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.
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页码：435 / 438
页数：3
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