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

Patrizia Avoni, Lucia Monari, Valerio Carelli, Roberta Carcangiu, Piero Barboni, Catia Donati, Lucilla Badiali, Agostino Baruzzi, Pasquale Montagna

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)395-399
Number of pages5
JournalAnnals of Neurology
Volume47
Issue number3
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Neuroscience(all)

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