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Research Article
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.

    https://doi.org/10.1136/ard.46.7.559

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