Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers

Ital J Neurol Sci. 1988 Oct;9(5):485-9. doi: 10.1007/BF02337167.

Abstract

Two brothers with motor retardation since the first months of life presented waddling ataxic-gait with lumbar lordosis, joint contractures and generalized muscle weakness. Both presented altered cerebellar tests and scanning speech. Creatine kinase, electromyography (EMG) and muscle biopsy pointed to muscular disease while CT scanning and NMR imaging showed cerebellar vermis agenesis. On this evidence we diagnosed the unusual association of vermian agenesis and congenital muscular dystrophy.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Cerebellum / pathology*
  • Child
  • Child, Preschool
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*