Infantile spasms as the initial symptom of biotinidase deficiency

Kalayci Ö., Coskun T., Tokatli A., DEMİR E., Erdem G., Güngör C., ...More

Journal of Pediatrics, vol.124, no.1, pp.103-104, 1994 (Scopus) identifier identifier identifier


Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms. (J PEDIATR 1994;124:103-4) © 1994, Mosby, Inc.. All rights reserved.