Farber disease: A Fatal Childhood Disorder with Nervous System Involvement

Farber Disease is an autosomal recessive inherited lysosomal storage disorder which is characterized by tissue accumulation of ceramide. It is caused by mutations within ASAH1 encoding for acid ceramidase. It represents a rare condition. Only twenty seven cases have been reported. Seven subtypes of Farber disease have been identified. The clinical presentation is characterized by the appearance of subcutaneous skin nodules, bone and joint deformities, and progressive hoarseness. Neurological symptoms as psychomotor delay or regression, hypotonia, seizures, and peripheral neuropathy were reported in some subtypes of Farber disease. The nervous system involvement is correlated to poor prognosis. In this study, we report on clinical, biochemical and molecular findings of two Tunisian siblings with Farber disease.