SPEX Pediatrics 5 — Questions and Answers
Question 1: A 15-year-old female presents with primary amenorrhea, short stature, a webbed neck, and wide-spaced nipples. Karyotype shows 45,X. What is the diagnosis?
- Klinefelter syndrome
- Turner syndrome (Correct answer)
- Noonan syndrome
- Androgen insensitivity syndrome
Correct answer: Turner syndrome
Turner syndrome (45,X) presents with primary amenorrhea, short stature, webbed neck, and gonadal dysgenesis.
Question 2: A 3-year-old presents with a painless abdominal mass that does not cross the midline. CT scan shows a large renal tumor. What is the most likely diagnosis?
- Neuroblastoma
- Hepatoblastoma
- Wilms tumor (nephroblastoma) (Correct answer)
- Rhabdomyosarcoma
Correct answer: Wilms tumor (nephroblastoma)
Wilms tumor is the most common pediatric renal malignancy, typically presenting as a painless flank mass in children aged 3–4 years.
Question 3: An infant born at 28 weeks develops respiratory distress immediately after birth with grunting, nasal flaring, and intercostal retractions. Chest X-ray shows diffuse ground-glass opacities. What is the primary cause?
- Meconium aspiration syndrome
- Transient tachypnea of the newborn
- Respiratory distress syndrome (RDS) due to surfactant deficiency (Correct answer)
- Congenital pneumonia
Correct answer: Respiratory distress syndrome (RDS) due to surfactant deficiency
RDS in premature infants results from insufficient surfactant production, causing alveolar collapse and diffuse ground-glass opacities on chest X-ray.
Question 4: A 4-year-old presents with abdominal pain, palpable purpura on the buttocks and lower extremities, arthritis, and hematuria. What is the most likely diagnosis?
- Kawasaki disease
- Henoch-Schönlein Purpura (IgA vasculitis) (Correct answer)
- Juvenile idiopathic arthritis
- Systemic lupus erythematosus
Correct answer: Henoch-Schönlein Purpura (IgA vasculitis)
HSP (IgA vasculitis) is the most common childhood vasculitis, characterized by palpable purpura, arthritis, abdominal pain, and renal involvement.
Question 5: A newborn has cyanosis that improves with crying but worsens with feeding. Passing a catheter through the nose is difficult bilaterally. What is the most likely diagnosis?
- Congenital heart disease
- Choanal atresia (Correct answer)
- Pierre Robin sequence
- Vascular ring
Correct answer: Choanal atresia
Bilateral choanal atresia causes nasal airway obstruction; crying forces mouth breathing and relieves cyanosis, while feeding (nasal breathing required) worsens it.
Question 6: A 9-year-old boy presents with painless gross hematuria, tea-colored urine, periorbital edema, and hypertension 2 weeks after a strep throat infection. What is the most likely diagnosis?
- IgA nephropathy (Berger disease)
- Minimal change disease
- Post-streptococcal glomerulonephritis (Correct answer)
- Alport syndrome
Correct answer: Post-streptococcal glomerulonephritis
Post-streptococcal glomerulonephritis follows pharyngitis by 1–3 weeks and presents with hematuria, edema, hypertension, and low complement levels.
Question 7: A 2-month-old is brought in for well-child care. Which vaccine combination is given at this visit according to the CDC immunization schedule?
- DTaP, Hib, PCV13, IPV, Rotavirus, Hepatitis B (Correct answer)
- MMR, Varicella, Hepatitis A, DTaP
- Hepatitis B, Rotavirus only
- DTaP, Hib, MMR, Varicella
Correct answer: DTaP, Hib, PCV13, IPV, Rotavirus, Hepatitis B
At 2 months, infants receive DTaP, Hib, PCV13, IPV, Rotavirus, and the second dose of Hepatitis B per the CDC schedule.
SPEX Pediatrics 5
A 15-year-old female presents with primary amenorrhea, short stature, a webbed neck, and wide-spaced nipples.
Karyotype shows 45,X.
What is the diagnosis?