Neonatal ophthalmoplegia with microfibers: a reversible myopathy?
An infant born with marked hypotonia showed prompt regression of skeletal muscle weakness, but by 7 weeks of age had total external ophthalmoplegia. Biopsy of the gluteus muscle at 14 days showed marked variation in fiber size with a large proportion of very small fibers (less than 3 mu). By 10 months of age, biopsy of the vastus was virtually normal. The inferior oblique muscle was replaced by fibrous tissue containing a few remaining degenerating fibers. The child was normal at 2 years of age except for mild facial weakness and ophthalmoplegia. This syndrome may be the result of a reversible intrauterine process.
D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology*; D008297:Male; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000473:pathology*; D009886:Ophthalmoplegia / Q000473:pathology*