title: Nervous system involvement in Farber disease.
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.
authors.affiliation: Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. albertocapp@yahoo.it.
authors.forename: Alberto M
authors.initials: AM
authors.lastname: Cappellari
authors.affiliation: Pediatric Rheumatology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Torcoletti
authors.affiliation: Department of Neuroradiology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Triulzi
authors.affiliation: Pediatric Rheumatology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Corona
mesh_terms: D002675:Child, Preschool; D055577:Farber Lipogranulomatosis / Q000175:diagnosis* / Q000473:pathology*; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects; D006801:Humans; D008297:Male; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000473:pathology; D009420:Nervous System / Q000473:pathology*