title: Cerebellar atrophy in a child with hereditary methemoglobinemia type II.
abstract: We report the first case of a child with recessive hereditary methemoglobinemia type II with demonstrated cerebellar atrophy. This very rare blood disorder results in mild cyanosis, profound mental and motor impairment, and movement disorders in infancy and childhood. We suggest that children with unexplained severe encephalopathy and cerebellar atrophy should also be tested for hereditary methemoglobinemia type II.
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova, Viale Risorgimento 80, Reggio Emilia, Italy. fusco.carlo@asmn.re.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
authors.forename: Giuliana
authors.initials: G
authors.lastname: Soncini
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.forename: Elvio
authors.initials: E
authors.lastname: Della Giustina
authors.forename: Cristina
authors.initials: C
authors.lastname: Vercellati
authors.forename: Elisa
authors.initials: E
authors.lastname: Fermo
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
mesh_terms: D001284:Atrophy / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008708:Methemoglobinemia / Q000235:genetics*