Article
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2011
Cvitanovic-Sojat L, Gjergja Juraski R, Sabourdy F, Fensom A H, Fumic K, Paschke E, Levade T
Abstract excerpt
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...
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