Article Text

PDF

Farber's disease (lysosomal acid ceramidase deficiency).
  1. R A Jameson,
  2. P J Holt,
  3. J H Keen
  1. Booth Hall Children's Hospital, Manchester.

    Abstract

    The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.

    Statistics from Altmetric.com

    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.