title: Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy.
abstract: Mitochondrial disorders are multisystem diseases with very heterogeneous clinical manifestations. Common cardiac features include cardiomyopathy and conduction defects. We report a five-year-old boy who presented with signs of congestive cardiac failure and was diagnosed to have dilated cardiomyopathy. Six months later, he developed progressively worsening ataxia, hypotonia, other cerebellar signs, hearing loss, severe sensory peripheral neuropathy and lactic acidosis. Electronmicroscopy of skeletal muscle biopsy was consistent with mitochondrial myopathy.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110 029.
authors.forename: S
authors.initials: S
authors.lastname: Gulati
authors.forename: A
authors.initials: A
authors.lastname: Das Gupta
authors.forename: M
authors.initials: M
authors.lastname: Kabra
authors.forename: R
authors.initials: R
authors.lastname: Juneja
authors.forename: M C
authors.initials: MC
authors.lastname: Sharma
authors.forename: V
authors.initials: V
authors.lastname: Kalra
mesh_terms: D001259:Ataxia / Q000209:etiology*; D002311:Cardiomyopathy, Dilated / Q000209:etiology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000175:diagnosis