On exam, he is non-dysmorphic. He has generalized hypotonia, absent head control. His deep tendon reflexes cannot be elicited however he has sustained positional clonus at the ankle. His pupils are equal ans sluggishly reactive to light. DOlls eyes are present and gaze is conjugate.
Facial movements are symmetric.
Gag is diminished. He has no organomegally and the remainder of the exam is essentially normal except for mild generalized edema which developed after the institution of NG feeds. His work-up has included enzymatic assays for Krabbes, GM1 and 2 gangliosidoses, Niemann Pick, mannosidosis, fucosidosis, MLD which were all normal. Very long chain fatty acids were normal. He has a generalized non-specific organic aciduri thought to be secondary to Valproate.