Abstract
Farber’s disease or Lipogranulomatosis is one of the rare lysosomal storage disorders caused by acid ceramidase deficiency resulting in accumulation of ceramid in tissues. Farber’s disease is an autosomal recessive disease. Children with significant neurologic involvement usually die early in infancy, whereas patients without or only mild neurological findings suffer from progressive joint deformation due to periarticular granulomas, subcutaneous nodules, hoarseness and finally respiratory insufficiency caused by granuloma formation in respiratory tract and interstitial pneumonitis leading to death in the third or fourth decade of live. In this paper, we report a 2.5-year old female with hoarseness from early infancy and thereafter subcutaneous nodules and arthritis (classic type of the disease).