title: Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases.
abstract: Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though this may not be accurate. Molecular genetic studies hopefully will be the answer. Our cases are the continuum of increasingly reported CMD cases with severe brain manifestations, which come from the area geographically far away from those of original descriptions.
authors.affiliation: Department of Child Neurology, Hacettepe Children's Hospital, Ankara, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: A
authors.initials: A
authors.lastname: Cila
authors.forename: A H
authors.initials: AH
authors.lastname: Taşdemir
authors.forename: I
authors.initials: I
authors.lastname: Saatçi
mesh_terms: D001927:Brain Diseases / Q000151:congenital* / Q000209:etiology / Q000473:pathology; D002648:Child; D005128:Eye Diseases / Q000151:congenital* / Q000209:etiology / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital* / Q000473:pathology; D014421:Turkey