ATI RN · Obstetrics and Pediatrics · Pediatric Endocrine Nursing Questions

A 5-year-old boy presented with chronic diarrhea. On examination he had hepatosplenomegaly, coarse facial features, joint stiffness, clear cornea, and short stature. Of the following, the MOST likely diagnosis is

A 6-year-old boy develops precocious puberty; he has acne, pubic and axillary hair, and penile enlargement with normal testicular size. His blood pressure is elevated. Lab test reveals hypokalemia, and elevated level of deoxycorticosterone. MRI of the brain is normal. Of the following, the MOST likely enzyme deficiency for this boy is

A first cousin parents brought their 3-week-old neonate with fever, vomiting, and diarrhea, on examination he is tachypnic and lethargic, lab. Investigations revealed ketoacidosis, hyperglycinemia, neutropenia, thrombocytopenia, hyperammonemia and hypoglycemia. Of the following, the MOST likely diagnosis is

The earliest radiographic sign in Hurler syndrome is

Matching: Match the disease with its enzyme - β-Glucosidase