Lipid myopathy associated with renal tubular acidosis and spastic diplegia in two brothers
Journal
Journal of the Formosan Medical Association
Journal Volume
100
Journal Issue
7
Pages
484-487
Date Issued
2001
Author(s)
Abstract
Lipid myopathy is a group of disorders involving mitochondrial fatty acid oxidation. We describe two brothers, 3 years 8 months old and 2 years 9 months old, respectively, with progressive spastic diplegia, developmental delay, failure to thrive, and chronic metabolic acidosis who had lipid myopathy and renal tubular acidosis. Brain magnetic resonance imaging revealed demyelinating changes in the periventricular white matter, which was compatible with spastic diplegia. These symptoms may be related to errors in fatty acid metabolism. Cerebral palsy had been misdiagnosed in both of these patients at another hospital. Therefore, for patients with late-onset and progressive spastic diplegia, detailed investigations for underlying diseases are warranted.
Subjects
Lipid myopathy; Renal tubular acidosis; Spastic diplegia
SDGs
Other Subjects
ammonium chloride; bicarbonate; fatty acid; thiamine; ubiquinone; article; brain ventricle; case report; cerebral palsy; chronic disease; controlled study; demyelinating neuropathy; developmental disorder; diagnostic error; disease association; failure to thrive; fatty acid metabolism; fatty acid oxidation; hearing aid; hearing impairment; human; kidney tubule acidosis; loading test; male; metabolic acidosis; metabolic disorder; mitochondrial myopathy; muscle biopsy; nuclear magnetic resonance imaging; preschool child; sibling; spastic paresis; symptom; white matter; Acidosis, Renal Tubular; Cerebral Palsy; Child, Preschool; Fatty Acids; Humans; Male; Mitochondria, Muscle; Mitochondrial Myopathies; Muscular Diseases
Type
journal article