Myopathy with abnormal distribution of dystrophin, growth retardation, mental retardation, and hypospadia

Pediatr Neurol. 1993 May-Jun;9(3):239-42. doi: 10.1016/0887-8994(93)90094-s.

Abstract

A 9-year-old boy with severe growth retardation, mild mental retardation, and hypospadia had a high serum CK level without muscle weakness and atrophy. Muscle biopsy revealed a moderate variation in fiber size with a few necrotic and scattered regenerating fibers. Although muscle membranes were clearly stained by immunostaining with antibody to dystrophin, N-terminal region (2-5E2), fibers in groups revealed striking, intense staining with the other antibody, C-terminal region (4C5), suggesting some aberration of the dystrophin gene near the C-terminal area. His unique clinical features, as well as myopathy, are reported, although further study is necessary to clarify the relationship between the anomalous conditions and dystrophin abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Insufficiency / genetics*
  • Adrenal Insufficiency / pathology
  • Biopsy
  • Child
  • DNA Probes
  • Dwarfism / genetics*
  • Dwarfism / pathology
  • Dystrophin / analysis
  • Dystrophin / genetics*
  • Fluorescent Antibody Technique
  • Humans
  • Hypospadias / genetics*
  • Hypospadias / pathology
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology

Substances

  • DNA Probes
  • Dystrophin