Nervous system involvement in Farber disease

Alberto M. Cappellari, Marta Torcoletti, Fabio Triulzi, Fabrizia Corona

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)149-150
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume39
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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