title: Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
abstract: BACKGROUND
  We report a boy with an unusually late presentation of Farber lipogranulomatosis type l.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, University Hospital "Sestre milosrdnice", Vinogradska cesta 29, 10 000 Zagreb, Croatia. ljerka-cvitanovic.sojat@zg.t-com.hr
authors.forename: L
authors.initials: L
authors.lastname: Cvitanovic-Sojat
authors.forename: R
authors.initials: R
authors.lastname: Gjergja Juraski
authors.forename: F
authors.initials: F
authors.lastname: Sabourdy
authors.forename: A H
authors.initials: AH
authors.lastname: Fensom
authors.forename: K
authors.initials: K
authors.lastname: Fumic
authors.forename: E
authors.initials: E
authors.lastname: Paschke
authors.forename: T
authors.initials: T
authors.lastname: Levade
mesh_terms: D055573:Acid Ceramidase / Q000235:genetics*; D017668:Age of Onset; D002675:Child, Preschool; D017523:Croatia / Q000208:ethnology; D055577:Farber Lipogranulomatosis / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C526693:ASAH1 protein, human; D055573:Acid Ceramidase