Farber disease: clinical features

Evidence-based neurology checklist on farber disease: clinical features: Neurological features Feeding difficulties Psychomotor impairment Epilepsy Dysphonia Neuropsychiatric features Optic neuropathy: case report Other features Differential diagnosis

Neurological features

  • Feeding difficulties
  • Psychomotor impairment
  • Epilepsy
  • Dysphonia
  • Neuropsychiatric features
  • Optic neuropathy: case report

Other features

Differential diagnosis

References

  1. Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
  2. Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta 2006; 1758:2057-2079.
  3. 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.
  4. Ekici B, Kürkçü D, Caliskan M. Farber disease: A clinical diagnosis. J Pediatr Neurosci 2012; 7:154-155. 
  5. 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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