DETERIORATING NEUROLOGICAL AND NEURORADIOLOGICAL COURSE IN TREATED BIOTINIDASE DEFICIENCY

We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings w ere compatible with severe combined immune deficiency (SCID). Infectio us etiology of the central nervous system (CNS) involvement was ruled out. Biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzyma tic assay. Comprehensive treatment, including bone marrow transplantat ion (BMT) and biotin, resulted in immunological recovery, but no impro vement of neurological condition. Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy invo lving gray matter