Pediatrics

Match each patient's clinical presentation (indicating a specific genetic syndrome or teratogenic exposure) with the congenital heart defect most classically associated with their condition.

A 7-year-old girl is brought to the clinic by her parents due to a worsening "waddling" gait and a limp. The parents first noticed the gait abnormality 8 months ago, but it has become more pronounced recently. The patient does not complain of pain in her hips, knees, or back, and she has no history of trauma. Her parents note that she has been less energetic lately, frequently falling asleep after school, and her teacher reported a decline in her academic performance over the past two terms. She also has a history of chronic constipation requiring daily osmotic laxatives. Her height is at the 3rd percentile for her age, and her weight is at the 85th percentile. Vital signs are within normal limits. Physical examination reveals a wide-based gait. There is restricted internal rotation and abduction of both hips. Neurologic examination shows normal muscle bulk and tone, but deep tendon reflexes demonstrate delayed relaxation phases. Bilateral radiographs of the pelvis demonstrate symmetric fragmentation, flattening, and sclerosis of both capital femoral epiphyses. Which of the following is the most appropriate next step in evaluating the underlying cause of this patient's orthopedic findings?

A 30-month-old male child is evaluated in the pediatric pulmonology clinic for a persistent cough and recurrent lower respiratory tract infections. Over the previous 8 months, he has had three distinct episodes of right lower lobe pneumonia diagnosed at a local urgent care facility. Each episode presented with tachypnea and fever, and partially improved following a 7-day course of oral amoxicillin-clavulanate. His caregivers note that between these infectious episodes, he exhibits a dry, hacking cough and frequently makes a faint "whistling" noise when exhaling. They do not recall any specific choking events prior to the onset of these symptoms. The child has no history of atopic dermatitis, and his weight is at the 60th percentile for his age. Today, he appears comfortable and is afebrile with a respiratory rate of 24/min. Pulmonary auscultation reveals diminished breath sounds and a monophonic wheeze localized exclusively to the right posterior lung base. The remainder of the physical examination is unremarkable. Bilateral lateral decubitus chest radiographs are obtained; the right lung volume remains fully expanded when the patient is placed in the right lateral decubitus position, whereas the left lung volume appropriately decreases in the left lateral decubitus position. Which of the following is the most appropriate next step in the management of this patient?

A 9-year-old boy is brought to the clinic for evaluation of poor growth. Over the past 2 years, his height has decreased from the 50th to the 5th percentile, while his weight has increased from the 50th to the 75th percentile. The patient also complains of being constantly tired, feeling cold, and waking up 3 to 4 times a night to urinate and drink water. He has no significant past medical history. His temperature is $36.2^\circ\text{C}$, blood pressure is $90/60\text{ mmHg}$, and pulse is $58/\text{min}$. Physical examination shows dry skin and delayed relaxation of the deep tendon reflexes. He is at Tanner stage 1 for pubic hair and genital development.

Laboratory results are as follows:

Which of the following is the most likely etiology of this patient's current condition?

A 10-month-old boy is brought to the pediatrician by his parents for a well-child check. The parents are concerned because he is not yet sitting without support and has stopped babbling. They also report that his diapers have a distinct "musty" odor. On physical examination, the boy is noted to have very fair skin, blonde hair, and blue eyes, which contrasts significantly with his parents' dark complexions. An intensely itchy, erythematous, scaly rash is present on his cheeks and the extensor surfaces of his arms. A basic metabolic panel is unremarkable. Assuming the diagnosis is confirmed, which of the following is the most appropriate long-term management for this patient's underlying condition?

Match each clinical presentation of a pediatric cardiovascular disorder to its precise underlying embryologic or pathophysiological mechanism.

A 5-day-old female neonate is evaluated in the nursery for persistent tachycardia, irritability, and poor weight gain. She was born at 38 weeks gestation via spontaneous vaginal delivery. Her current weight is 2.8 kg, down from a birth weight of 3.2 kg. Vital signs show a temperature of $37.5^\circ\text{C}$ ($99.5^\circ\text{F}$), heart rate of $192/\text{min}$, and respiratory rate of $52/\text{min}$. Physical examination reveals a restless infant with warm, flushed skin and a wide-eyed stare. The mother has a history of Graves disease and was treated with a total thyroidectomy four years ago; she takes levothyroxine daily and maintained normal thyroid hormone levels throughout her pregnancy. Laboratory studies of the infant demonstrate a thyroid-stimulating hormone (TSH) level of $<0.01\ \mu\text{U/mL}$ and an elevated free thyroxine (T4) level. Which of the following is the most likely underlying mechanism for this neonate's clinical presentation?

A 4-day-old neonate is brought to the emergency department due to progressive lethargy, poor feeding, and vomiting. On examination, the infant is tachypneic, hypotonic, and difficult to arouse. A metabolic crisis secondary to an inborn error of metabolism, such as a urea cycle defect, is highly suspected. Arrange the following steps in the most appropriate chronological order for the acute management and diagnostic workup of this patient.

A 3-day-old full-term boy is brought to the emergency department due to poor feeding, vomiting, and increasing lethargy over the past 12 hours. He was born via uncomplicated vaginal delivery and discharged at 48 hours of life after tolerating initial formula feeds. Temperature is 35.8°C (96.4°F), heart rate is 170/min, respiratory rate is 65/min, and blood pressure is 60/40 mm Hg. Physical examination reveals a somnolent infant with hypotonia and a bulging anterior fontanelle. Initial stat laboratory results show a blood glucose of 68 mg/dL and a serum ammonia level of 950 µmol/L (normal: 15-50 µmol/L). Arterial blood gas shows a pH of 7.50, pCO2 of 28 mm Hg, and HCO3 of 22 mEq/L. Arrange the following steps in the acute management and diagnostic workup of this patient in the most appropriate chronological order of execution.

A $3$-month-old boy is brought to the emergency department in mid-February due to a $3$-day history of worsening cough and nasal congestion. Today, his parents noted that he is breathing much faster than usual and has had a significant decrease in oral intake, producing only two wet diapers over the past $12$ hours. The infant was born at term and has no significant past medical history. His temperature is $37.6^\circ\text{C}$ ($99.7^\circ\text{F}$), heart rate is $162/\text{min}$, respiratory rate is $68/\text{min}$, and oxygen saturation is $91\%$ on room air. On examination, the infant is irritable but consolable. He has prominent nasal flaring, head bobbing, and marked subcostal and intercostal retractions. Auscultation reveals diffuse expiratory wheezes and scattered crackles bilaterally. Which of the following is the most appropriate next step in management?

A 5-year-old boy is brought to the emergency department by ambulance due to continuous generalized tonic-clonic movements that started 20 minutes ago. He has no prior history of seizures. On arrival, he is actively seizing. Arrange the following initial management steps for this patient in the correct sequential order according to standard pediatric guidelines for status epilepticus.

A nine-month-old boy is brought to the pediatric emergency department following a three-minute episode of rhythmic jerking of his left arm and leg. The parents report no fever, trauma, or recent illnesses. He has been sitting without support and babbling, which the parents confirm are his baseline developmental milestones. On physical examination, vital signs are within normal limits for age. A deep red, flat vascular macule is noted over the right forehead and upper eyelid, which the parents state has been present since birth. Neurologic examination reveals mild postictal weakness in the left upper extremity. Which of the following are accurate regarding this patient's suspected diagnosis and management? (Select all that apply)

A 7-month-old infant is evaluated in the neurology clinic for abnormal movements. For the past two weeks, the parents have noticed clusters of sudden, symmetric forward flexion of the neck and trunk, particularly upon awakening. Prior to this, the infant was able to sit with support and babble, but he has recently become less interactive and can no longer sit. On physical examination, vital signs are within normal limits. The infant cannot pull to stand. Skin examination under a Wood lamp reveals three distinct 2-cm hypopigmented macules on the torso. An electroencephalogram demonstrates a high-voltage, chaotic background with multifocal spikes and slow waves. Which of the following are correct regarding the evaluation and management of this patient? (Select all that apply)

An $8$-year-old boy is brought to the emergency department by his parents due to abdominal pain, nausea, vomiting, and progressive lethargy over the past $24$ hours. The parents report that he has been drinking excessive amounts of water and urinating frequently for the past three weeks. On physical examination, he is lethargic but arousable, tachycardic, and has deep, rapid respirations with a fruity breath odor. Capillary blood glucose is measured at $480 \text{ mg/dL}$. Arrange the following steps in the most appropriate chronological sequence for the initial acute management of this patient's condition.

A 2-month-old girl is brought to the emergency department by her parents due to a 3-day history of rapid breathing, poor feeding, and severe irritability. The parents report that the infant becomes completely drenched in sweat, turns pale, and cries inconsolably about 5 minutes into every bottle feeding. She was born at 39 weeks gestation and had an uncomplicated newborn nursery course. Her weight has dropped from the 50th percentile at birth to the 5th percentile currently. Her temperature is 36.9°C (98.4°F), heart rate is 178/min, respiratory rate is 68/min, and blood pressure is 74/45 mm Hg. Pulse oximetry is 96% on room air. Physical examination shows intercostal retractions, nasal flaring, and diffuse expiratory wheezes bilaterally. Cardiac auscultation reveals a prominent S3 gallop and a grade 2/6 holosystolic murmur at the apex. The liver edge is palpable 4 cm below the right costal margin. Femoral and brachial pulses are equal and symmetric. Chest radiography demonstrates severe cardiomegaly and increased interstitial markings. Which of the following is the most appropriate next step in the management of this patient?

An 11-month-old boy is brought to the pediatric emergency department due to a 5-day history of high fever, harsh cough, nasal discharge, and red, watery eyes. Yesterday, a rash appeared on his face and has now spread down to his chest and back. His parents immigrated to the United States 3 months ago, and his immunization records are unavailable. His temperature is 39.6°C (103.3°F), heart rate is 165/min, and respiratory rate is 52/min with an oxygen saturation of 91% on room air. Physical examination reveals an irritable infant with a confluent, erythematous, maculopapular rash on the face, neck, and upper trunk. The oral mucosa has tiny white lesions on an erythematous base located on the inner cheeks. Lung auscultation reveals diffuse crackles and expiratory wheezing bilaterally. Chest radiography demonstrates diffuse, bilateral interstitial infiltrates without focal consolidation or pleural effusion. Which of the following is the most appropriate next step in the management of this patient?

A 14-year-old boy is brought to the clinic for evaluation of worsening fatigue, cold intolerance, and constipation over the past 4 months. He has also experienced frequent morning nausea and lightheadedness when standing up quickly. His parents note that his growth has slowed significantly over the past year. Eight months ago, the patient was involved in a severe motor vehicle collision that resulted in a traumatic brain injury requiring a 3-week intensive care unit stay. His height is at the 15th percentile and his weight is at the 35th percentile. Blood pressure is $90/60 \text{ mm Hg}$ while sitting and drops to $75/50 \text{ mm Hg}$ upon standing.

Laboratory evaluation reveals:
- Sodium: $132 \text{ mEq/L}$
- Potassium: $4.0 \text{ mEq/L}$
- Thyroid-stimulating hormone (TSH): $1.4 \text{ \mu U/mL}$ (Normal: $0.5 - 4.5 \text{ \mu U/mL}$)
- Free T4: $0.5 \text{ ng/dL}$ (Normal: $0.9 - 1.7 \text{ ng/dL}$)

Which of the following is the most appropriate next step in the management of this patient?

A pediatric clinic is establishing a new electronic medical record protocol that automatically prompts physicians to order specific universal screening tests during well-child visits. The clinic director wants to ensure the prompts appear at the correct milestone visits for healthy, asymptomatic children with no known risk factors. Arrange the following universal screening interventions in chronological order according to the earliest age at which the system should first prompt the physician to perform them.

A couple brings their 18-month-old son to the pediatrician for a scheduled health maintenance visit. The parents express concern that their son might be developmentally delayed. They note that he does not yet use 2-word sentences, cannot build a tower of 6 cubes, and is unable to walk up the stairs by alternating his feet. Currently, the boy runs, walks up the stairs with one hand held while placing both feet on each step, builds a tower of 3 cubes, and uses 15 individual words. He feeds himself with a spoon and enjoys playing pretend. His past medical history is unremarkable, and his vital signs are within normal limits. The boy missed his 15-month visit and is due for routine immunizations, which include the diphtheria, tetanus, and acellular pertussis (DTaP); measles, mumps, and rubella (MMR); and varicella vaccines. The child's father recently underwent a renal transplant and is currently taking mycophenolate mofetil and tacrolimus. The parents ask if it is safe to give the child his scheduled vaccines given his father's immunosuppressed status. Which of the following is the most appropriate next step in management?

While evaluating a cohort of infants on the postnatal ward, a pediatrician encounters several characteristic dermatologic presentations. Match the specific clinical and cytological findings (1-4) with their appropriate benign neonatal dermatosis diagnosis.