Annals of the Rheumatic Diseases 1987-Jul
Farber's disease (lysosomal acid ceramidase deficiency).
Only registered users can translate articles
Log In/Sign up
The link is saved to the clipboard
Keywords
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.