FARBER'S DISEASE AS A CERAMIDOSIS: CLINICAL, RADIOLOGICAL AND BIOCHEMICAL ASPECTS
- 1 January 1978
- journal article
- research article
- Published by Wiley in Acta Paediatrica
- Vol. 67 (1) , 113-119
- https://doi.org/10.1111/j.1651-2227.1978.tb16287.x
Abstract
A case of Farber''s disease associated with athyreosis is reported in a Belgian infant born from consanguineous parents. A detailed clinical observation made from the early onset of symptoms until the death of the patient at age 22 mo., together with radiological, morphological and biochemical data confirmed the diagnosis of Farber''s disease and its specific storage process. Cultured fibroblast studies disclosed an abnormal catabolism of ceramides, presumably related to the deficiency in lysosomal ceramidase. Family history confirms that the diseases is inherited as an autosomal recessive trait.Keywords
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