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.
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CITATION STYLE
APA
Jameson, R. A., Holt, P. J. L., & Keen, J. H. (1987). Farber’s disease (lysosomal acid ceramidase deficiency). Annals of the Rheumatic Diseases, 46(7), 559–561. https://doi.org/10.1136/ard.46.7.559
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