Case Studies

#5 Case Studies: Give your diagnosis

A 4-year-old boy is brought to his physician by his mother. She is worried and tells you that her son is weak and not developing properly. He chews his fingers and lips constantly and seems to enjoy it. On examination, there is marked loss of tissues on his fingers and lips. His serum and urine uric acid are both elevated.Case Studies

What is the most likely diagnosis of this condition?

A- Gaucher disease

B- Hurler syndrome

C- Lesch-Nyhan syndrome

D- Galactosemia

E- Tay-sachs disease




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