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 language | English |
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Pages (from-to) | 357-360 |
Number of pages | 4 |
Journal | Brain and Development |
Volume | 33 |
Issue number | 4 |
DOIs | |
Publication status | Published - Apr 2011 |
Keywords
- Cerebellar atrophy
- Hereditary methemoglobinemia
- Movement disorders
ASJC Scopus subject areas
- Clinical Neurology
- Developmental Neuroscience
- Pediatrics, Perinatology, and Child Health