title: A case of infantile neuroaxonal dystrophy of neonatal onset.
abstract: Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first or second year of life. Mutations in the PLA2G6 gene encoding iPLA2-VI, a calcium-independent phospholipase, have been identified in these children. In classic infantile neuroaxonal dystrophy-affected children, psychomotor regression is the most frequent presentation, usually with ataxia and optic atrophy, followed by the development of tetraparesis. We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia, marked weakness, and bulbar signs suggesting that infantile neuroaxonal dystrophy can start at birth with atypical phenotype.
authors.affiliation: Pediatric Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy fusco.carlo@asmn.re.it.
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
authors.affiliation: Pediatric Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.affiliation: Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
authors.forename: Celeste
authors.initials: C
authors.lastname: Panteghini
authors.affiliation: Neurodiology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
authors.forename: Rosario
authors.initials: R
authors.lastname: Pascarella
authors.affiliation: Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
mesh_terms: D002531:Cerebellum / Q000473:pathology; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis / Q000628:therapy
keywords: atypical phenotype; axonal neuropathy; cerebellar atrophy; infantile neuroaxonal dystrophy; neonatal onset