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 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.
Subject(s)
Lipidoses/congenital , Ceramides/metabolism , Consanguinity , Elbow Joint/diagnostic imaging , Female , Humans , Infant , Infant, Newborn , Intellectual Disability , Joint Diseases/congenital , Lung/diagnostic imaging , Lung/pathology , Pedigree , Radiography , Respiratory Distress Syndrome, Newborn , SyndromeABSTRACT
In a case of Farber's disease, lysosomal inclusions were shown to contain lamellar, rectilinear, or curvilinear material. In tissue culture, when fibroblasts from the patient were overloaded with ceramides containing nonhydroxylated fatty acids a lysosomal accumulation of small curvilinear structures identical with those observed at autopsy were seen. These inclusions persisted for several weeks after the cells were replaced in a normal culture medium. Normal fibroblasts overloaded in the same experimental conditions showed identical, although less numerous, lysosomal inclusions, which disappeared rapidly in a ceramide-free culture medium. No inclusions were found after overloading normal or pathologic fibroblasts with ceramides containing hydroxylated fatty acids.
Subject(s)
Lipidoses/pathology , Ceramides/metabolism , Culture Techniques , Fatty Acids , Female , Fibroblasts/metabolism , Fibroblasts/ultrastructure , Histiocytes/ultrastructure , Humans , Hydroxylation , Inclusion Bodies/ultrastructure , Infant , Lipidoses/congenital , Lung/pathology , Lysosomes/ultrastructure , Skin , SyndromeSubject(s)
Carbohydrate Metabolism, Inborn Errors/diagnosis , Conjunctiva/ultrastructure , Hydrolases/analysis , Mannose/metabolism , Tears/enzymology , Adolescent , Adult , Biopsy , Carbohydrate Metabolism, Inborn Errors/genetics , Carbohydrate Metabolism, Inborn Errors/pathology , Child , Child, Preschool , Female , Humans , Infant , Male , Mannosidases/analysisABSTRACT
Addition of exogen DB-c AMP in medium of human fibroblasts culture, with 46 XX karyotypes, enables us to observe a high frequency of Barr bodies, about 80 or 85%. This observation suggests that the condensation of the X chromosome in the form of Barr bodies depends on the level of endogen cyclic AMP.
