06-12-2005, 03:58 AM
A 2 y.old retardet child is evaluated by a metabolic specialist.The child's hystory is significant for failure to thrive and progresive neurologic deterioration,including deafness and blindness.Physical exam is remarkable for hepatosplenomegaly,as well as a chery-red spot on fundoscopic exa..These symptoms are consistent with a diagnosis of
1/Hunter Sx
2/NiemanPick disease
3/Pompe,s disease
4/tyrosinosis
5/Von Gierle's disease
1/Hunter Sx
2/NiemanPick disease
3/Pompe,s disease
4/tyrosinosis
5/Von Gierle's disease