Osseous Lesion at a 10 year old patient with Lipogranulomatosis (Farber Disease)

Background: The Lipogranulomatosis (Farber disease, OMIM: 228000) is a rare sphingolipidosis caused by the deficiency of the enzyme ceramidase. This enzyme catalyzes the hydrolysis of ceramide, gangliosides, sulfatides and other complex lipids, and leads to an accumulation in case of deficiency. In case of Farber disease the enzymatic disorder causes subcutaneous nodules and organic nodes featuring the characteristic clinical symptoms as hoarse voice, arthritis and stiffness. Depending on the organic affection and the clinical presentation, five different phenotypes have been discerned. In the worst cases (type I) an affection of the liver, the lung and the nervous system has been described. An osseous affection has not been described yet.

Casuistry: In our case a nine year old girl who had enzymatically been diagnosed with 18 month to have a Farber Disease, was presented to receive a neuropaediatric examination in front of a planed haploid, allogenic bone marrow transplantation. The detailed examination presented neurological pathologies as a reflex- zone amplification of the lower limbs and depleted cloni could be found. A spinal MRI was performed and showed beside an unaffected cerebral and spinal nervous system a tumorous osseus affection of the first two vertebral bodies (dens & axis). The bioptical histologic examination of this kind of osseus lesion could be ensure it as a osseous accumulation of ceramide, representing an osseous manifestation of the already known Farber Disease. In march of 2005 the planed bone marrow transplantation was realized, and had to be repeated in march of 2007 because of an acute pancytopenia. Subcutaneus and organic nodules, as well as the spinal affection, pointing to the correlation to ceramide accumulation are presenting an important decrease since the second transplantation has been realized successfully.

Conclusion: Subcutaneous, lienal, hepatic, pulmonary and nervous involvement are well known in Farber disease as rare sphingolipidosis. Osseous affections are not known or not described yet. Because of this reason patients with neurological symptoms should be subjected to a detailed search for direct or, as described in our case above, indirect affections.