Ohtahara syndrome with biotinidase deficiency.
Ohtahara syndrome is a rare epileptic encephalopathy in infants; the underlying etiology is generally thought to be structural brain malformations. The authors present a rare case of this type of epileptic encephalopathy in which a treatable metabolic condition such as biotinidase deficiency was suspected and diagnosed, and early institution of appropriate therapy led to a good clinical outcome.
Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. pratibhasinghi@yahoo.com
Pratibha
P
Singhi
Munni
M
Ray
D028921:Biotinidase Deficiency / Q000150:complications*; D001927:Brain Diseases / Q000150:complications*; D004827:Epilepsy / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male