Cerebellar atrophy in a child with hereditary methemoglobinemia type II.
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.
Fusco
Carlo
C
Child Neurology Unit, Arcispedale Santa Maria Nuova, Viale Risorgimento 80, Reggio Emilia, Italy. fusco.carlo@asmn.re.it
Soncini
Giuliana
G
Frattini
Daniele
D
Della Giustina
Elvio
E
Vercellati
Cristina
C
Fermo
Elisa
E
Bianchi
Paola
P
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*