A 7-year-old boy is brought to the emergency department with nausea, vomiting, and abdominal pain.  He has been increasingly tired for the past month and has experienced abdominal pain and nausea for the past 2 days.  His temperature is 36.7 C (98 F), blood pressure is 92/56 mm Hg, pulse is 134/min, and respirations are 24/min.  Physical examination shows a tired but cooperative patient with dry mucous membranes.  His lungs are clear to auscultation.  The abdomen is soft, nondistended, and mildly tender in all quadrants.  Bowel sounds are normal.  There is no rebound or guarding.  Laboratory results are as follows:

Urinalysis shows a specific gravity of 1.030, ketonuria, and glucosuria.  A 10-mL/kg bolus of normal saline is administered intravenously over an hour.  An insulin drip is then started.  Which of the following is the most appropriate next step in management of this patient?

A 6-year-old girl is brought to the clinic for evaluation of acne.  Her parents first noticed mild acne on her forehead and nose 3 weeks ago as well as adult-type body odor that requires her to bathe more frequently.  The patient was born at 35 weeks gestation but has no ongoing medical conditions.  Blood pressure is normal.  Weight is at or above the 97th percentile and height is at the 97th percentile.  BMI is at or above the 97th percentile.  Comedonal acne is present on the forehead, cheeks, and nose but not on the back or chest.  Fundoscopic examination and pupillary reaction are normal bilaterally.  Cardiopulmonary examination is normal.  The areolae are enlarged, and breast tissue is palpable bilaterally.  The abdomen is soft and nontender with no palpable masses.  Coarse, dark pubic hair is noted.  Bone age is 9 years.  Laboratory results are as follows:

Which of the following is the most likely diagnosis in this patient?

An 8-year-old boy is brought to the emergency department after 3 days of vomiting, diarrhea, and high fevers.  He has had no changes in weight, urine output, or oral intake.  The patient has mild persistent asthma for which he takes inhaled fluticasone twice daily and inhaled albuterol as needed.  His family history includes a maternal grandmother with type 2 diabetes mellitus.  Temperature is 39.4 C (103 F), blood pressure is 70/30 mm Hg, pulse is 176/min, and respirations are 34/min.  BMI is 20 kg/m².  Examination shows a sleepy-appearing child with dry mucous membranes, prolonged capillary refill, hyperactive bowel sounds, and soft and nontender abdomen.  Initial laboratory results are as follows:

Which of the following is the most likely explanation for this patient’s hyperglycemia?

An 8-year-old girl is brought to the emergency department by her mother for evaluation of blurry vision.  The patient reports that she woke up this morning with a sudden onset of blurry vision.  Her mother states, “She has worn thick glasses since age 2, but this morning she said that everything was blurry in her left eye, even with her glasses on.”  There is no associated erythema or discharge.  The patient does not recall any trauma.  The girl has no chronic medical conditions and has had no surgeries.  She is an honor roll student in the 3rd grade.  The patient lives with her mother, and her father left when she was an infant.  The mother’s medical history is unremarkable but she says, “I think her father had a similar problem when he was younger and had a weak heart.”  The patient is at the 50th and >95th percentiles for weight and height, respectively.  She is alert and in no distress.  The right pupil is 4 mm and briskly reactive; the left pupil is 1 mm.  Bilateral globes appear intact with no conjunctival injection.  Extraocular eye movements are intact bilaterally and visual fields are full to confrontation bilaterally.  A dilated direct ophthalmoscopic examination followed by a slit-lamp examination of the left eye reveals the following:

Which of the following conditions is this patient at greatest risk of developing?

A 10-day-old boy born at home is brought to the emergency department due to difficulty breathing and sweating with feeds.  He was born at 38 weeks gestation via spontaneous vaginal delivery.  The patient has been breastfeeding every 2 hours for 5-10 minutes per side.  The mother notes that he sweats and his lips turn blue while he feeds.  Weight is at the 5th percentile and length is at the 50th percentile.  On examination, the patient is currently not cyanotic.  There is a III/VI systolic crescendo-decrescendo murmur best heard along the left upper sternal border.  Chest x-ray is shown below:

Which of the following pressure changes most likely occur in this patient during feedings?

A newborn boy is examined shortly after cesarean delivery at 39 weeks gestation to a 26-year-old woman, gravida 1 para 1, with gestational diabetes mellitus.  First-trimester laboratory testing was normal, and second-trimester ultrasound showed no anomalies.  At 28 weeks gestation, oral glucose tolerance testing indicated hyperglycemia, for which the patient’s mother initiated dietary modification and exercise.  At 34 weeks gestation, maternal fasting blood sugars were consistently >100 mg/dL.  She was started on subcutaneous insulin therapy but was frequently hyperglycemic.  Other than prenatal vitamins, the patient’s mother did not take any medications and did not use tobacco, alcohol, or recreational drugs.  The infant’s birthweight is 3.99 kg (8.8 lb).  Temperature is 36.8 C (98.2 F), blood pressure is 70/40 mm Hg, pulse is 150/min, and respirations are 62/min.  Pulse oximetry on room air is 92% in the right upper extremity and 93% in the left lower extremity.  Examination shows a nondysmorphic infant with mild tachypnea, nasal flaring, and retractions.  Auscultation reveals a heart murmur, but breath sounds are clear.  Chest radiograph reveals mild pulmonary congestion.

Item 1 of 2

An echocardiogram in this neonate would most likely show which of the following findings?

Item 2 of 2

An echocardiogram confirms the suspected cardiac abnormality.  After the physician explains the condition, the parents express concerns about the prognosis.  Which of the following is the most appropriate response to the parents?

A 9-month-old boy is brought to the emergency department by his parents as he is not “acting like himself.”  The parents report that he has always been a fussy baby and often awakens multiple times a night.  However, yesterday he cried the entire night and seemed more tired than usual this morning.  The infant typically eats yogurt and formula for breakfast but refused to eat this morning and vomited 3 times.  His mother says, “He may have hit his head on the floor after climbing onto and then rolling off the couch 2 days ago.  He recently started crawling and often bumps into furniture around the house.”  The infant was born at term via an uncomplicated vaginal delivery.  He was evaluated several times in the emergency department between ages 3 and 5 months for fussiness and was diagnosed with colic.  His mother is currently taking antibiotics for bacterial pharyngitis; otherwise, there are no sick contacts or contributory family history.  Temperature is 37 C (98.6 F) and pulse is 125/min.  Height and weight are at the 75th and 50th percentiles, respectively.  On examination, the infant is lethargic.  The lungs are clear to auscultation and there are no murmurs.  The abdomen is soft and nondistended.  A small bruise is present on the buttocks; there are no additional rashes, lesions, or bruises.

Item 1 of 2

Which of the following additional findings is most likely present in this patient?

Item 2 of 2

The infant’s airway is secured, and his condition is stabilized.  Which of the following is the best next step in management of this patient?

A 16-year-old boy is brought to the emergency department by his mother after a single episode of generalized tonic-clonic seizure.  The patient has been staying up late studying for midterm examinations and has been feeling “more tired than usual” for the last few days.  For the last 6 months, he has had occasional jerking arm movements in the morning but was not medically evaluated, as they were brief and he otherwise “felt fine.”  The patient has had no recent fevers, vomiting, or headaches.  He does not use alcohol or recreational drugs.  His mother describes the patient as “anxious,” but he has no chronic medical conditions and takes no medications.  Temperature is 37.2 C (99 F), blood pressure is 120/60 mm Hg, and pulse is 72/min.  On physical examination, the patient is drowsy but responsive to commands and oriented to person, place, and time.  Cardiac examination reveals a regular rate and rhythm without murmurs.  Cranial nerves II through XII are intact; there are no focal deficits.  Deep tendon reflexes are normal in the upper and lower extremities, and plantar responses are flexor.  There are no rashes or petechiae.  Electroencephalogram shows bilateral polyspike and slow wave discharges.

Item 1 of 2

Which of the following is the best next step in management of this patient’s condition?

Item 2 of 2

The patient receives appropriate treatment.  He will require routine monitoring for which of the following medication adverse effects?

A 6-year-old boy is brought to the emergency department by his parents with a 2-day history of fever and headaches.  The parents report that he vomited once this afternoon.  All of his vaccinations are up-to-date and he has no significant past medical history.  His temperature is 38.7 C (102 F).  Examination shows mild pharyngeal erythema in addition to neck stiffness.  Cerebrospinal fluid analysis reveals the following:

Which of the following infectious agents is most likely to have caused this patient’s illness?

A 15-month-old boy is brought to the emergency department by ambulance after an episode of “jerking movements” at home.  The patient was sitting in the living room with his toys when he suddenly developed uncontrollable rhythmic jerking of his extremities that lasted approximately 2 minutes.  His eyes deviated leftward, and he was nonresponsive during this event.  The patient did not hit his head before or after the incident.  He creeps but has not begun crawling or pulling to stand.  The patient says “mama” but speaks no other words.  Growth parameters are at the 50th percentile for age and sex.  His vital signs are within normal limits.  Physical examination shows hypopigmented lesions on the patient’s back.  Cardiopulmonary examination is unremarkable.

Item 1 of 2

Which of the following tests should be performed in evaluation of this patient?

Item 2 of 2

Genetic testing in the patient shows a mutation in the tuberous sclerosis complex 1 (TSC1) gene.  Which of the following comorbidities is the predominant cause of death in patients with tuberous sclerosis?