Selected Publication:

SHR Neuro Cancer Cardio Lipid Metab Microb

Cvitanovic-Sojat, L; Gjergja Juraski, R; Sabourdy, F; Fensom, AH; Fumic, K; Paschke, E; Levade, T.
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
Eur J Paediatr Neurol. 2011; 15(2):171-173 Doi: 10.1016/j.ejpn.2010.06.002 (- Case Report)
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Co-authors Med Uni Graz

Paschke Eduard

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Abstract:

BACKGROUND: We report a boy with an unusually late presentation of Farber lipogranulomatosis type l. 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. Copyright © 2010 European Paediatric Neurology Society. All rights reserved.

Find related publications in this database (using NLM MeSH Indexing)

Acid Ceramidase - genetics

Age of Onset -

Child, Preschool -

Child, Preschool - ethnology

Farber Lipogranulomatosis - genetics

Fatal Outcome -

Genetic Predisposition to Disease - genetics

Humans -

Male -

Mutation - genetics

Find related publications in this database (Keywords)

Farber lipogranulomatosis type 1

Acid ceramidase

Joint swelling

Cherry-red spot

Hoarseness

Subcutaneous nodules

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