Muscle-Eye-Brain disease.
Muscle-Eye-Brain disease.
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DOI：
10.1097/cnd.0b013e3181c5054d
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发表时间：
2010-03-01
影响因子：
--
通讯作者：
Tseng, Brian S
中科院分区：
文献类型：
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作者：
Shenoy, Anant M;Markowitz, Jennifer A;Tseng, Brian S
我们对一名足月女婴进行全面发育迟缓、张力减退、反射减退、包括面部肌肉的弥漫性虚弱和视神经发育不全的视力损害的评估。在没有家族史或围产期问题的情况下，进行了广泛的调查，包括实验室研究、肌肉活检、脑MRI和重点基因检测。结果显示血清CK升高，脑结构异常，肌肉活检显示营养不良，α -糖醛酸异常复合物存在糖基化缺陷。在已知的6个相关基因中，POMGnT1基因检测显示3个杂合错义突变。因此她的病史、检查、活检标本、影像学、实验室和遗传学研究均符合肌眼脑病的诊断。MEB是一种涉及中枢和周围神经系统的先天性疾病，在本病例报告中有进一步的描述。
A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an extensive investigation was performed, including lab studies, muscle biopsy, brain MRI and focused genetic testing. This revealed elevated serum CK, a structurally abnormal brain, and a dystrophic-appearing muscle biopsy with evidence of a glycosylation defect in the alpha-dystroglycan complex. Of the 6 known related genes, testing of the POMGnT1 gene showed three heterozygous missense mutations. Thus her history, examination, biopsy specimen, imaging, laboratory, and genetic studies are all consistent with the diagnosis of Muscle-Eye-Brain (MEB) disease. MEB is one of an emerging spectrum of congenital disorders that involve both central and peripheral nervous systems, described further in this case report.