Premium
FARBER'S DISEASE AS A CERAMIDOSIS: CLINICAL, RADIOLOGICAL AND BIOCHEMICAL ASPECTS
Author(s) -
TOPPET M.,
VAMOSHURWITZ E.,
JONNIAUX G.,
CREMER N.,
TONDEUR M.,
PELC S.
Publication year - 1978
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1978.tb16287.x
Subject(s) - medicine , disease , radiological weapon , autosomal recessive trait , pediatrics , lysosomal storage disease , consanguinity , pathology , surgery , genetics , gene , biology
. 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 of 22 months, 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 disease is inherited as an autosomal recessive trait.