Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

Neuromuscul Disord. 1999 Mar;9(2):81-5. doi: 10.1016/s0960-8966(98)00110-2.

Abstract

Children with merosin-deficient congenital muscular dystrophy (CMD) have striking white matter changes on T-2 weighted brain magnetic resonance imaging (MRI). There have been occasional cases with structural abnormalities, mainly involving the occipital cortex. We report our brain imaging findings in 14 children with merosin-deficient CMD. Ten cases had a severe reduction or absence of merosin on immunocytochemistry and four cases had partial reduction. All 14 cases had white matter changes, which appeared after the first 6 months of life and persisted with time. The changes were diffuse and the oldest child scanned (14 years) also showed involvement of the U fibres. Five children with total absence of merosin also had structural abnormalities. One child had moderate mental retardation and epilepsy, mainly characterised by complex partial seizures, with atypical absences, which had been difficult to treat. Brain MRI showed marked occipital agyria and pontocerebellar hypoplasia. The gyral pattern of the rest of the brain looked normal. The four other cases, all with normal intelligence, also had cerebellar hypoplasia with variable involvement of the pons. They did not, however, have neuronal migration defects. It is recognised that several forms of congenital muscular dystrophy, namely Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, have structural brain abnormalities and associated severe mental retardation. Our cases demonstrate that a range of structural malformations can also be found in a significant number of children with merosin-deficient CMD.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain / pathology
  • Brain / physiology*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Immunohistochemistry
  • Infant
  • Laminin / deficiency*
  • Magnetic Resonance Imaging*
  • Male
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / physiopathology

Substances

  • Laminin