Cerebellar atrophy in a child with hereditary methemoglobinemia type II

Carlo Fusco, Giuliana Soncini, Daniele Frattini, Elvio Della Giustina, Cristina Vercellati, Elisa Fermo, Paola Bianchi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)357-360
Number of pages4
JournalBrain and Development
Volume33
Issue number4
DOIs
Publication statusPublished - Apr 2011

Keywords

  • Cerebellar atrophy
  • Hereditary methemoglobinemia
  • Movement disorders

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

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