Nervous system involvement in Farber disease

J Inherit Metab Dis. 2016 Jan;39(1):149-50. doi: 10.1007/s10545-015-9890-0. Epub 2015 Sep 15.


A 30 months-old boy with Farber disease developed nystagmus 12 months after hematopoietic stem cell transplantation (HSCT). At 40 months, gait ataxia was evident, and brain MRI showed increased size of pericerebellar sulci and 4th ventricle. EMG showed denervation in the tongue and upper limb muscles, consistent with motor neuron disease. HSCT improves the peripheral manifestations of Farber disease, but may not prevent the progressive neurological deterioration.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Farber Lipogranulomatosis / diagnosis*
  • Farber Lipogranulomatosis / pathology*
  • Hematopoietic Stem Cell Transplantation / adverse effects
  • Humans
  • Male
  • Motor Neuron Disease / diagnosis
  • Motor Neuron Disease / pathology
  • Nervous System / pathology*