ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
Guidelines suggest that prepubertal T1DM patients should commence screening for retinopathy
Correct Answer: D
Rationale: Screening for retinopathy in prepubertal T1DM begins 5 years after diagnosis (D), per ADA.
Question 2 of 5
A 28-day-old girl presented with lethargy, poor feeding, and repeated vomiting for last 5 days; IV fluid and empirical antibiotics were started; later she develops repeated seizures not responding to IV calcium, glucose, B6, and anticonvulsant drugs. Septic screen is negative; serum ammonia is elevated with normal anion gap and normal pH. Family history reveals 2 siblings died with same scenario. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Elevated ammonia with normal anion gap and pH, plus neonatal seizures and family history, points to urea cycle defects (e.g., OTC deficiency), unlike galactosemia (A), hyperglycinemia (B), organic acidemias (C), or PKU (D), which have different metabolic profiles.
Question 3 of 5
The mainstay of treatment of phenylketonurea (PKU) is especial diet. All the following statements are true EXCEPT
Correct Answer: D
Rationale: PKU diet allows some phenylalanine (A), is lifelong (B), critical in pregnancy (C), and starts above 10 mg/dL (D). Mild hyperphenylalaninemia (6-10 mg/dL) may not require diet, making E false as it suggests restriction.
Question 4 of 5
A 27-day-old girl presented with abnormal bicycling movement, lethargy, poor feeding, and repeated vomiting for the last 7 days, and then she developed rapid breathing, opisthotonos, and hypertonicity with bad odor urine. Of the following, the MOST effective mode of therapy is
Correct Answer: D
Rationale: MSUD, indicated by symptoms and urine odor, is best managed with a diet low in branched-chain amino acids to reduce toxic metabolites, more effective than hydration (A), dialysis (B), transplantation (C), or calories alone (D).
Question 5 of 5
An 11-month-old boy presented with repeated convulsions, poor eye contact, exaggerated startle response to noise, and large head. Ophthalmic exam revealed cherry-red spot. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Tay-Sachs disease causes cherry-red spots, seizures, macrocephaly, and startle response from GM2 ganglioside accumulation, matching this case, unlike others (A, B, C, E).