Nervous system involvement in Farber disease

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

doi:10.1007/s10545-015-9890-0

Nervous system involvement in Farber disease

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	149-150
Number of pages	2
Journal	Journal of Inherited Metabolic Disease
Volume	39
Issue number	1
DOIs	https://doi.org/10.1007/s10545-015-9890-0
Publication status	Published - Jan 1 2016

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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