伴有严重智力发育迟缓且头颅磁共振成像正常的缺乏merosin的先天性肌营养不良：两例同胞病例报告

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.

作者信息

Topaloğlu H, Talim B, Vignier N, Helbling-Leclerc A H, Yetük M, Afşin I E, Cağlar M, Kale G, Guicheney P

机构信息

Department of Child Neurology Hacettepe University Children's Hosptial, Ankara, Turkey. htopalogggenetic.gen.hun.edu.tr

出版信息

Neuromuscul Disord. 1998 May;8(3-4):169-74. doi: 10.1016/s0960-8966(98)00013-3.

DOI:10.1016/s0960-8966(98)00013-3

PMID:9631397

Abstract

The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the 'classical' form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not linked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dystrophy (FCMD) (9q31-33). To our knowledge, such an association may constitute a new entity within the broad clinical spectrum of CMD.

摘要

与严重智力障碍相关的严重脑结构异常证据在“经典”型以外的先天性肌营养不良（CMD）类型中具有特征性。然而，CMD的疾病分类似乎尚未完善，因为我们有临床、免疫组织化学和遗传学数据表明存在其他未分类的类型。在此，我们报告来自一个近亲家庭的两名CMD同胞，其肌肉活检显示部分merosin缺乏、严重智力障碍且脑部MRI正常。该疾病与LAMA2基因（6q22 - 23）或福山型先天性肌营养不良（FCMD）（9q31 - 33）均无关联。据我们所知，这种关联可能在CMD广泛的临床谱中构成一种新的疾病实体。