Pediatrics

During a routine health maintenance visit, the parents of a 5-year-old child express concern about multiple dark spots that have appeared on the child's skin over the past few years. The parents state that the child has generally been healthy. The father notes he was briefly worried when the child began walking independently at 14 months of age, but the child now runs, climbs stairs, and speaks in complete sentences. Vital signs are within normal limits for age. Physical examination reveals seven flat, uniformly hyperpigmented, oval macules measuring 10 to 15 mm in diameter scattered across the thorax and back. Distinct clusters of small freckles are also observed in the axillary and inguinal regions. The remainder of the physical and neurological examination is unremarkable. Based on the most likely diagnosis, which of the following are appropriate components of this patient's ongoing management? (Select 2)

A $3$-week-old female infant is rushed to the emergency department by her parents after she began forcefully vomiting green-tinged fluid earlier in the day. She has vomited several times and has become increasingly lethargic over the past few hours. Her parents note that she had a normal bowel movement yesterday. The pregnancy was uncomplicated, and she was born at full term.

Vital signs reveal a heart rate of $185$/min, respiratory rate of $60$/min, and blood pressure of $62/34$ mm Hg. Her temperature is $37.9^\circ$ C ($100.2^\circ$ F). On physical examination, the infant appears pale and poorly responsive. Capillary refill time is $5$ seconds. Abdominal evaluation shows marked distension, absent bowel sounds, and involuntary guarding with rigidity when palpated. Additionally, there are scattered erythematous macules with central tiny yellow pustules on her anterior trunk.

Laboratory results are as follows:

Arterial blood gas:
pH: $7.21$
pCO $_2$: $32$ mm Hg
HCO $_3^-$: $12$ mEq/L

Serum lactate: $6.8$ mmol/L (Normal: $0.5$ - $2.2$ mmol/L)

A plain radiograph of the abdomen displays a few dilated loops of small intestine without any gas in the distal bowel. There is no evidence of free intraperitoneal air.

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

A 1-day-old male neonate is evaluated in the nursery for persistent central cyanosis. He was born at 39 weeks gestation via uncomplicated vaginal delivery to a 28-year-old primigravida. His mother had limited prenatal care but reports taking no medications during pregnancy. On examination, the infant appears comfortable but is notably cyanotic. Vital signs show a heart rate of 155/min, respiratory rate of 55/min, and oxygen saturation of 74% on room air. The cyanosis does not improve with the administration of 100% oxygen via hood. Cardiovascular examination reveals a loud, single second heart sound (S2) and a grade 3/6 holosystolic murmur at the left lower sternal border. Lungs are clear to auscultation. An electrocardiogram (ECG) demonstrates left axis deviation and tall, peaked P waves, with absent R waves in the right precordial leads. Chest radiography shows decreased pulmonary vascular markings and a normal heart size. Which of the following is the most likely diagnosis?

A 15-month-old toddler is evaluated in the outpatient clinic during mid-winter with a four-day history of low-grade fever, rhinorrhea, and worsening cough. His mother notes that he has been breathing faster than usual today and has been feeding slightly less, though he continues to produce wet diapers. The patient's past medical history is significant for atopic dermatitis, and both parents have a history of moderate persistent asthma. His temperature is $37.9^\circ\text{C}$ ($100.2^\circ\text{F}$), pulse is $148/\text{min}$, respirations are $58/\text{min}$, and pulse oximetry reveals an oxygen saturation of $95\%$ on room air. Physical examination shows an interactive child with mild intercostal retractions and copious nasal secretions. Auscultation of the lungs reveals a prolonged expiratory phase with widespread, high-pitched wheezing and bilateral coarse crackles. Which of the following is the most appropriate next step in the management of this patient?

A 6-week-old boy is evaluated in the clinic for a worsening, repetitive cough that started one week ago. His mother reports that the cough comes in rapid, machine-gun-like bursts. The infant has not had a fever and continues to breastfeed well, although he occasionally spits up after coughing. Pregnancy and vaginal delivery were uncomplicated, though the mother received limited prenatal care. At 2 weeks of age, the infant had watery, red eyes that resolved over several days without specific treatment. Vital signs are temperature 37.0°C (98.6°F), heart rate 145/min, and respiratory rate 55/min. Pulse oximetry is 97% on room air. Physical examination reveals an alert infant. Lung auscultation demonstrates bilateral scattered crackles with no prominent wheezing. A chest radiograph shows bilateral symmetrical interstitial infiltrates and hyperinflation. Laboratory studies reveal a leukocyte count of 12,000/mm³ with 12% eosinophils. Which of the following is the most appropriate pharmacotherapy for this patient?

A pediatric patient with a known history of severe hemophilia A is evaluated for acute-onset right knee pain and swelling. The child's caregivers administered the prescribed on-demand recombinant factor VIII concentrate twice over the preceding 24 hours; however, the joint effusion and pain have continued to worsen. He currently refuses to bear weight on the affected limb. Vital signs show a temperature of 37.1°C (98.8°F), heart rate of 110/min, and blood pressure of 100/65 mm Hg. Physical examination reveals a tense, warm, and highly tender right knee with a restricted range of motion. Laboratory evaluation demonstrates a normal prothrombin time (PT) and a significantly prolonged activated partial thromboplastin time (aPTT). An incubation mixing study is performed; the aPTT fails to correct upon the addition of normal plasma. Which of the following is the most appropriate next step in management?

An $18$-month-old toddler is evaluated at the primary care clinic for a cough and fever. She initially developed clear rhinorrhea and a mild cough four days ago. Yesterday, her cough worsened, and she developed a fever. Her parents report that she is drinking fluids adequately but has a decreased appetite. Her temperature is $39.2^\circ\text{C}$ ($102.6^\circ\text{F}$), pulse is $142/\text{min}$, and respiratory rate is $48/\text{min}$. Oxygen saturation is $96\%$ on room air. Physical examination reveals a well-developed child in mild respiratory distress. Auscultation of the lungs demonstrates focal crackles and decreased breath sounds over the left lower lung field. No wheezing or stridor is appreciated. Capillary refill is less than $2$ seconds. Based on these clinical findings, what is the most appropriate initial pharmacological management?

A 2-year-old girl is brought to the emergency department 30 minutes after accidentally ingesting a liquid drain cleaner containing sodium hydroxide. She is crying, drooling continuously, and refusing to swallow. Her temperature is 37.2°C (99.0°F), heart rate is 140/min, respiratory rate is 30/min, and oxygen saturation is 98% on room air. Physical examination reveals mild inspiratory stridor, swollen erythematous lips, and small ulcerations on the buccal mucosa. Arrange the following management steps in the most appropriate chronological sequence for this patient.

A 3-week-old female infant is brought to the emergency department by her parents due to poor feeding, extreme fussiness, and rapid breathing for the past 6 hours. Her vital signs are heart rate 265/min, respiratory rate 50/min, blood pressure 78/45 mm Hg, and oxygen saturation 97% on room air. Physical examination reveals a well-perfused infant with brisk capillary refill (less than 2 seconds) and normal peripheral pulses. An electrocardiogram demonstrates a regular, narrow-complex tachycardia with no discernible P waves.

Arrange the following interventions in the most appropriate sequence for managing this patient's condition, from the initial step to subsequent refractory therapies.

A 5-month-old male infant is brought to the pediatric neurology clinic by his parents due to concerns about his motor development. The parents report that he "feels like a rag doll" when lifted and has never rolled over or been able to support his head. He was born at 39 weeks gestation via uncomplicated vaginal delivery and has been exclusively breastfed. On physical examination, the infant appears alert and tracks the examiner's face with normal extraocular movements. He exhibits severe generalized hypotonia and assumes a "frog-leg" posture when placed in the supine position. Deep tendon reflexes are absent bilaterally in both the upper and lower extremities. Examination of the oral cavity reveals fine, rapid, continuous twitching movements of the resting tongue. Which of the following is the most appropriate next step in the evaluation of this patient?

A $7$-month-old boy is brought to the pediatric emergency department for extreme lethargy, diaphoresis, and recurrent vomiting. The parents state that he was completely healthy and exclusively breastfed until one month ago, when they began introducing fruit purees and juices. He frequently vomits shortly after these meals. The parents also mention they are worried about his development; although he can roll over in both directions and passes toys from one hand to the other, he is not yet able to pull himself up to a standing position. Physical examination reveals a lethargic and mildly jaundiced infant. The liver edge is palpable $4$ cm below the right costal margin.

Laboratory studies show:
Sodium: $140$ mEq/L
Potassium: $3.5$ mEq/L
Chloride: $104$ mEq/L
Bicarbonate: $14$ mEq/L
Glucose: $45$ mg/dL
Aspartate aminotransferase (AST): $180$ U/L
Alanine aminotransferase (ALT): $210$ U/L

Arterial blood gas on room air:
pH: $7.29$
PaCO2: $29$ mm Hg

Which of the following is the most accurate statement regarding this patient's presentation?

A 3-year-old boy is brought to the emergency department by his parents after vomiting a large amount of bright red blood. He has a past medical history of biliary atresia, for which he underwent a Kasai hepatoportoenterostomy during infancy, and subsequent portal hypertension. On presentation, the child appears lethargic and pale. His temperature is 37.1°C (98.8°F), heart rate is 165/min, blood pressure is 70/40 mm Hg, and respiratory rate is 28/min. He has another episode of voluminous hematemesis while in the resuscitation bay. Arrange the following management steps in the most appropriate chronological order for this patient.

A 15-year-old boy, who recently immigrated, presents to the clinic with progressive shortness of breath, generalized cyanosis, and digital clubbing. His parents report that he was diagnosed with a "hole in his heart" as an infant but never received surgical treatment due to limited medical access. Physical examination reveals a loud P2 but no significant murmur. He is diagnosed with Eisenmenger syndrome secondary to a large, unrestrictive ventricular septal defect (VSD). Arrange the following pathophysiological events in the correct chronological sequence that led to this patient's current clinical presentation, starting from the neonatal period.

An $8$-year-old boy is evaluated on the pediatric ward for sudden onset of respiratory distress. He has a medical history significant for homozygous hemoglobin S disease. He was admitted $2$ days ago for a severe vaso-occlusive pain episode affecting his bilateral lower extremities, which has been managed with intravenous hydration and morphine. Today, he developed a new-onset fever with a temperature of $39.2^\circ\text{C}$, a respiratory rate of $32/\text{min}$, and sharp right-sided chest pain. Pulse oximetry shows an oxygen saturation of $87\%$ on room air. Physical examination reveals decreased breath sounds and crackles in the right lower lung field. Laboratory studies show that his hemoglobin level has dropped from a baseline of $8.2\text{ g/dL}$ to $6.1\text{ g/dL}$, and his leukocyte count is $18,500/\text{\mu L}$. A chest radiograph demonstrates a new right lower lobe consolidation. Which of the following is the most appropriate next step in the management of this patient?

A worried couple arrives at the urgent care clinic with their 18-month-old son shortly after he experienced a full-body convulsion. According to the parents, the episode involved rhythmic shaking of all four extremities, lasted approximately 2 minutes, and stopped on its own. The child has been irritable for the past 24 hours with a prominent runny nose and a rectal temperature of 39.6°C (103.3°F). His immunizations are up to date. Vital signs are stable. On physical examination, the boy is postictal but arousable, demonstrating normal tone and no focal neurological deficits. During the interview, the parents express significant anxiety, stating they fear the seizure was caused by an underlying neurological problem. They point out that his development seems 'slow' because he 'can barely run stiffly' and only says about 15 to 20 single words. Which of the following statements are accurate regarding this patient's current status and management? (Select 2 answers)

A worried mother brings her $9$-month-old daughter to an urgent care center in late November due to rapid breathing. The infant has had a runny nose and a prominent, mucousy cough for the past $4$ days. The mother mentions that several other children at the patient's daycare have been out sick recently. The infant’s temperature is $37.8^\circ\text{C}$ ($100.0^\circ\text{F}$), pulse is $132/\text{min}$, respirations are $54/\text{min}$, and oxygen saturation is $94\%$ on room air. While the child has mild intercostal retractions, she remains playful, is tracking the physician across the room, and is feeding normally according to the mother. Physical examination reveals profuse clear rhinorrhea, diffuse expiratory wheezing, and scattered coarse crackles bilaterally. What is the most appropriate next step in managing this patient's condition?

Match each pediatric patient's clinical presentation and associated diagnostic findings with the most likely central nervous system tumor.

Parents bring their 5-week-old male infant to the outpatient pediatric clinic due to prolonged feeding times and unusual sweating. Over the past week, the mother noticed that the infant takes up to an hour to consume 2 ounces of formula, frequently pausing to catch his breath, and his forehead becomes drenched in sweat. The pregnancy and term delivery were uncomplicated, and neonatal examinations were previously documented as normal. Current vital signs include a temperature of 37.0°C (98.6°F), a heart rate of 168/min, a respiratory rate of 68/min, and an oxygen saturation of 98% on ambient air. Physical examination shows subcostal retractions and a hyperactive precordium. A grade III/VI harsh, blowing holosystolic murmur is best heard at the left lower sternal border. Palpation of the abdomen reveals hepatomegaly, with the liver edge extending 4 cm below the right costal margin. Fine crackles are audible bilaterally. Which of the following best explains the timing of this patient's symptomatic presentation?

A $2$-day-old full-term male neonate is evaluated in the neonatal intensive care unit for abdominal distension and vomiting. The emesis is dark green. The infant was born via uncomplicated vaginal delivery to a $28$-year-old primigravid woman. The prenatal course was unremarkable. The infant has not passed meconium since birth. His temperature is $37.1^\circ$ C ($98.8^\circ$ F), heart rate is $145$/min, respiratory rate is $42$/min, and blood pressure is $65/40$ mmHg. Physical examination reveals a markedly distended and firm abdomen. Bowel sounds are absent, and there is no erythema of the abdominal wall. An anteroposterior abdominal radiograph demonstrates multiple dilated loops of small bowel with a distinct lack of air-fluid levels. A bubbly, granular appearance is noted in the right lower quadrant. There is no free air under the diaphragm.

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

Match each congenital heart defect to its most characteristic physical examination finding.