婴儿痉挛症作为生物素酶缺乏症的初始症状。

Infantile spasms as the initial symptom of biotinidase deficiency.

作者信息

Kalayci O, Coskun T, Tokatli A, Demir E, Erdem G, Güngör C, Yükselen A, Ozalp I

机构信息

Department of Pediatrics, Hacettepe Children's Hospital, Ankara, Turkey.

出版信息

J Pediatr. 1994 Jan;124(1):103-4. doi: 10.1016/s0022-3476(94)70263-2.

DOI:10.1016/s0022-3476(94)70263-2

PMID:8283357

Abstract

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.

摘要

两名生物素酶缺乏症患者在1个月大时被诊断为婴儿痉挛症。生物素酶缺乏症可能在新生儿期早期出现，而没有脱发和脂溢性皮炎等典型表现。对于患有婴儿痉挛症的患者，应考虑这一诊断。