Affordable Access

Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.

Authors
Journal
Journal of Neurology Neurosurgery & Psychiatry
0022-3050
Publisher
BMJ
Publication Date
Keywords
  • Research Article
Disciplines
  • Chemistry
  • Medicine

Abstract

Three siblings in a Jordanian family presented with a distinctive syndrome consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. Sural nerve biopsy revealed axonal degeneration and skin biopsy showed abnormal epidermal pigmentation. Skin fibroblast repair studies were normal. No underlying biochemical defect has been found in this previously undescribed neurocutaneous syndrome. Images

There are no comments yet on this publication. Be the first to share your thoughts.