Question

A 13-year-old boy is brought to the emergency room from a group home because of acute agitation. On examination you note choreoathetotic movements, hyperreflexia, acute agitation, self-scratching and mutilating behavior, and marked cognitive impairment. You peruse the group home chart and note that this young boy has an enzymatic deficiency in hypoxanthine-guanine phosphoribosyltransferase. Your keen memory brings you back to your pediatrics rotation in medical school and you realize the diagnosis is:

A. Tay-Sachs disease
B. Metachromatic leukodystrophy
C. Krabbe's disease
D. Gaucher's disease
E. Lesch-Nyhan syndrome

Answer 1

The 13-year-old boy's symptoms are consistent with Lesch-Nyhan syndrome, which is caused by a deficiency in the enzyme HGPRT.

Step-by-step explanation:

The correct diagnosis for the 13-year-old boy with choreoathetotic movements, hyperreflexia, acute agitation, self-scratching and mutilating behavior, and marked cognitive impairment is E. Lesch-Nyhan syndrome. Lesch-Nyhan syndrome is a rare genetic disorder caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency leads to the buildup of uric acid, which can cause neurological and behavioral symptoms. The symptoms described, including choreoathetotic movements, hyperreflexia, acute agitation, self-scratching, mutilating behavior, and cognitive impairment, are indicative of Lesch-Nyhan syndrome.

Therefore, the correct answer is: E. Lesch-Nyhan syndrome Lesch-Nyhan syndrome is a rare X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency leads to the accumulation of uric acid and neurological symptoms such as those described in the case.