The oculo-cerebral-renal syndrome of Lowe.
Clinical, light microscopical, ultrastructural, and biochemical studies were done on nerve and muscle biopsy specimens from five patients with the oculo-cerebral-renal syndrome of Lowe. Four patients were American Indians, a racial group in whom this disease has not previously been recognized. The hypotonia, areflexia, and diffuse atrophy of muscles are associated with slowed motor nerve conduction velocities, and the morphologic changes in sensory nerves are attributed to a "dying-back" phenomenon probably resulting from an unknown metabolic derangement.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D004576:Electromyography; D005128:Eye Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007198:Indians, North American; D008607:Intellectual Disability / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009431:Neural Conduction; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D000608:Renal Aminoacidurias / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D013577:Syndrome