Ceramides in a Patient with Lipogranulomatosis (Farber's Disease) with Chronic Course

Abstract

Ceramides were analysed by gas-liquid chromatography—mass spectrometry in a case of lipogranulomatosis with chronic course. The patient died at 16 years of age. Plasma and a subcutaneous nodule were analysed, one year before he died. The other material was obtained at autopsy. For comparison, corresponding analyses were made on control samples. In a subcutaneous nodule accumulation of ceramides (11.9 mg/g wet weight) was found. The main components were ceramides with palmitic, behenic, and lignoceric acid. Sphingosine was the main long-chain base. In the kidney the concentration of ceramides was seven times higher in the patient than in the control. The increase was mainly due to ceramides with hydroxy fatty acids (600 μg/g wet weight), which were not found in the kidney of the control. There was no indication of accumulation of either ceramides with normal constituents or abnormal ceramides in plasma, spleen, lung, liver, or brain. The patient studied had a special phenotype of lipogranulomatosis. The biochemical study has given indication that this phenotype may correspond to a particular genotype.

Key Words:

• Brain
• ceramides
• Farber's disease
• kidney
• lipogranulomatosis
• long-chain bases
• lung
• plasma
• spleen
• subcutaneous nodule