A Case of Biotinidase Deficiency Presenting as Quadriparesis.

ABSTRACT

Biotinidase deficiency is a rare disorder with a wide-spectrum of neurological, dermatological, and immunological dysfunction. Identification of this disorder is important as it is easily treatable and the patients show dramatic response to therapy, besides the fact that it can prove fatal if not diagnosed. We report a case of biotinidase deficiency who presented with quadriparesis, highlighting all these issues.