Background: Farber disease is a very rare autosomal recessive disease of lipid metabolism caused by deficient activity of lysosomal acid ceramidase. Symptoms can begin in the first year of life by a triad of painful and swollen joints and subcutaneous nodules, progressive hoarseness and variable central nervous system involvement.
Case Report: A 5 months old girl with subcutaneous nodules in limbs, pain and swelling in her fingers, Knees, elbow and hoarseness was referred to our clinic. She had neurodevelopment delay in walking and talking. Genetic analysis was reported homozygosity for a c.830C>A mutation in exon 11 of N-Acylsphingosine Amidohydrolase 1 (ASAH1) gene. She diagnosed with Farber disease and treated with bone marrow transplantation. After that her signs and symptoms were improved and she could to walk.
Conclusion: Farber disease is associated with characteristics including swollen joints, subcutaneous nodules, progressive hoarseness and variable CNS involvement. Moreover, bone marrow transplantation improved these symptoms.
Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)
