Myoclonic epilepsy as affection of central nervous system in Farber disease

Background: Farber disease (OMIM 228000), a rare autosomal recessive disorder of lipid metabolism. The defect of the lysosomal ceramidase causes an accumulation of metabolic products in several organs and tissues.

There are five different types of Farber disease, which differ in severity, process, and symptoms. Subcutaneous skin nodules, hoarseness as well as stiffness, and contractures of the joints mainly characterize the disease. Today, there is no curative therapy but there are first successful attempts in treatment with stem cell transplantation.

Case: We report the cases of two stem cell transplanted patients with the diagnosis of Farber disease. Beside the typical symptoms like subcutaneous skin nodules, hoarseness, and contractures of the joints, both developed epilepsy with myoclonic semiology at the age between 10 and 11 years.

Conclusion: There are several reports of unspecific neurological affection in Farber disease like mental retardation. To our knowledge, a connection to epilepsy in Farber disease has not been reported yet. Because there are detected deposit of metabolic products in nervous system and the similar development of epilepsy in our two patients, a connection between the epilepsy and Farber disease would require discussion.