Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores

被引：0
|
作者：
Avoni, P
Monari, L
Carelli, V
Carcangiu, R
Barboni, P
Donati, C
Badiali, L
Baruzzi, A
Montagna, P
机构：
[1] Univ Bologna, Inst Neurol, I-40126 Bologna, Italy
[2] Villa Toniolo Hosp, Dept Ophthalmol, Bologna, Italy
[3] S Orsola M Malpighi Hosp, Cytopathol Serv, Bologna, Italy
来源：
ANNALS OF NEUROLOGY | 2000年 / 47卷 / 03期
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D O I：
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中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A woman had severe psychomotor retardation, epilepsy, rigidity, and chorioretinitis. Magnetic resonance imaging showed cerebellar and cerebral atrophy and hypointensities in T2-weighted images of the thalami and basal ganglia. Muscle biopsy documented size variations in rounded muscle fibers, fibrosis, and minicores on electron microscopy. Merosin staining was normal. These hitherto unreported features do not permit classification of our patient within the current types of encephalomyopathy and congenital muscular dystrophies.
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页码：395 / 399
页数：5
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