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.
Diagnostic Errors ; Farber Lipogranulomatosis* ; Female ; Hemangioendothelioma* ; Hemangioendothelioma, Epithelioid ; Humans ; Scalp ; Wills

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.
Demyelinating Diseases ; Diagnosis ; Fabry Disease ; Farber Lipogranulomatosis ; Gangliosidoses, GM2 ; Gangliosidosis, GM1 ; Gaucher Disease ; Hope ; Leukodystrophy, Globoid Cell ; Magnetic Resonance Imaging ; Mass Screening ; Neurophysiology ; Niemann-Pick Diseases ; Sphingolipidoses*