title: Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores.
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.
authors.affiliation: Institute of Neurology, University of Bologna, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Avoni
authors.forename: L
authors.initials: L
authors.lastname: Monari
authors.forename: V
authors.initials: V
authors.lastname: Carelli
authors.forename: R
authors.initials: R
authors.lastname: Carcangiu
authors.forename: P
authors.initials: P
authors.lastname: Barboni
authors.forename: C
authors.initials: C
authors.lastname: Donati
authors.forename: L
authors.initials: L
authors.lastname: Badiali
authors.forename: A
authors.initials: A
authors.lastname: Baruzzi
authors.forename: P
authors.initials: P
authors.lastname: Montagna
mesh_terms: D000328:Adult; D001480:Basal Ganglia Diseases / Q000150:complications*; D001927:Brain Diseases / Q000151:congenital*; D002825:Chorioretinitis / Q000150:complications*; D004827:Epilepsy / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009132:Muscles / Q000473:pathology; D013787:Thalamic Nuclei / Q000473:pathology