Article Text

PDF

A preclinical case of late adult metachromatic leukodystrophy?
  1. H. Pilz,
  2. H. C. Hopf
  1. Department of Neurology, University of Göttingen, Göttingen, Western Germany

    Abstract

    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.

    Statistics from Altmetric.com

    Manifestation only with lipid abnormalities in urine, enzyme deficiency, and decrease of nerve conduction velocity

    Footnotes

    • 1 Supported by a grant from Deutsche Forschungsgemeinschaft.

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.