Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.
We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial weakness, ophthalmoplegia, central nucleation, and lysis in type I fibres. The case, which is similar to that described by Bender and Bender (1977), nosologically should be classified between the centronuclear myopathies and congenital fibre type disproportion, and most likely represents a congenital or neonatal disturbance of trophic interaction between nerve and muscle.
D001763:Blepharoptosis / Q000151:congenital / Q000473:pathology; D002648:Child; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000151:congenital / Q000473:pathology; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy / Q000151:congenital* / Q000473:pathology; D009210:Myofibrils / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000151:congenital* / Q000473:pathology; D009886:Ophthalmoplegia / Q000151:congenital* / Q000473:pathology