Erschienen in:
01.06.2016 | Letter to the Editor
Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia
verfasst von:
Ayse Aysima Ozcelik, Peren Perk, Alper Dai
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 2/2016
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Excerpt
In methemoglobinemia, patients have higher metHb than the healthy population. It could be congenital, resulting from deficiency of enzymes which convert metHb back to Hb, or acquired as a result of various chemical agents. Two clinical types of recessive hereditary methemoglobinemia have been described. Type I is a benign form in which cyanosis is the sole clinical symptom. In type II, cyanosis is associated with severe progressive neurological disabilities, including mental retardation, microcephaly, and movement disorders [
1]. …