Lactic acidemia, mitochondrial myopathy, and basal ganglia calcification.
A 27-year-old man had limb weakness, short stature, neurosensory hearing loss, seizures, mild peripheral neuropathy, neurogenic bladder, elevated cerebrospinal fluid (CSF) protein content, primary lactic acidemia, and basal ganglia calcification. Muscle biopsy revealed numerous ragged-red fibers. On electronmicroscopy there were mitochondrial alterations, including many intramitochondrial inclusions. The mother of the patient had Vogt-Koyanagi-Harada syndrome, a combination of rare disorders in the same family that has not been previously described.
D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D006801:Humans; D007773:Lactates / Q000097:blood; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009468:Neuromuscular Diseases / Q000473:pathology*; D010523:Peripheral Nervous System Diseases / Q000473:pathology; D012508:Sarcolemma / Q000473:pathology; D013577:Syndrome
D007773:Lactates