title: Congenital muscular dystrophy with syringomyelia.
abstract: We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance imaging to detect potential spinal cord abnormalities, in addition to cranial magnetic resonance imaging to detect potential cerebral malformations.
authors.affiliation: Pediatric Clinic, University of Catania, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Parano
authors.forename: R
authors.initials: R
authors.lastname: Falsaperla
authors.forename: V
authors.initials: V
authors.lastname: Pavone
authors.forename: R R
authors.initials: RR
authors.lastname: Trifiletti
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis; D009460:Neurologic Examination; D013116:Spinal Cord / Q000473:pathology; D013595:Syringomyelia / Q000151:congenital* / Q000175:diagnosis*