title: An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.
abstract: We report a sporadic case of congenital muscular dystrophy (CMD) in a 13-year-old girl with early manifestation of muscle weakness and hypotonia, severe contractures, bulbar syndrome, progressive external ophtalmoplegia, and white matter changes on magnetic resonance imaging (MRI) of the brain, but no mental defect. Serum creatine kinase (CK) level was normal. Muscle biopsy revealed a dystrophic picture with a prominent inflammatory infiltrate mimicking inflammatory myopathy-typical histological findings in CMD. Immunostaining showed normal expression of merosin, alpha and beta-dystroglycans. Mutation analyses of calpain3, dysferlin, and SEPN1 genes were negative. An electron microscopy revealed the accumulation of abnormally enlarged mitochondria located under the sarcolemma. Measurement of respiratory chain enzyme activities did not reveal any biochemical defect and mitochondrial genetic studies, including sequencing of the entire mitochondrial genome, were unremarkable. Phenotypic presentation of our patient is very unusual and differs considerably from other CMD variants.
authors: Department of Pediatric Neurology, University Hospital and Masaryk University, Brno, Czech Republic. pvondracek@fnbrno.cz
authors: Petr
authors: P
authors: Vondracek
authors: Marketa
authors: M
authors: Hermanova
authors: Kristina
authors: K
authors: Vodickova
authors: Lenka
authors: L
authors: Fajkusova
authors: Emma L
authors: EL
authors: Blakely
authors: Langping
authors: L
authors: He
authors: Douglass M
authors: DM
authors: Turnbull
authors: Robert W
authors: RW
authors: Taylor
authors: Homa
authors: H
authors: Tajsharghi
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009223:Myotonic Dystrophy / Q000097:blood / Q000150:complications / Q000473:pathology; D009457:Neuroglia / Q000473:pathology*; D009886:Ophthalmoplegia / Q000209:etiology*
chemical_list: D003402:Creatine Kinase