A 7-month-old girl presented with recurrent chest infection, chocking during feeding, large protruded tongue, persistent head lag, and hepatomegaly. Chest X-ray showed cardiomegaly. All the following are beneficial in the treatment of this patient EXCEPT

Questions 64

ATI RN

ATI RN Test Bank

Endocrine System Pediatric Questions

Question 1 of 5

A 7-month-old girl presented with recurrent chest infection, chocking during feeding, large protruded tongue, persistent head lag, and hepatomegaly. Chest X-ray showed cardiomegaly. All the following are beneficial in the treatment of this patient EXCEPT

Correct Answer: A

Rationale: Pompe disease benefits from ERT (E), ventilatory support (D), and transplantation (C). Exercise therapy (A) is ineffective due to muscle glycogen accumulation; high-protein diet (B) may help marginally.

Question 2 of 5

Which of the following mucopolysaccharidoses have normal intelligence?

Correct Answer: D

Rationale: Morquio disease (MPS IV) typically preserves intelligence, unlike Sly (A), Hurler (B), Hunter (C), and Sanfilippo (E), which involve cognitive decline.

Question 3 of 5

A definitive diagnosis of mucopolysaccharidoses disorder is established by

Correct Answer: B

Rationale: Enzyme assay confirms MPS by detecting specific enzyme deficiencies, more definitive than biopsy (A), imaging (C), marrow (D), or GAG screening (E).

Question 4 of 5

All the following are features of congenital erythropoietic porphyria (CEP) EXCEPT

Correct Answer: A

Rationale: CEP, a cutaneous porphyria, causes reddish urine (B), erythrodontia (C), photosensitivity (D), and hyperbilirubinemia (E). Neuropathy (A) is typical of acute porphyrias like AIP.

Question 5 of 5

At 10:00 AM Lylaa's mother brought her 3-year-old daughter to emergency department with difficult arousal from sleep, low grade fever, and cough for the last 2 days. Fasting blood sugar was 36 mg/dL with ketonuria. Of the following, the MOST likely diagnosis is

Correct Answer: C

Rationale: Ketotic hypoglycemia, common in young children, presents with fasting hypoglycemia and ketonuria after illness, unlike metabolic disorders (A, B, D, E) with different profiles.

Access More Questions!

ATI RN Basic


$89/ 30 days

ATI RN Premium


$150/ 90 days

Similar Questions