title: Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.
abstract: We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families.
authors.affiliation: 2nd Pediatric Service, G. Gaslini Institute, Genoa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: L
authors.initials: L
authors.lastname: Leveratto
authors.forename: A
authors.initials: A
authors.lastname: Cama
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: P
authors.initials: P
authors.lastname: Tortori Donati
authors.forename: L
authors.initials: L
authors.lastname: Andreussi
authors.forename: C
authors.initials: C
authors.lastname: Borrone
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*