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Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores
Author(s) -
Avoni Patrizia,
Monari Lucia,
Carelli Valerio,
Carcangiu Roberta,
Barboni Piero,
Donati Catia,
Badiali Lucilla,
Baruzzi Agostino,
Montagna Pasquale
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200003)47:3<395::aid-ana21>3.0.co;2-c
Subject(s) - chorioretinitis , epilepsy , basal ganglia , mitochondrial encephalomyopathy , medicine , neuroscience , ophthalmology , central nervous system , psychology , biology , psychiatry , mutation , biochemistry , gene
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. Ann Neurol 2000;47:395–399