Vol 5-3 Case Report

Farber disease: A Fatal Childhood Disorder with Nervous System Involvement

Ichraf Kraoua1,2,3, Thouraya Ben Younes1,2,3*, Virginie Garcia4, Hanene Benrhouma1,2,3, Hedia Klaa1,2,3, Aida Rouissi1,2,3, Thierry Levade4,5, Ilhem Ben Youssef-Turki1,2,3

1Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology. Tunis, Tunisia

2Research Laboratory LR18 SP04. National Institute Mongi Ben Hmida of Neurology. Tunis, Tunisia

3University of Tunis El Manar, Faculty of Medicine of Tunis. Tunis, Tunisia

4Cancer Research Center of Toulouse, INSERM UMR1037 and Université Paul Sabatier, Toulouse, France

5Laboratory of Metabolic Biochemistry, Federative Institute of Biology, CHU Purpan, Toulouse, France

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.

DOI: 10.29245/2572-9411/2020/2.1197 View / Download Pdf