Connatal Pelizaeus-Merzbacher disease in two girls

被引：0

作者：

F. Ziereisen

B. Dan

F. Christiaens

P. Deltenre

R. Boutemy

C. Christophe

机构：

[1] Department of Radiology,

[2] Hôpital Universitaire des Enfants Reine Fabiola,undefined

[3] Avenue J. J. Crocq 15,undefined

[4] 1020 Brussels,undefined

[5] Belgium,undefined

[6] Department of Neurology,undefined

[7] Hôpital Universitaire des Enfants Reine Fabiola,undefined

[8] Brussels,undefined

[9] Belgium,undefined

[10] Evoked Potentials Laboratory,undefined

[11] Hôpital Universitaire Brugmann,undefined

[12] Brussels,undefined

[13] Belgium,undefined

来源：

Pediatric Radiology | 2000年 / 30卷

关键词：

Leukodystrophy; Connatal Form; Virtual Absence; Electrophysiological Sign; Recessive Transmission;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We report the clinical, radiological and electrophysiological signs in two unrelated girls with the connatal form of Pelizaeus-Merzbacher disease (PMD). MRI plays an important role in the diagnosis, demonstrating the virtual absence of myelination. PMD is classically described as an X-linked leukodystrophy. Our two cases reinforce the hypothesis of a possible autosomal recessive transmission of the connatal form of PMD in some families, as recently presented.

引用

页码：435 / 438

页数：3

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