Merosin-deficient congenital muscular dystrophy (MDCMD): a case report with MRI, MRS and DTI findings.
Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficient congenital muscular dystrophy (MDCMD) is a rare genetic disease involving the central and peripheral nervous system in the childhood. High signal intensities are often observed throughout the centrum semiovale, periventricular, and sub-cortical white matters on T2-weighted images in MRI brain in children with MDCMD. Apparent diffusion coefficient (ADC) map may reveal increased signal intensity and apparent diffusion coefficient values in the periventricular and deep white matters. These white matter findings, observed in late infancy, decrease in severity with age. The pathogenesis of these changes remains uncertain at present. In this article, we outline the specific MR imaging findings seen in a patient with documented MDCMD and also suggest the causes.
Department of Radiology, Queen Mary Hospital, Hong Kong West Cluster, HKSAR, China. JK.Janice.Ip@gmail.com
Janice J K
JJ
Ip
Peter K T
PK
Hui
M T
MT
Chau
Wendy W M
WW
Lam
D001921:Brain / Q000002:abnormalities* / Q000503:physiopathology; D002675:Child, Preschool; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000473:pathology
Congenital muscular dystrophy; Laminin; Magnetic resonance imaging; Merosin