Mitochondrial cytopathy combined with Fanconi's syndrome

Severe muscle weakness in Fanconi's syndrome is rarely the result of mitoch ondrial cytopathy, We describe a rare case of a 9-year-old male with early onset of Fanconi's syndrome, He developed severe proximal muscle weakness e xacerbated by hypokalemia and hypophosphatemia in childhood. The muscle bio psy revealed increased accumulation of abnormal mitochondria and fat drople ts in histochemical stains and electron microscopy, Mitochondrial cytopathy cannot be excluded in Fanconi's syndrome with late onset of muscular impai rment. Long-term follow-up of his clinical course is suggested to understan d the natural history of this unusual case. (C) 2000 by Elsevier Science In c. All rights reserved.