A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.
In a clinically unremarkable 39 year old sister of a patient afflicted with late adult metachromatic leukodystrophy, metachromatic deposits in the epithelial cells of the urine sediment, a high sulphatide excretion in the urine, and a deficiency of arylsulphatase A in urine and leucocytes were found. The motor nerve conduction velocity of the peripheral nerves in upper and lower extremities was distinctly decreased. Cerebral disturbances were not evident. It is surmised that this patient is a case of late adult metachromatic leukodystrophy in an early stage of the disease without obvious clinical signs. The peripheral neuropathy found by neurophysiological examination is interpreted as an early symptom of the disease.
D000328:Adult; D002554:Cerebrosides / Q000652:urine*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D004569:Electroencephalography; D005260:Female; D006801:Humans; D050356:Lipid Metabolism; D008659:Metabolic Diseases / Q000150:complications*; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D013429:Sulfatases / Q000378:metabolism*; D013433:Sulfoglycosphingolipids / Q000652:urine
D002554:Cerebrosides; D013433:Sulfoglycosphingolipids; D013429:Sulfatases