Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy.
نویسندگان
چکیده
Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD.
منابع مشابه
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions.
PURPOSE To determine the MR appearance of cerebellar abnormalities in Fukuyama congenital muscular dystrophy. METHODS We reviewed brain MR images of 25 patients with Fukuyama congenital muscular dystrophy and examined the autopsy specimens of a 23-month-old girl with the disease to determine the pathologic nature of the MR findings. RESULTS MR studies revealed two characteristic cerebellar ...
متن کاملFukuyama-type Congenital Muscular Dystrophy and Abnormal Glycosylation of α-Dystroglycan
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose β1, 2-N-acetylglucosaminyltransferas...
متن کاملMR imaging of the brain in Fukuyama-type congenital muscular dystrophy.
Cerebral malformations in conjunction with congenital muscular dystrophy are unusual. Three such combinations have been described, including Walker-Warburg syndrome [1, 2]; muscle, eye, and brain disease [3]; and Fukuyama-type congenital muscular dystrophy (FCMD) [4] . FCMD occurs with particularly high frequency in Japan, where it is the second most prevalent form of progressive muscular dystr...
متن کاملMR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report
a genetic disease with an autosomal recessive mode of inheritance (1, 2). It is most common in Japanese patients and is the second most common form of muscular dystrophy in Japan, after Duchenne muscular dystrophy (2). FCMD causes severe mental retardation, seizures, muscular weakness soon after birth, and pathologic muscular changes that are consistent with muscular dystrophy. The typical clin...
متن کاملBrain MR in Fukuyama congenital muscular dystrophy.
PURPOSE To determine the MR characteristics of brain abnormalities in Fukuyama congenital muscular dystrophy (FCMD). METHODS We reviewed 30 MR examinations of 21 patients with FCMD to assess cerebral and cerebellar cortical dysplasia, white matter changes, and miscellaneous abnormalities. RESULTS On MR images, all patients had thick and bumpy cortices with shallow sulci corresponding to pol...
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ورودعنوان ژورنال:
- Neurology India
دوره 52 4 شماره
صفحات -
تاریخ انتشار 2004