Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings

Authors

  • Janice Jing Kun Ip
  • Peter Kei Tat Hui
  • Wendy Wai Man Lam

DOI:

https://doi.org/10.3941/jrcr.v6i8.997

Keywords:

Merosin, Congenital muscular dystrophy, Magnetic resonance imaging, Laminin

Abstract

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.

Author Biographies

Janice Jing Kun Ip

Resident, Department of Radiology, Queen Mary Hospital

Peter Kei Tat Hui

Resident, Department of Radiology, Queen Mary Hospital

Wendy Wai Man Lam

Consultant, Department of Radiology, Queen Mary Hospital

Published

2012-08-26

Issue

Section

Pediatric Radiology