Farber disease o Lipogranulomatosis type 5 (late infantil neurological form). Ceramide deficiency. Acid ceramidase deficiency.
Incidence
Extremely rare. 3 pts reported.
Clinical Characteristics
Onset on the second or third year of life. There is severe progressive and rapid mental deterioration, seizures, polymyoclonus, ataxia, pyramidal signs. There is cherry red spots in 2/3. Subcutaneous nodules are mildly present as is evidence of arthropathy. There is no involvement of liver, spleen nor lungs. Pts die in a few months to a few yrs.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W. Foamy histiocytes are found in bone marrow and fron subcutaneous nodules. Typical inclusions in EM. Evaluation of tissue material by GC/MS or thin-layer chromatography (TLC) show ceramide accumulation.