ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
A 15-month-old boy had recurrent hospital admissions because of fever, jaundice, subcutaneous bleeding, and hypoglycemic fits; on examination, there is hepatomegaly. In the last attack, the child developed severe legs pain associated with retraction of the neck and trunk. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Tyrosinemia type 1 fits with recurrent fever, jaundice, bleeding, hypoglycemia, hepatomegaly, and neurological symptoms (pain, retraction) from tyrosine accumulation, unlike other conditions (A, B, C, E).
Question 2 of 5
A 9-year-old boy admitted to the hospital because of fracture of left femur due to a minor trauma. Past history revealed recurrent attacks of epistaxis and intermittent generalized bone pain. On examination, there is massive splenomegaly. Of the following, the MOST appropriate practical treatment of this disease is
Correct Answer: C
Rationale: Enzyme replacement therapy (ERT) is the practical, standard treatment for Gaucher disease, reducing splenomegaly and bone issues, more widely used than gene therapy (A), transplantation (B, E), or substrate reduction (D).
Question 3 of 5
A 2-year-old girl presented with rapid deep breathing, hypoglycemia, recurrent epistaxis, easy bruising, failure to thrive, fat cheek, and hepatomegaly. Of the following, the MOST likely cause of bleeding tendency is
Correct Answer: C
Rationale: In von Gierke disease, impaired hepatic function from glycogen accumulation reduces clotting factor synthesis, causing bleeding, more than vascular issues (A), platelet count (D), or function (E).
Question 4 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 5 of 5
All the following should be restricted in hereditary fructose intolerance EXCEPT
Correct Answer: A
Rationale: HFI requires restricting fructose sources (sorbitol, juice, sugar, cereal, B-E). Milk (A), primarily lactose, is safe and not restricted.