Résumé
Farber disease (FD) is a rare lysosomal storage disorder that shows autosomal recessive inheritance. We report the case of a 58-month-old girl with FD, who was misdiagnosed with epithelioid hemangioendothelioma. The patient had undergone five surgeries for sacrococcygeal masses and three surgeries for scalp masses owing to misdiagnosis. Here, we describe this rare case of FD.
Sujets)
Femelle , Humains , Erreurs de diagnostic , Lipogranulomatose de Farber , Hémangioendothéliome , Hémangioendothéliome épithélioïde , Cuir chevelu , TestamentsRésumé
Farber disease or disseminated lipogranulomatosis is a rare inherited disorder of lipid metabolism resulting from a defect in ceramide degradation. Because of the feature of nodular swellings around various joints, this may sometimes be confused with juvenile idiopathic arthritis. We report a 4-year-old boy with Farber disease who presented with nodular swellings around the joint, angle of the mouth and conjunctiva, and was subsequently diagnosed to be a case of Farber Disease.
Sujets)
Arthrite juvénile/diagnostic , Enfant d'âge préscolaire , Diagnostic différentiel , Lipogranulomatose de Farber/diagnostic , Humains , MâleRésumé
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is available. Their course and appearance, however, are usually characteristic and, together with relevant technical procedures such as magnetic resonance imaging (MRI), clinical neurophysiology, ophthalmologic examination, etc., a provisional diagnosis can be made, after which enzymatic diagnosis can close the gap in the diagnostic process. Subgroups of sphingolipidoses are grouped together, such as disorders with prominent hepatosplenomegaly (Niemann-Pick A, B and Gaucher disease) and disorders with central and peripheral demyelination (metachromic leukodystrophy and Krabbe disease). Farber disease and Fabry disease are unique in themselves. The last decade has seen hopeful progress in therapeutic strategies, especially for Gaucher disease. Therefore, emphasis of this review has been placed on these new developments.