期刊
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
卷 15, 期 2, 页码 171-173出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2010.06.002
关键词
Farber lipogranulomatosis type 1; Acid ceramidase; Joint swelling; Cherry-red spot; Hoarseness; Subcutaneous nodules
Background: We report a boy with an unusually late presentation of Farber lipogranulomatosis type 1. Case study: The first symptoms appeared at the end of the first year of life in the form of joint swelling; other symptoms such as cherry-red spot, hoarseness, subcutaneous nodules appeared much later. The history of the disease, from the first symptoms till his early death, lasted 26.5 months. The neuronal dysfunction accompanied by the rapid neurological deterioration with seizures and myoclonias, rather than the general dystrophy, seemed to limit the duration of disease in our patient and provoked his early death. Diagnosis was confirmed by analysis of ceramide metabolism in cultured fibroblasts and of the ASAH1 gene, which indicated homozygosity for a novel point mutation. Conclusion: The deficient activity of acid ceramidase correlated well with poor prognosis of the disease in our boy, in contrast to late appearance of dermal nodules and the subsequent severe clinical course with fatal outcome. Farber lipogranulomatosis should be suspected in children with joint swelling as the first and only symptom of disease. In order to advance our knowledge towards establishing genotype phenotype correlations in Farber's disease, detailed analysis of the ASAH1 gene is needed. (C) 201.0 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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