Farber's disease as a ceramidosis: clinical, radiological and biochemical aspects.
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 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.
D002518:Ceramides / Q000378:metabolism; D003241:Consanguinity; D004551:Elbow Joint / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D007592:Joint Diseases / Q000151:congenital; D008064:Lipidoses / Q000151:congenital*; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn; D013577:Syndrome
D002518:Ceramides