Infantile spasms as the initial symptom of biotinidase deficiency

Kalayci Ö., Coskun T., Tokatli A., Demir E., Erdem G., Güngör C., ...Daha Fazla

Journal of Pediatrics, cilt.124, sa.1, ss.103-104, 1994 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 124 Sayı: 1
  • Basım Tarihi: 1994
  • Doi Numarası: 10.1016/s0022-3476(94)70263-2
  • Dergi Adı: Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.103-104
  • Gazi Üniversitesi Adresli: Hayır

Özet

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.