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Nervous system involvement in Farber disease
Author(s) -
Cappellari Alberto M.,
Torcoletti Marta,
Triulzi Fabio,
Corona Fabrizia
Publication year - 2016
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-015-9890-0
Subject(s) - medicine , ataxia , motor neuron , disease , denervation , gait ataxia , nystagmus , peripheral nervous system , pathology , central nervous system , anatomy , audiology , psychiatry
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.