表现为婴儿进行性脊髓性肌萎缩的新生儿肾上腺脑白质营养不良。

Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.

作者信息

Paul D A, Goldsmith L S, Miles D K, Moser A B, Spiro A J, Grover W D

机构信息

Department of Pediatrics, St Christopher's Hospital for Children, Philadelphia, PA 19134, USA.

出版信息

Pediatr Neurol. 1993 Nov-Dec;9(6):496-7. doi: 10.1016/0887-8994(93)90034-a.

DOI:10.1016/0887-8994(93)90034-a

Abstract

Two siblings with neonatal adrenoleukodystrophy are described. The signs and laboratory data documenting infantile progressive spinal muscular atrophy included the initial presentation of 1 sibling with neonatal adrenoleukodystrophy. These patients indicate that neonatal adrenoleukodystrophy should be considered in the differential diagnosis of infantile progressive spinal muscular atrophy.

摘要

本文描述了两名患有新生儿肾上腺脑白质营养不良的兄弟姐妹。记录婴儿进行性脊髓性肌萎缩的体征和实验室数据包括一名患有新生儿肾上腺脑白质营养不良的兄弟姐妹的最初表现。这些患者表明，在婴儿进行性脊髓性肌萎缩的鉴别诊断中应考虑新生儿肾上腺脑白质营养不良。

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