title: [Fukuyama-type congenital muscular dystrophy with the presence of ocular anomalies].
abstract: The authors report a case with Fukuyama type congenital muscular dystrophy (FCMD) and severe ocular abnormalities. Muscular dystrophy was confirmed by EMG, high muscle enzyme value and muscular biopsy. Computed tomography (CT) of the brain at 15 months of life showed mild central and cortical atrophy. Repeated CT scans at 22 and 32 months showed progressive character of the atrophy, with preservation of the cerebellar areas and the central grey matter only. Ophthalmologist examination revealed nystagmus, severe visual deficit, optic nerve atrophy and irregular color of the retina, especially in the peripheric areas. Electroretinography (ERG) was normal, cortically evoked visual responses (PEV) were absent. The association of congenital muscular dystrophy with brain changes and ocular abnormalities were found in FCMD, muscle-eye-brain disease (MEB) and Walker-Walburg syndrome (WWS). Our report, according to the recent literature, suggests that ocular lesions are caused by the same mechanism that provokes the central nervous system anomalies. It is probably of genetic origin: FCMD, MEB and WWS could be development abnormalities with a continual spectrum of disease severity.
authors.affiliation: Divisione di Pediatria, Ospedale di Castelnuovo Garfagnana, Lucca, Italia.
authors.forename: A M
authors.initials: AM
authors.lastname: Castellacci
authors.forename: R
authors.initials: R
authors.lastname: Gualtierotti
authors.forename: G
authors.initials: G
authors.lastname: Santillo
authors.forename: F
authors.initials: F
authors.lastname: Simoni
authors.forename: O
authors.initials: O
authors.lastname: Pieroni
authors.forename: R
authors.initials: R
authors.lastname: Pazzaglia
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed
vernacular_title: Distrofia muscolare congenita tipo Fukuyama con presenza di anomalie oculari.