Pediatrics

A 14-year-old boy is evaluated in the pediatric neurology clinic due to a 1-year history of progressive difficulty walking. He reports feeling unsteady and frequently trips over his own feet, especially in the dark. His parents note that his handwriting has become increasingly messy over the past few months. His early motor and language milestones were achieved at the appropriate ages. Vital signs are within normal limits. Neurological examination reveals a wide-based gait. When asked to stand with his feet together and eyes closed, he sways significantly and requires assistance to maintain his balance. Muscle strength is 5/5 in all extremities, but deep tendon reflexes are absent at the knees and ankles. Sensation to vibration and joint position is markedly diminished in the toes. Musculoskeletal examination is notable for bilateral high plantar arches and a lateral curvature of the thoracic spine. Which of the following is the most important next step in evaluation to screen for the most common cause of mortality in this condition?

A 9-month-old infant with a known, uncorrected congenital cardiac anomaly is evaluated in the pediatric triage area. His father reports that after waking up from a nap and crying vigorously, the infant's skin became notably dusky and he stopped responding to his name. Triage vital signs show a heart rate of 170/min and an oxygen saturation of 65% on room air. A harsh, crescendo-decrescendo systolic ejection murmur is prominent at the left upper sternal border. The child is currently extremely agitated, inconsolable, and tachypneic.

Arrange the following interventions in the correct chronological sequence for managing this patient's acute presentation, starting with the initial non-invasive bedside action and progressing to escalating pharmacologic steps for refractory symptoms.

A term female neonate, born at 39 weeks gestation via uncomplicated vaginal delivery, is evaluated in the nursery at 6 hours of life due to worsening central cyanosis. Her oxygen saturation is $68\%$ on room air. After receiving $100\%$ supplemental oxygen via hood for 15 minutes, her oxygen saturation only increases to $70\%$. Physical examination reveals a respiratory rate of $62/\text{min}$, equal and strong pulses in all four extremities, a prominent right ventricular impulse, and a loud, single second heart sound ($S_2$) without an appreciable murmur. Assuming the patient is ultimately found to have inadequate interatrial mixing upon diagnostic evaluation, arrange the following management steps in the most appropriate chronological sequence from initial emergency intervention to definitive treatment.

Emergency medical personnel transport an 18-month-old boy to the emergency department due to progressive lethargy and severe pallor over the past 12 hours. The patient has a known history of sickle cell disease (HbSS) and is currently prescribed daily penicillin prophylaxis. Upon arrival, his temperature is $37.0^\circ\text{C}$ ($98.6^\circ\text{F}$), heart rate is $172/\text{min}$, respiratory rate is $44/\text{min}$, and blood pressure is $65/35\text{ mm Hg}$. Physical examination reveals a somnolent toddler with marked conjunctival pallor, delayed capillary refill of 4 seconds, and cool, clammy extremities. Abdominal examination demonstrates significant distension and a firm, tender mass extending $6\text{ cm}$ below the left costal margin. Laboratory studies reveal the following:

* Hemoglobin: $3.8\text{ g/dL}$ (baseline $8.2\text{ g/dL}$)
* Reticulocytes: $16\%$
* Platelets: $45,000/\text{mm}^3$
* Leukocytes: $14,000/\text{mm}^3$

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

Parents arrive at the emergency department with their 5-month-old male infant after he experienced a 2-minute episode of generalized extremity stiffening and rhythmic jerking. The parents report that he has been increasingly lethargic over the past 48 hours. During the history, they express concern that he is not yet able to sit up without support. Physical examination reveals a lethargic infant with generalized hypotonia and sparse scalp hair. A prominently erythematous, scaling rash with skin peeling is noted around his mouth and eyes. Vital signs show a heart rate of 152/min and a respiratory rate of 50/min.

Laboratory evaluation reveals the following:

Which of the following is the most appropriate specific treatment for this patient's underlying condition?

Parents bring their 24-month-old daughter to the emergency department because she has been refusing to stand or walk for the past 48 hours. They also report that she developed new-onset urinary incontinence this morning. The patient appears irritable but is consolable. Temperature is $37.2^\circ\text{C}$ ($99.0^\circ\text{F}$), blood pressure is $115/70\text{ mmHg}$, and heart rate is $120\text{/min}$. Physical examination reveals a firm, irregular, palpable abdominal mass crossing the midline. Neurologic examination of the lower extremities shows $2/5$ motor strength bilaterally, $3+$ patellar and Achilles deep tendon reflexes, and a positive Babinski sign bilaterally. Anal sphincter tone is decreased.

Based on the most likely diagnosis, arrange the following management steps in the most appropriate chronological order of execution.

A $2$-year-old girl is brought to the emergency department by her parents because of noisy breathing and a harsh cough. Her symptoms began two days ago with a runny nose, mild congestion, and a low-grade fever. Last night, she developed a loud, "barking" cough and her voice became hoarse. Over the past $2$ hours, her parents noticed a high-pitched noise when she breathes in, even when she is sitting quietly in her mother's lap. Her temperature is $38.2^{\circ}\text{C}$ ($100.8^{\circ}\text{F}$), pulse is $142/\text{min}$, and respirations are $42/\text{min}$. Pulse oximetry is $96\%$ on room air. The patient is up-to-date on all childhood immunizations. On physical examination, the child is alert but appears anxious. There is noticeable inspiratory stridor at rest, accompanied by suprasternal and intercostal retractions. She is not drooling, and her oropharynx is clear without erythema or exudate. Auscultation of the lungs reveals transmitted upper airway sounds but no wheezing or crackles. Which of the following is the most appropriate next step in management?

A 6-year-old girl is brought to the pediatric emergency department by emergency medical services due to a generalized tonic-clonic seizure that has been ongoing for 10 minutes. She has a known history of generalized epilepsy and recently had a gastrointestinal illness with frequent vomiting. On arrival, her eyes are deviated upward, and she has rhythmic jerking of all four extremities. Intravenous access is successfully established by the nursing staff. Arrange the following steps in the most appropriate chronological sequence for the evaluation and management of this patient, assuming the seizure activity continues unabated despite each successive intervention.

Match each pediatric clinical presentation to the corresponding underlying enzyme deficiency.

A $7$-month-old boy is brought to the pediatric emergency department due to a $24$-hour history of high fever, lethargy, and foul-smelling, explosive diarrhea. According to his parents, the patient has had severe constipation since birth, often requiring glycerin suppositories to pass stool. His first meconium was passed approximately $36$ hours after birth. On presentation, his temperature is $39.2^\circ\text{C}$ ($102.6^\circ\text{F}$), pulse is $175/\text{min}$, respirations are $55/\text{min}$, and blood pressure is $72/45\text{ mmHg}$. Physical examination reveals a lethargic, ill-appearing infant with dry mucous membranes. The abdomen is markedly distended and tympanitic. Digital rectal examination is followed by a sudden expulsion of foul-smelling liquid stool and flatus. Laboratory studies show a leukocyte count of $22,000/\text{mm}^3$ with $15\%$ bands. An abdominal radiograph demonstrates significantly dilated loops of bowel with multiple air-fluid levels, but no free air under the diaphragm. Which of the following is the most appropriate next step in management?

A 4-month-old girl with trisomy 21 is evaluated in the pediatric clinic for poor feeding, diaphoresis during feeds, and inadequate weight gain over the past month. The mother reports that the infant has been breathing rapidly and occasionally wheezing. Temperature is 37.1°C (98.8°F), heart rate is 165/min, and respiratory rate is 65/min. Oxygen saturation is 95% on room air. Physical examination reveals a hyperactive precordium. Auscultation demonstrates a loud first heart sound (S1), a fixed and widely split second heart sound (S2), and a grade 3/6 holosystolic murmur best heard at the cardiac apex. A mid-diastolic rumble is also auscultated at the lower left sternal border. Lung auscultation reveals bilateral crackles and diffuse expiratory wheezing. The liver edge is palpable 3 cm below the right costal margin. Which of the following is the most likely underlying cause of this patient's current symptoms?

A 5-month-old girl is brought to the pediatric clinic by her parents due to noisy breathing that has been present since she was 2 months old. The parents report that she frequently makes a harsh, grating sound when breathing, which seems to worsen when she is crying or feeding. They have also noticed that she often tilts her head backward, which appears to ease her breathing. Over the past month, she has had episodes of choking and regurgitation during feedings, leading to poor weight gain. She has no history of fever, rhinorrhea, or cough. Two weeks ago, she was diagnosed with suspected reactive airway disease at an urgent care center and was prescribed an albuterol inhaler, which has provided no relief. Her current weight is at the 10th percentile for her age. Physical examination reveals an alert infant with biphasic stridor and mild subcostal retractions.

Which of the following is the most appropriate next step to establish the diagnosis in this patient?

A 4-year-old boy is evaluated in the pediatric clinic due to a 4-week history of increasing unsteadiness and frequent falls. His parents note that he was previously running and climbing without difficulty but has recently begun walking with his feet wide apart. He also complains of head pain upon waking in the mornings, accompanied by two recent episodes of non-bilious emesis. His developmental history was previously normal. On physical examination, his temperature is 37.0°C (98.6°F), blood pressure is 115/75 mm Hg, pulse is 80/min, and respirations are 20/min. Fundoscopic examination reveals blurred optic disc margins bilaterally. He exhibits truncal ataxia and nystagmus on lateral gaze. Which of the following is the most appropriate next step in the management of this patient?

Match each clinical presentation of a pediatric genetic syndrome to its most strongly associated congenital heart defect.

Congenital bone marrow failure syndromes and inherited cytopenias in pediatric oncology often present with characteristic combinations of hematologic laboratory abnormalities and physical exam findings. Match each of the following patient clinical vignettes with the most likely underlying syndromic diagnosis.

A fundamental understanding of developmental biology and neonatal pathophysiology is essential when evaluating surgical and medical abdominal emergencies in the pediatric population. Match each specific embryologic defect or pathophysiologic mechanism with the corresponding pediatric gastrointestinal disorder.

A $14$-month-old girl is brought to the emergency department by her parents due to a generalized tonic-clonic seizure and subsequent unresponsiveness. The parents report that she has had a mild upper respiratory tract infection for the past $48$ hours and has refused to eat or drink anything since yesterday evening. Prior to this illness, she had no medical issues and her growth and development were appropriate for her age. On physical examination, the patient is obtunded. Her temperature is $37.6^\circ\text{C}$ ($99.7^\circ\text{F}$), heart rate is $150/\text{min}$, respiratory rate is $26/\text{min}$, and blood pressure is $82/50\text{ mmHg}$. The liver edge is palpable $4\text{ cm}$ below the right costal margin.

Laboratory results are as follows:

Urinalysis is negative for ketones.

Which of the following is the most likely underlying biochemical defect in this patient?

A 16-month-old boy is rushed to the pediatric emergency department after sudden-onset choking while eating grapes at home. Upon arrival, the child is cyanotic, diaphoretic, and making high-pitched inspiratory sounds. While the triage nurse is rapidly evaluating the patient, the child abruptly loses consciousness and becomes limp.

Arrange the following next steps in the most appropriate sequence according to pediatric basic life support guidelines for an unresponsive choking child.

A $15$-month-old boy is brought to the emergency department via ambulance after experiencing a generalized tonic-clonic seizure. His parents report that he has had a low-grade fever, vomiting, and poor oral intake for the past $48$ hours. On physical examination, the child is lethargic, hypotonic, and pale. Hepatomegaly is noted on abdominal palpation. Point-of-care testing reveals a blood glucose level of $28$ mg/dL ($1.5$ mmol/L). A urinalysis is notably negative for ketones. A metabolic crisis secondary to a fatty acid oxidation defect (such as medium-chain acyl-CoA dehydrogenase deficiency) is suspected. Arrange the following steps in the most appropriate chronological sequence for the immediate management, diagnostic workup, and long-term care of this patient.

A 4-year-old boy is brought to the emergency department by his parents due to severe difficulty breathing. Over the past three days, he has had nasal congestion, a low-grade fever, and a harsh, barking cough. This morning, his fever spiked and he became increasingly lethargic. His immunizations are up to date. His temperature is 39.8°C (103.6°F), pulse is 155/min, respirations are 48/min, and blood pressure is 100/65 mm Hg. Pulse oximetry shows 92% on room air. On examination, the child appears toxic, anxious, and is leaning forward slightly, but there is no drooling. He has marked inspiratory stridor at rest and severe suprasternal retractions. The patient is administered nebulized racemic epinephrine and intravenous dexamethasone; however, reassessment 30 minutes later reveals no improvement in his work of breathing or stridor. Which of the following is the most appropriate next step in management?