TY - JOUR
T1 - Nervous system involvement in Farber disease
AU - Cappellari, Alberto M.
AU - Torcoletti, Marta
AU - Triulzi, Fabio
AU - Corona, Fabrizia
PY - 2016/1/1
Y1 - 2016/1/1
N2 - 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.
AB - 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.
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U2 - 10.1007/s10545-015-9890-0
DO - 10.1007/s10545-015-9890-0
M3 - Article
AN - SCOPUS:84954362213
VL - 39
SP - 149
EP - 150
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 1
ER -