancarditis (peri-, myo-, endo-)
    • Nodules (subcutaneous)
    • Erythema marginatum
    • Sydenham chorea (purposeless movements)
  • Note: Making a fist –> Increases afterload –> More difficult forward flow of blood through heart –> Forward flowing murmur (AS, MS, HOCM, etc.) become quieter (less blood rushing by messed up valves) and Backward flowing murmur (MR, AR, VSD, etc.) become louder (more blood rushing by messed up valves)

48) A 14-year-old boy is brought to the physician because his parents are concerned that he has had several episodes of tripping and incoordination…

Charcot-Marie-Tooth disease

  • Key idea: Charcot-Marie-Tooth is an autosomal dominant disorder (family history) that presents with foot drop, foot deformities and lower extremity weakness and sensory defects
  • Duchenne muscular dystrophy –> Male toddler with weakness, calf pseudohypertrophy, Gowers sign, etc.

49) A 1-year-old girl is brought to the emergency department because of a 3-day history of low-grade fever and watery diarrhea…

Lactic acidosis

  • Infant with a recent exposure to someone with a URI and diarrhea who presents with acute watery diarrhea containing mucus found to be volume depleted with labs pointing to an anion gap metabolic acidosis (134 – 105 – 8 = 21 > 12) most consistent with lactic acidosis in the setting of hypovolemia
  • Causes of an anion-gap metabolic acidosis can be remembered with the mnemonic MUDPILERS:
    • Methanol poisoning (blindness and eye symptoms)
    • Uremia (kidney disease –> pericarditis, altered mental status, asterixis, etc.)
    • DKA (ketonuria, glucose ~300-500, GI symptoms, polyuria, polydipsia)
    • Propylene glycol
    • Isoniazid or Iron poisoning
    • Lactic acidosis (most common –> sepsis, hypovolemia, seizures, etc.)
    • Ethylene glycol (kidney stones, acute tubular necrosis)
    • Rhabdomyolysis (dark urine, excessive exercise, positive urine blood but negative RBCs on microscopy)
    • Salicylates (early respiratory alkalosis followed by late anion gap metabolic acidosis)
  • Renal tubular acidosis –> NON-AG metabolic acidosis
  • IBD and Celiac disease would lead to chronic symptoms and would often present in somebody a little older

50) A 3-day-old girl with Down syndrome has not had a bowel movement since birth. She feeds poorly but has not vomited…

Absence of ganglion cells in the bowel wall

  • Major causes of “Failure to pass meconium”:
    • Hirschsprung disease: Due to failed migration of ganglion cells to distal portion of GI tract, associated with down syndrome, obstruction at level of rectosigmoid leading to a positive squirt sign (finger in anus relieves the obstruction and leads to forecful expulsion of backed up meconium/stool)
    • Meconium ileus: Due to thick inspissated stool, associated with cystic fibrosis, obstruction at level of terminal ileum, negative squirt sign
    • Imperforate anus: Due to lack of an anal opening, abnormal physical exam, sometimes associated with VACTERL syndrome (combination of mesodermal defects affecting muscle, bone, larynx, etc.)

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1) A 3-year-old girl is brought to the physician by her mother, who is concerned that her daughter might have been abused…

Reassure the mother that this is normal behavior

  • Normal sexual behavior in toddlers:
    • Exploring one’s own genitals or other’s genitals
    • Masturbatory movements
    • Undressing self or others
  • Abnormal sexual behavior in toddlers (concerning for abuse):
    • Repeated insertion of objects into vagina/anus
    • Age-inappropriate sexual knowledge
    • Sex play involving genital contact
    • Use of coercive behavior in sex play
  • Key idea: Being hesitant about leaving mother, intermittent nighttime awakening and not wanting to share toys are normal behaviors for a toddler, especially in setting of no behavior problems

2) A 6-year-old boy is brought to the emergency department 10 minutes after a firecracker accident; he has pain…

Loss of corneal epithelium

  • Key idea: Patients with corneal abrasion often present with pain, tearing and foreign body sensation and next best step would likely be visualization after Flourescein staining
  • Obstruction of lacrimal duct –> Nasolacrimal duct obstruction –> Unilateral, painless tearing
  • Retinal detachment –> Patient with severe myopia and/or trauma presenting with floaters and lights followed by painless loss of vision “like a curtain being dropped down”
  • Increased intra-ocular pressure –> Glaucoma –> Painless loss of peripheral vision

3) An 8-year-old boy is brought to the physician because of a 4-day history of pallor. He has not had cough, rash…

Meckel scan

  • Young boy with bloody stools c/b anemia with an otherwise normal exam most concerning for a Meckel diverticulum (most common cause of GI bleed in a child) –> Work-up with technetium 99m pertechnetate scan, which is taken up by gastric mucosa and therefore should only light up the stomach in somebody without a Meckel diverticulum
  • Key idea: Meckel diverticulum can be remembered by Rule of 2’s: 2X more common in boys, 2 inches long, 2 feet from ileocecal valve, 2% of population, contains 2 types of ectopic tissue (pancreatic and gastric)
  • Anoscopy –> Hemorrhoids –> More commonly seen in adults and rarely leads to sufficient bleeding to produce anemia

4) An otherwise healthy 6-year-old boy is brought to the physician because of the growth of pubic hair over the past 2 years…

Adrenal cortex

  • Key idea: 2 main sources of testosterone are the testes and the adrenal cortex (zona fasciculata) and given that this patient has age-appropriate testicular size we are more concerned for androgens coming from the adrenal cortex
  • Key idea: Precocious puberty defined by secondary sexual development in girls younger than 8 years old and in boys younger than 9 years old
  • Key idea: First step in setting of suspected precocious puberty is assessment of bone age of child followed by an LH level, with advanced bone age + high LH –> Central precocious puberty (increased LH/FSH stimulates testicular production of androgens) and advanced bone age + low LH –> Peripheral precocious puberty (increased androgen production by adrenals –> Decreased LH/FSH by negative feedback –> Normal sized testes)

5) A 20-year-old woman, gravida 1, para 0, at 36 weeks’ gestation delivers a stillborn infant. She had no prenatal care, and the…

Abnormality in Type 1 collagen

  • Key idea: Blue sclerae is virtually pathognomonic for osteogenesis imperfecta
  • Features of osteogenesis imperfecta
    • Frequent fractures
    • Blue sclerae (due to visualization of underlying choroidal veins in eye)
    • Conductive hearing loss (due to abnormal bone formation in middle ear)
    • Dentigenesis imperfecta
    • Short-normal stature
    • Joint hypermobility
  • Fetal alcohol syndrome –> Behavioral problems, small head and body, facial abnormalities (thin upper lip, smooth philtrum, etc.)
  • Phenytoin –> Fetal hydantoin syndrome (facial problems, limb problems, etc.)
  • Cocaine use –> Placental abruption, small fetus/baby

6) A 10-year-old boy with sickle cell disease is brought to the physician because of a 2-day history of increasing fatigue and shortness…

Cardiac output

  • Young boy with sickle cell disease who presents with persistent infection + hypotension + fever and anemia, most concerning for dual diagnoses of sepsis and anemia –> Each can individually lead to increased cardiac output (as supported by the patient’s active precordium)
  • Key idea: Anemia = Decreased RBC mass –> Decreased O2 carrying capacity of blood –> Compensatory increase in cardiac output to enable adequate oxygen delivery to tissues (chronic anemia can lead to high-output heart failure)
  • Key idea: Sepsis –> Bacterial endotoxins lead to arteriolar vasodilation –> Decreased systemic vascular resistance (afterload) –> Heart is pumping against less resistance –> Increased cardiac output
  • Key idea: Distributive shock (septic, anaphylactic or neurogenic) is the only category of shock that leads to decreased SVR and increased CO
  • Increased pulmonary vascular resistance –> Pulmonary hypertension (genetic, cor pulmonale, secondary to left-sided heart failure, etc.)

7) A 5-year-old boy is brought to the physician for a well-child examination. He is active and has been healthy except…

Thalassemia minor

  • Young boy of Southeast Asian descent and unremarkable history found to have microcytic anemia with decreased red cell distribution width and target cells on smear most concerning for thalassemia minor
  • Key idea: Red cell distribution width basically looks at the range of RBC sizes and will be decreased in thalassemia (where all the RBCs are small) and will be increased in iron deficiency anemia (where some RBCs get enough iron and are normal sized and some don’t get enough and are small)
  • Microcytic anemia differential:
    • Iron deficiency anemia
    • Thalassemia
    • Lead poisoning
    • Sideroblastic anemia (genetic, alcohol abuse, etc.)
  • Patients with African descent with alpha thalassemia minor tend to have trans variant (one alpha gene missing from each chromosome 16), whereas patients with Asian descent tend to have cis variant (both alpha genes missing from same chromosome 16)
  • Note: I remember that there are two genes for beta-globin and therefore it must be on chromosome 11 (1+1), whereas there are four genes for alpha-globin and therefore it must be on chromosome 16 (2^4)
  • Bone marrow suppression –> Low RBCs, WBCs and platelets

8) A 2-week-old female newborn is brought to the physician because of bruising on her arms and legs for 2 days. She was born…

Hemangioma

  • Infant with a large hemangioma of the thigh who presents with purpura and petechiae concerning for thrombocytopenia which is confirmed by a low platelet count, most consistent with Kasabach-Merritt syndrome (large or rapidly growing vascular lesion –> platelet trapping (low platelet count) and consumption of fibrinogen/clotting factors (consumptive coagulopathy)
  • Cystic hygroma –> Swelling/mass on the back of the neck due to abnormal lymphatic development; often associated with Turner syndrome
  • Neurofibromatosis type 1 –> Neurofibromas, Lisch nodules (pigmented hamartomas in eye), optic glioma, cafe-au-lait spots, pheochromocytoma, seizures/brain tumors

9) A previously healthy 1-month-old girl is brought to the emergency department because of a 3-day history of cough and difficulty…

Pertussis

  • Key idea: B. pertussis classically leads to long/severe bouts of coughing followed by an inspiratory “whoop”
  • Key idea: In addition to an inspiratory whoop, B. pertussis is known to lead to exceedingly forceful coughing which can lead to:
    • Post-tussive vomiting
    • Facial petechiae
    • Subconjunctival hemorrhage
  • Key idea: B. pertussis is unique in that it is a bacterial infection but rather than a neutrophilic-predominant leukocytosis it leads to a lymphocyte-predominant leukocytosis due to pertussis toxin (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761200/)
  • Key idea: B. pertussis is treated with a macrolide (classically azithromycin)
  • Acute bronchiolitis –> Wheezing
  • Viral laryngotracheobronchitis (Croup) –> Stridor
  • Foreign body aspiration –> Sudden bout of coughing followed by asymmetric wheezing with asymmetric lung expansion on chest x-ray
  • Chlamydial pneumonia –> ~6-8 weeks post-birth with Staccato cough + Eosinophilia

10) A 2-year-old girl is brought to the emergency department 30 minutes after a syncopal episode. At the time of the episode…

Breath holding

  • Key idea: Breath holding spells can be seen in children 6 months to 2 years of age predominantly, with the two major types being:
    • Cyanotic breath-holding spells –> Crying/trauma associated with breath-holding, cyanosis and loss of consciousness
    • Pallid breath-holding spells –> Crying/trauma associated with breath-holding, pallor and loss of consciousness
  • Key idea: Atonic seizure leads to loss of muscle tone with NO loss of consciousness or unresponsiveness
  • Key idea: Because the patient was normal immediately after event with no post-ictal state, that virtually rules out complex partial seizures
  • Low cardiac output –> Syncope –> Vasovagal, hypovolemia, heart defect, PE, etc.

11) A previously healthy 6-month-old boy is admitted to the hospital because of a 1-day history of fever, lethargy and vomiting…

Increased secretion of ADH (vasopressin)

  • Infant with signs of meningitis (fever, nuchal rigidity, etc.) also found to have hyponatremia most likely due to SIADH caused by CNS pathology
  • Common causes of SIADH:
    • Medications (antidepressants, anticonvulsants, cyclophosphamide, etc.)
    • Paraneoplastic phenomenon (small cell lung cancer, renal cell carcinoma)
    • CNS pathology (tumor, brain trauma, etc.)
    • Lung pathology (pneumonia, COPD exacerbation, etc.)
  • Note: Another pathway from meningitis to hyponatremia that would not present as acutely could be Meningococcal meningitis –> Waterhouse-Friderichsen syndrome –> Adrenal insufficiency –> Hyponatremia

12) A 10-month-old girl is brought to the physician because of a 5-day history of a rash over the cheeks and diaper area that…

Atopic dermatitis

  • Key idea: While we typically think of atopic dermatitis occurring in flexural regions of the extremities (cubital fossa, popliteal fossa), atopic dermatitis is a heterogenous disease especially in infants where it is commonly seen on the face and in the inguinal area (moist, irritated area)
  • Candidiasis –> Diaper rash with satellite regions
https://www.pinebeltderm.com/blog/the-many-forms-of-atopic-dermatitis-a-treatment-plan-for-it

13) A 1-day-old, 1400-g (3-lb 2-oz) newborn has tachypnea, expiratory grunting, flaring of the alae nasi, and peripheral edema…

Respiratory and metabolic acidosis

  • Key idea: Patient with an acidosis based on ABG found to have a low HCO3 and an increased PCO2 most consistent with a mixed respiratory and metabolic acidosis
  • Although in this case the patient’s metabolic acidosis in this case clearly does not have respiratory compensation, it can be formally evaluated with the Winter’s formula which uses the patient’s HCO3- (degree of metabolic acidosis) to estimate what normal respiratory compensation should be:
    • Compensated PCO2 = (HCO3 x 1.5) + 8 +/-2 = (14 * 1.5) + 8 +/- 2 = [27, 31] –> In this case the PCO2 is higher than upper limit of the range (50 > 31), and therefore we know there is a concomitant respiratory acidosis
  • Just for fun: Anion gap = [Na+] – (HCO3 + Cl) = 138 – (14 + 100) = 24 > 12 –> Anion-gap metabolic acidosis
  • Good article for approach to acid-base abnormalities: https://www.nejm.org/doi/pdf/10.1056/NEJMra1003327

14) A 3-year-old boy is brought to the emergency department because of a 1-day history of increasingly severe abdominal pain…

CT scan of the abdomen

  • Young patient with blunt abdominal trauma found to have severe epigastric discomfort + epigastric mass most consistent with a duodenal hematoma –> Work-up with abdominal CT
  • Key idea: Amylase and lipase are NOT specific to pancreatitis and can be seen generally in setting of blunt abdominal trauma
  • Air enema –> Intussusception –> Toddler with episodic abdominal pain +/- bloody stools with decreased pain when drawing the knees to the chest
  • Barium enema –> Hirschsprung’s disease vs Meconium ileus
  • Key idea: Abdominal x-ray useful in setting of small bowel obstruction but not in setting of duodenal hematoma
https://journals.sagepub.com/doi/pdf/10.1177/2058460119836256

15) A 9-year-old boy with chronic renal failure is brought to the physician for a follow-up examination 2 days after he began enalapril…

Suppression of aldosterone

  • Key idea: Enalapril –> ACE inhibitor –> Decreased Angiotensin II –> Decreased aldosterone –> Decreased Na+ reabsorption in exchange for K+/ H+ secretion into the collecting duct –> Hyperkalemia and Metabolic acidosis
  • In a patient with renal artery stenosis, ACE inhibitors can lead to decreased glomerular perfusion (which would be reflected by increased creatinine/BUN) –> INCREASED RAAS activity –> Increased aldosterone –> Increased Na+ reabsorption in exchange for K+/H+ secretion –> Hypokalemia and metabolic alkalosis

16) A previously healthy 8-year-old girl is brought to the emergency department because of fever, rash, and lethargy for 4 hours…

Complement system immunodeficiency

  • Young girl with a family history of severe meningococcemia who presents with signs of meningococcemia (meningitis (fever, nuchal rigidity) + Purpuric skin lesions) most concerning for a complement deficiency which predisposed to recurrent Neisseria infections (gonorrhea, meningococcus)
  • AIDS –> Recurrent viral/fungal/mycobacterial infections + Failure to thrive
  • Congenital humoral system immunodeficiency –> B cell deficiency –> Recurrent sinopulmonary and mucosal infections (due to loss of IgA) primarily due to encapsulated bacteria (due to loss of IgA) and parasites such as Giardia (due to loss of IgE)

17) A 15-year-old girl is brought to the physician because of a 3-day history of severe pain and swelling in her right sternoclavicular joint…

Culture of the aspirate fluid

  • Adolescent girl with fever + swelling of the sternoclavicular joint with aspiration showing thick purulent fluid with gram-negative diplococci on gram stain most consistent with gonococcal arthritis –> Culture of N. gonorrhoeae is of tremendous importance both for definite diagnosis and for determination of drug susceptibility although most can be treated with Ceftriaxone + Azithromycin/Doxycycline
  • Key idea: Gonorrhea is the most common cause of septic arthritis in adolescents/young adults and can lead to a sexually-transmitted cervicitis, urethritis or pharyngitis that can then disseminate hematogenously
  • Key idea: Disseminated gonococcal infection classically leads to Purulent monoarthritis OR Triad of tenosynovitis + pustular dermatitis + migratory polyarthritis

18) A 5000-g (11-lb 1-oz) male infant is born at term to a 35-year-old woman following an uncomplicated pregnancy and delivery…

Hypoglycemia

  • Key idea: Constellation of macrosomia + macroglossia + omphalocele/umbilical hernia most consistent with Beckwith-Wiedemann syndrome which can also lead to hypoglycemia + malignancies
  • Key idea: Patients with Beckwith-Wiedemann syndrome should be followed with serial abdominal ultrasound (looking for Wilms tumor) and alpha-fetoprotein measurement (looking for hepatoblastoma)
  • Key idea: Most common cause of macrosomia is Gestational diabetes, which would also put patient at increased risk of hypoglycemia because glucose can cross the placenta but insulin CANNOT, and therefore when pregnant woman have gestational diabetes the baby will develop islet cell hypertrophy in response to the high levels of glucose they are receiving in utero –> Therefore, newborns of mothers with gestational diabetes are at risk for hypoglycemia because their pancreas will continue to produce large amounts of insulin but they are NO LONGER receiving high levels of glucose from the mother, leading to excessive insulin pushing them to be hypoglycemic
  • Imperforate anus –> Failure to pass meconium
  • Renal tubular acidosis –> Non-Anion gap metabolic acidosis

19) A previously healthy 1-year-old boy is brought to the physician because of a 2-month history of increasing weakness and difficulty feeding…

Progressive infantile spinal muscular atrophy

  • Infant with chronic weakness with signs of a lower motor neuron defect (fasciculations, hypotonia) most consistent with spinal muscular atrophy
  • Botulism –> ACUTE descending weakness after eating honey or being exposed to dust or construction site
  • Guillain-Barre –> Patient with viral or GI illness followed by an ACUTE ASCENDING weakness often with sensory symptoms
  • Myasthenia gravis –> Oculobulbar weakness worse at the end of the day often seen in young women and old men
  • Transverse myelitis –> Spinal lesion leading to unilateral sensory and UMN signs below a certain spinal level
First AID for the USMLE Step 1 2020, Thirtieth Edition

20) A female newborn has mild cyanosis and a cardiac murmur 4 hours after an uncomplicated vaginal delivery. Heart sounds are heard…

Sepsis

  • Key idea: Asplenia –> Increased risk of infection by encapsulated bacteria (SHiN –> Strep pneumo, H influenzae, Neisseria) because the spleen often removes opsonized bacteria and encapsulated bugs require opsonization for adequate clearance
  • Key idea: Howell-Jolly bodies are a sign of functional asplenia because RBCs with Howell-Jolly bodies are typically cleared by the spleen
  • Related idea: Patients with sickle cell disease have functional asplenia due to thrombotic damage to the spleen and are therefore treated with daily penicillin until 5 years of age to reduce the risk of sepsis (primarily due to Strep pneumo)

21) A previously healthy 16-year-old girl is brought to the physician because of a 4-month history of progressive fatigue and nervousness…

TSH receptor autoantibodies

  • Adolescent girl with signs of hyperthyroidism (weight loss despite increased appetite, nervousness, tremor) found to have exophthalmos and a diffusely enlarged thyroid gland most concerning for Graves disease
  • Key idea: All causes of hyperthyroidism can lead to lid lag, but exophthalmos is quite specific for Graves disease (because the autoantibodies stimulate fibroblasts behind the eye –> Expansion of retro-orbital tissues)
  • Levothyroxine overdose –> Would NOT lead to enlarged thyroid gland
  • Lymphocytic infiltration of thyroid gland –> Hashimoto thyroiditis –> Although can lead to a transient hyperthyroid state (due to release of pre-formed thyroid hormone from the damaged thyroid gland), it would NOT persist for months

22) A 17-year-old girl comes to the physician for a routine health maintenance examination prior to beginning college…

Type 2 diabetes mellitus

  • Adolescent obese girl with signs of hyperandrogenism (hirsutism [hair growth in androgen-sensitive areas], acne) and menstrual irregularity most concerning for PCOS
  • Key idea: While insulin resistance is NOT part of the formal diagnostic criteria for PCOS, it is often a component of PCOS and should be increasingly suspected in this patient given her history of polyuria + Acanthosis nigricans (hyperpigmented plaques on neck and axillae) which are concerning for full-blown Type 2 diabetes
  • Diagnosis of PCOS requires at least 2 of the 3 following criteria:
    • Irregular menses (anovulation)
    • Polycystic ovaries on ultrasound
    • Clinical (acne, hirsutism) or laboratory (elevated testosterone) signs of hyperandrogenism
  • Cushing syndrome –> Weight gain, central obesity, buffalo hump, hypertension, etc.

23) An 18-month-old boy has had cough, coryza, vomiting, and diarrhea for 5 days and pallor and lethargy for 1 day. His mother states…

Hemolytic-uremic syndrome

  • Toddler with history of acute diarrhea who now presents with pallor with anemia, lethargy, thrombocytopenia, and an AKI with dark urine most concerning for Hemolytic-uremic syndrome
  • Mnemonic to remember the signs/symptoms of thrombotic thrombocytopenia purpura (TTP ) and hemolytic uremic syndrome (HUS) is Brain FART: Brain (neuro) symptomsFever, hemolytic Anemia, Renal disease and Thrombocytopenia
  • Schistocytes = Macroangiopathic hemolytic anemia (mechanical heart valve, aortic steonsis) or Microangiopathic hemolytic anemia (DIC, TTP, HUS, SLE, HELLP syndrome, hypertensive emergency)
  • Goodpasture syndrome –> Young adult with hemoptysis and hematuria
  • Henoch-Schonlein purpura –> Palpable purpura on buttocks, arthralgias, GI pain with increased risk of intussusception
  • PSGN –> Often seen weeks after strep pharyngitis

24) A previously healthy 7-year-old girl is admitted to the hospital because of an 11-day history of fever, fatigue, and progressive nonproductive…

Histoplasmosis

  • Young girl with contact with bird feces who presents with fever, cough and non-specific symptoms (fatigue, weight loss) found to have a lymphocytic leukocytosis, negative TB test and imaging demonstrating hilar lymphadenopathy + abundant pulmonary nodules found to have necrotizing granulomas on biopsy most consistent with histoplasmosis
  • Key idea: While histoplasmosis is most classically associated with exposure to caves in the Midwest, the reason that caves are an important risk factors is because of bird/bat droppings found within these caves that are then inhaled
  • ALL –> Significant leukocytosis + Anemia + Thrombocytopenia + Bone pain
  • Q fever –> Exposure to farm animals (often vets, farmers) who develop acute fever, cough and hepatitis with granulomas, but imaging would appear more consolidative with a lobar pneumonia-like picture

25) A 2807-g (6-lb 3-oz) newborn has a strong cry immediately after delivery. She was born at term following an uncomplicated…

Tactile stimulation and oxygen therapy

  • Key idea: For most normal newborns, the primary concerns at delivery are maintaining warmth (by keeping room warm and drying) and tactile stimulation (often through process of drying) because these stimulate respirations in the newborn
  • PPV via mask and intubation are more invasive and not yet necessary in this infant who is NOT showing signs of significant respiratory distress
https://www.medpagetoday.com/pediatrics/generalpediatrics/87380

26) A previously healthy 6-year-old boy is brought to the physician because of progressive hair loss over the past 4…

Oral antifungals

  • Key idea: Patient most likely has a kerion, which is an abscess caused by a fungal infection most commonly on the scalp secondary to tinea capitis
  • Key idea: Tinea capitis is more commonly seen in African-American children and importantly is treated with oral antifungals (Griseofulvin PO, Terbinafine PO, etc.)

27) A 17-year-old girl comes to the physician because of a 2-day history of pain in the right lower quadrant of her abdomen…

Observation

  • Adolescent girl with a functional ovarian cyst (symptomatic ovarian cyst with worsening symptoms seen with menses) –> Often managed with OCPs (to reduce pain associated with menses) and/or follow-up examination in 6 weeks (many cysts go away in 1-2 menstrual cycles)
  • Ultrasound findings of ovarian pathology:
    • Ovarian cyst: Cystic mass +/- free fluid in pelvis if ruptured
    • Serous ovarian cancer: Complex masses with solid components
    • Theca-lutein cyst: Large, bilateral cystic masses
    • Tubo-ovarian abscess: Multiloculated cystic masses with distortion of normal adnexal structures
  • Diagnostic laparoscopy –> Ruptured ectopic pregnancy, endometriosis, adhesions

28) A 12-year-old girl is brought to the physician for a well-child examination. She has no history of serious illness. Immunizations…

Within the next year

  • Key idea: Both boys and girls should ideally receive the HPV vaccine around age 11-12 because it can help these individuals avoid HPV infection once they become sexually active
  • Note: HPV vaccine can be administered up to age 26 (although recent push for this age limit to be extended), but ideally should be given at 11-12 years of age
  • First pap smear –> 21 years of age

29) A 3-week-old boy is brought to the physician 4 hours after the onset of vomiting watery, green material. His mother says that he…

Volvulus

  • Infant with acute onset of abdominal pain and bilious vomiting found to have signs of small bowel obstruction on imaging (dilated loops of bowel + air-fluid levels) most concerning for malrotation with volvulus
  • General causes of bilious emesis in a neonate:
    • Atresias: Duodenal (down syndrome), jejunal (maternal cocaine use)
    • Failure to pass meconium: Meconium ileus (cystic fibrosis, inspissated stool), Hirschsprung disease (down syndrome, squirt sign), Imperforate anus
    • Structural problems: Incarcerated hernia, malrotation with volvulus, necrotizing enterocolitis
  • Key idea: Of the diagnoses listed above, malrotation and incarcerated hernia are the main ones that could present days-weeks AFTER birth
  • Key idea: Although intussusception is most classically associated with pain being relieved by drawing knees to chest, that would more classically occur in a 2-5 year old child and leads to recurrent episodes of abdominal pain +/- bloody bowel movements
  • Pyloric stenosis –> Projectile, non-bilious vomiting (obstruction proximal to duodenum) often seen around 6 weeks of life

30) A 7-month-old girl is brought to the physician because of a 3-day history of fever and cough. She was born at term…

HIV infection

  • Infant HIV –> Recurrent viral/fungal/mycobacterial infections + Chronic diarrhea + Failure to thrive
  • Key idea: Thrush (white plaques on buccal mucosa) and Pneumocystis pneumonia –> Sign of T cell deficiency –> HIV, SCID, DiGeorge syndrome, etc.
  • Chronic granulomatous disease –> Young boy (X-linked) with recurrent skin+pulmonary infections with Catalase positive organisms (SPANS BELCH: Staph aureus, Pseudomonas, Aspergillus, Nocardia, Serratia, Burkholderia cepacea, E coli, Listeria, Candida, H pylori)
  • Complement deficiency –> Recurrent Neisseria infection
  • SCID –> Recurrent infections with all types of organisms + Failure to thrive + Absent thymus + Absent/scanty lymph nodes and tonsillar tissue
  • Wiskott-Aldrich –> WATER –> Wiskott Aldrich Thrombocytopenia Eczema Recurrent infections
  • Bruton’s agammaglobulinemia –> B cell dysfunction –> Young boy (X-linked) with recurrent sinopulmonary and mucosal infections with encapsulated bacteria and parasites
  • DiGeorge –> CATCH-22 –> Cardiac abnormalities, Abnormal facies, Thymic aplasia, Cleft lip/palate, Hypocalcemia (loss of parathyroid glands)

31) A previously healthy 16-year-old girl is brought to the physician by her parents 1 day after she fainted during soccer practice…

ECG

  • Adolescent girl with family history of sudden death who presents following a syncopal episode while exercising most concerning for hypertrophic obstructive cardiomyopathy (HOCM) or some form of arrhythmia (long QT syndrome, etc.) –> Should work-up initially with an ECG which could investigate both of these causes
  • Key idea: SYNCOPE WITH EXERTION IS VERY CONCERNING (often points to structural heart problem and/or arrhythmias) AND SHOULD ALWAYS BE WORKED-UP!!!

32) A 2-month-old boy is brought to the physician because of a 2-week history of sweating and fatigue during feedings. His mother…

Left-to-right shunt

  • Infant with sweating while eating and tachypnea/tachycardia at rest found to have a palpable parasternal lift and a blowing holosystolic murmur at the lower left sternal border most consistent with a Ventricular septal defect (most common congenital heart defect)
  • Key idea: Babies cannot move around and therefore their main form of exertion is when they are eating!
  • Key idea: The right ventricle is the most anterior portion of the heart and therefore a parasternal heave is most often indicative of increased RV pressures/hypertrophy
  • Key idea: If left-to-right shunt left untreated, over the span of years it can reverse to be a right-to-left shunt due to increased pulmonary vascular resistance making right-to-left shunt more favorable (Eisenmenger syndrome)
  • Key idea: Right-to-left shunt would lead to early cyanosis with these causes remembered with the 5 T’s
    • 1 T: Truncus arteriosus
    • 2 T: Transposition of the great vessels
    • 3 T: Tricuspid atresia
    • 4 T: Tetralogy of Fallot
    • 5 T: Total anomalous pulmonary venous return

33) A 9-year-old boy is admitted to the hospital for treatment of status asthmaticus. He is intubated and mechanically ventilated…

Alveolar collapse

  • Young patient with malpositioned tube in the right mainstem bronchus –> Absorption atelectasis of the right upper lobe of the lung (haziness in the right upper lobe)
  • Key idea: Right mainstem bronchus most likely to have a malpositioned tube for the same reason why it is most likely site of aspiration event (right mainstem bronchus is most vertical, widest, and shortest)
  • Key idea: An intubated patient with asymmetric chest expansion and/or asymmetric breath sounds often a sign of right mainstem bronchus intubation, which will NOT have hypotension or vital sign derangements like a tension pneumothorax
  • Bronchial dilation –> Bronchiectasis –> Seen in setting of recurrent infections leading to chronic productive cough

34) A 2-month-old boy is brought to the physician for a well-child examination. Pregnancy was uncomplicated. He was born at term…

Sternomastoid injury

  • Infant with head deviated to the right + Flattening of posterior right head + Mass in left neck most consistent with congenital muscular torticollis (sternocleidomastoid muscle is tight/contracted)
  • Key idea: Birth trauma or malpositioned head in utero –> Damage to sternocleidomastoid muscle –> Fibrosis
  • Clavicle fracture –> Often seen immediately/soon after a difficult delivery leading to crepitus of the clavicle + pain with movement of arm

35) A previously healthy 10-year-old boy is brought to the emergency department 1 hour after falling against the crossbar…

Retrograde urethrography

  • Young patient with straddle injury presenting with perineal hematoma and blood at urethral meatus concerning for an injury to the bulbar (spongy) urethra
  • Key idea: Retrograde urethrogram indicated in pateints with suspected urethral injury, with pelvic fracture often leading to membranous urethra damage and perineal straddle injury leading to bulbar (spongy) urethra damage –> In either case, presentation is often penile trauma +/- Blood at urethral meatus +/- hematuria +/- difficulty voiding
  • Key idea: Insertion of a catheter is CONTRAINDICATED in setting of suspected urethral injury
  • IV pyelography –> Sometimes indicated in setting of blunt genitourinary trauma (CVA pain + Hematuria following a traumatic event [often to the back])

36) A female newborn is found to have mild cyanosis periorally and of the hands and feet 4 hours after birth. She was born at…

Acrocyanosis

  • Peripheral cyanosis (hands and feet) is present in most healthy newborns (including this infant with APGAR scores of 9)
  • In contrast, central cyanosis (trunk and/or mucous membranes) is NEVER normal (and would be seen in Tetralogy of Fallot and methemoglobinemia)
  • Addison disease –> Primary adrenal insufficiency –> Hyponatremia, hyperkalemia, hyperpigmentation, hypoglycemia, hypotension

37) An asymptomatic 10-year-old boy is brought to the physician for a well-child examination. He has no history of serious illness…

Excessive intake of total calories

  • Active child who eats a healthy diet but drinks multiple glasses of milk and juice per day presenting with increased weight most likely due to increased calorie intake
  • Key idea: If Calories in > Calories out –> Weight gain
  • Key idea: Children are overweight if their BMI is greater than the 85th percentile and are obese if their BMI is greater than the 95th percentile

38) Four days after admission to the hospital for evaluation of a high-grade fever, a 12-year-old girl has decreased urine output…

Intravenous administration of calcium chloride

  • Young girl with subacute history of fever + facial rash + diffuse joint pain + Glomerulonephritis (most consistent with systemic lupus erythematosus) found to have a potassium level of 9 with ECG changes (peaked T changes) who should first receive calcium carbonate to stabilize the cardiac membrane
  • Indications for calcium carbonate in setting of hyperkalemia:
    • ECG changes
    • Potassium > 7.0
    • Rapidly rising potassium due to tissue breakdown
  • Management of hyperkalemia
    • Immediate: IV calcium to stabilize cardiac membrane
    • Quickly: Shift potassium into cells by giving:
      • Insulin + Glucose (Insulin –> K+ shift into cells)
      • Albuterol inhaler (Beta-2 agonist –> Stimulates Na/K ATPase –> K+ shift into cells)
      • Sodium bicarbonate (alkalosis –> K+ shift into cells)
    • Decrease total K+:
      • Diuretics
      • Hemodialysis (AEIOU)
      • Cation exchange resins (sodium polystyrene sulfonate)

39) A 6-year-old girl with nephrotic syndrome is brought to the physician because of a 2-day history of fever, abdominal swelling…

Spontaneous bacterial peritonitis

  • Young girl with nephrotic syndrome (protein loss) found to have abdominal distention + diffuse abdominal tenderness + fever most concerning for spontaneous bacterial peritonitis
  • Key idea: Spontaneous bacterial peritonitis formally diagnosed by ascitic fluid with PMN concentration of 250 or higher
  • Causes of Ascites:
    • Increased hydrostatic pressure
      • Portal hypertension in setting of cirrhosis
      • Increased venous pressure due to HF exacerbation
    • Decreased oncotic pressure
      • Nephrotic syndrome
      • Malnutrition/Low protein diet
  • Celiac disease –> Fat malabsorption + dermatitis herpetiformis + Iron deficiency anemia (duodenal absorption impaired –> no iron absorption in duodenum)
  • IBD –> Chronic history of abdominal pain + bloody stools + systemic findings
  • Necrotizing enterocolitis and Hirschsprung would more commonly be seen/discovered in infancy
  • Intussusception –> Toddler with recurrent episodes of abdominal pain + bloody stools that improves when knees are drawn to the chest

40) A 25-year-old woman, gravida 2, para 1, at 20 weeks’ gestation comes to the physician for a routine prenatal visit. She feels well…

Exclusively breast-feed for at least 6 months

  • Generally, infants should receive exclusive breastfeeding until 6 months of age, at which point they should receive pureed foods and then at 1 year can start having cow’s milk
  • Note: Exclusively breastfed infants require supplementation with Iron and Vitamin D

41) A 7-year-old Hispanic girl with a 1-year history of acute lymphocytic leukemia is brought to the physician for a routine examination…

Advise them to continue her medications while investigating the information further

  • Key idea: Herbal remedies can sometimes be integrated into treatment plans if they don’t interact with other medications, but they should NOT take the place of evidence-based medications (especially when managing deadly diseases such as leukemia)
  • Not appropriate to drop patient for asking a question and dismissing patient outright could fracture patient-physician relationship

42) A 2-week-old girl is brought for her first well-child examination. Newborn screening showed an increased thyroid-stimulating hormone (TSH)…

Measurement of serum thyroxine (T4) and TSH concentrations

  • Newborn born to a mother on anti-thyroid therapy has a benign exam but an elevated TSH, which may reflect true hypothyroidism or may reflect the fact that some anti-thyroid therapy crossed the placenta and suppressed thyroid hormone production in utero –> Next best step would be repeat thyroid studies after giving infant several weeks to re-establish thyroid function if it is due to placental transmission of anti-thyroid medication
  • Key idea: Hypothyroidism can negatively impact infant development, and in particular can lead to non-reversible changes in cognition/intelligence, and can be treated pretty easily, so reassurance would NOT be appropriate in this case

43) A previously healthy 16-year-old girl is brought to the emergency department by friends after they found her unresponsive at a party…

Naloxone

  • Altered mental status + Respiratory depression + Pinpoint pupils + Decreased GI activity = Opioid intoxication –> Treated emergently with naloxone (opioid receptor blocker)
  • 0.9% normal saline often useful in setting of hypotension due to distributive, hypovolemic or cardiogenic shock

44) A 4-month-old female infant is brought to the physician by her mother for a routine examination. The patient was born at 27 weeks’ gestation…

Pulmonary hypertension

  • Infant born prematurely who has required chronic oxygen therapy with abnormal pulmonary exam and signs of pulmonary hypertension (Loud S2 + Precordial Heave + Right axis deviation) most consistent with bronchopulmonary dysplasia complicated by pulmonary hypertension
  • Key idea: Loud S2 + Precordial heave = Pulmonary hypertension
  • Key idea: Oxygen can actually lead to production of free radicals and therefore infants with chronic O2 requirements can have diseases related to excess O2, most prominently bronchopulmonary dysplasia and retinopathy of prematurity (reason why Stevie Wonder is blind!)
  • Key idea: Obstructive lung disease is a known cause of pulmonary hypertension (cor pulmonale) and the reason is that the lung vasculature, in contrast to vasculature supplying the other tissues in our bodies, will constrict in the setting of hypoxia to divert blood to areas of the lung that are more well-oxygenated –> The problem in COPD, bronchopulmonary dysplasia and other obstructive lung diseases is that the entire lung has poor O2 tension such that there will be diffuse vasoconstriction –> increased pulmonary vascular resistance –> Pulmonary hypertension

45) A 7-year-old boy is brought to the emergency department 30 minutes after the onset of confusion, decreased awareness…

Oxygen

  • Young boy was found next to a space heater with altered mental status + headache + dyspnea most concerning for carbon monoxide poisoning –> Treated with 100% hyperbaric oxygen to enable O2 to displace carbon monoxide from hemoglobin
  • Key idea: Carbon monoxide poisoning classically leads to cherry-red skin + headache + altered mental status
  • Methemoglobinemia –> Methylene blue + Vitamin C
  • Iron poisoning –> Deferoxime
  • Organophosphate poisoning –> Atropine + Pralidoxime
  • Tylenol poisoning –> Acetylcysteine
  • Arsenic poisoning –> Dimercaprol

46) A previously healthy 14-year-old girl is brought to the physician because of a 6-week history of right knee pain…

Patellofemoral instability

  • Patellofemoral syndrome is a common cause of knee pain in adolescent girls and classically lead to pain in the anterior knee worse with climbing stairs, squatting or quadriceps exercises –> Treatment is with quadriceps strengthening and activity modification
  • Legg-Calve-Perthes –> Idiopathic avascular necrosis of the hip in a child ~5-7 years old
  • Septic arthritis –> Fever + joint pain + warm joint –> TAP THE KNEE!
  • Transient synovitis –> Often seen following a viral illness

47) A 15-year-old girl is brought to the emergency department 2 hours after she attempted suicide by taking an overdose…

Na: 141 // K: 4.2 // Cl: 102 // HCO3: 8

  • Key idea: Aspirin overdose leads to an early respiratory alkalosis followed by an anion-gap metabolic acidosis, with the above option being the only one demonstrating an anion-gap metabolic acidosis
  • Anion-gap = Na – (Cl + HCO3) = 141 – (102 + 8) = 31 > 12 –> Anion-gap metabolic acidosis
  • Key idea: Aspirin poisoning treated with sodium bicarbonate (alkalinizes urine) +/- hemodialysis

48) A previously healthy 16-year-old girl comes to the physician because of heavy vaginal bleeding for 5 weeks. Menarche was at the age…

Anovulation

  • Key idea: Progesterone levels should be elevated in the luteal phase of the menstrual cycle (after ovulation has taken place and the corpus luteum has been formed), but we see a low progesterone in this patient tells us that ovulation did not occur
  • Key idea: Normal for adolescents to have anovulation due to an immature HPG axis
  • Note: Von Willebrand disease is a common cause of heavy menstrual bleeding but would not explain the menstrual irregularities or abnormal progesterone levels
  • Turner syndrome –> Primary amenorrhea (absence of menstrual periods)
  • Pituitary tumor –> Hormone problems + Bitemporal hemianopsia + Headache

49) A full-term 24-hour newborn has respiratory distress and seizures. Apgar scores were 8 and 9 at 1 and 5 minutes…

Group B streptococcal sepsis

  • Newborn with respiratory distress + seizures + leukocytosis + abnormal chest x-ray + normal lumbar puncture most consistent with pneumonia c/b sepsis
  • Key idea: Early-onset sepsis often due to Group B Strep, E. Coli and Listeria acquired during passage of baby through birth canal
  • Meconium aspiration –> Respiratory distress but likely no seizures
  • Pneumococcal meningitis –> Low glucose and High WBCs with neutrophilic predominance on lumbar puncture

50) A 9-year-old girl is brought to the physician because of headache and dizziness for the past week. She has a history of recurrent urinary…

Measurement of serum urea nitrogen and creatinine concentrations

  • Young girl with history of recurrent urinary tract infections and pyelonephritis due to vesicoureteral reflux who presents with hypertension and signs of chronic hypertension (narrowing of retinal arteries) concerning for signs of chronic kidney disease complicated by hypertensive urgency which should be worked up with BUN/creatinine measurements
  • Key idea: Damage to kidney leads to impaired salt excretion –> Increased total Na+ levels –> Increased total body water –> Chronic hypertension

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