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01-04-2004 | Original Paper

Severe neurological impairment in hereditary methaemoglobinaemia type 2

Authors: Sandra P. Toelle, Eugen Boltshauser, Ekkehard Mössner, Karin Zurbriggen, Stefan Eber

Published in: European Journal of Pediatrics | Issue 4-5/2004

Abstract

Recessive congenital methaemoglobinaemia (RCM) due to NADH-cytochrome b5 reductase (cytb5r) deficiency is a very rare disorder. We report on two unrelated patients (4 and 2.5 years old) with RCM type 2. Developmental delay was obvious at the age of 4 months. On follow-up, both children showed severe tetraspastic cerebral palsy, profound cognitive impairment, strabismus, impressive secondary microcephaly and failure to thrive. One novel mutation in the DIA1gene was identified. Prenatal diagnosis was successfully done in both families by mutation analysis in chorionic villi or measurement of cytb5r in fetal amniotic cells. Conclusion:due to the severity of this disease and its 25% recurrence risk, prenatal diagnosis should be made available to all affected families.

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Title: Severe neurological impairment in hereditary methaemoglobinaemia type 2
Authors: Sandra P. Toelle
Eugen Boltshauser
Ekkehard Mössner
Karin Zurbriggen
Stefan Eber
Publication date: 01-04-2004
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 4-5/2004
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-004-1409-x

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Springer Medicine

Severe neurological impairment in hereditary methaemoglobinaemia type 2

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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