Farber disease: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Farber disease: clinical features. Feeding difficulties, Psychomotor impairment, Epilepsy, Dysphonia. Fully referenced neurology checklist.
Neurological features
- Feeding difficulties
- Psychomotor impairment
- Epilepsy
- Dysphonia
- Neuropsychiatric features
- Optic neuropathy: case report
Other features
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Differential diagnosis
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References
- Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
- Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta 2006; 1758:2057-2079.
- Ehlert K, Frosch M, Fehse N, Zander A, Roth J, Vormoor J. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 2007; 5:15.
- Ekici B, Kürkçü D, Caliskan M. Farber disease: A clinical diagnosis. J Pediatr Neurosci 2012; 7:154-155.
- Alamri AS, Alshowaeir DA, AlFaiz AA, Al Mousawi FH, Mahmoud AA, Alhashim AH. Optic nerve involvement in Farber lipogranulomatosis: expanding the phenotypic spectrum. J Neuroophthalmol 2019; 39:391-393.
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