CNS FINDINGS IN CONGENITAL MUSCULAR DYSTROPHY 1A (WITH LAMININ ALPHA-2-DEFICIENCY)

被引：0

作者：

Koehler, Cornelia ^{[1
]}

Weigt-Usinger, Katharina ^{[1
]}

Heyer, Christoph M. ^{[2
]}

Thiels, Charlotte ^{[1
]}

Dekomien, Gabriele ^{[4
]}

Vorgerd, Matthias ^{[3
]}

Luecke, Thomas ^{[1
]}

机构：

[1] Ruhr Univ Bochum, Univ Childrens Hosp, Dept Neuropediat, Bochum, Germany

[2] Ruhr Univ Bochum, Dept Diagnost Radiol & Nucl Med, Bochum, Germany

[3] Ruhr Univ Bochum, Dept Neurol, Bochum, Germany

[4] Ruhr Univ Bochum, Dept Genet, Bochum, Germany

来源：

TRANSLATIONAL NEUROSCIENCE | 2011年 / 2卷 / 02期

关键词：

Central nervous system; Congenital muscular dystrophy; MRI; White matter lesions; Grey matter lesions; MEROSIN DEFICIENCY; MR SPECTROSCOPY; BRAIN; INVOLVEMENT; POPULATION; EPILEPSY;

D O I：

10.2478/s13380-011-0020-7

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Congenital muscular dystrophy (MDC) is a group of rare hereditary myopathies with an early onset of progressive muscle weakness and dystrophic changes as evidenced by muscle biopsy. Some forms are associated with severe malformations of the brain. This study presented 2 pediatric patients with genetically diagnosed congenital muscular dystrophy 1A. The patients exhibited a typical combination of muscular hypotonia, joint contractures and elevated creatine kinase levels. Characteristic white matter lesions were not present in an early MRI scan of one patient, but could be detected at the age of 18 months. The second patient showed both severe white and grey matter abnormalities (pachy microgyria) in the MRI scan. In both cases, MRI findings did not correlate with the mental development of the patients.

引用

页码：138 / 141

页数：4

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