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Severe neurological impairment in hereditary methaemoglobinaemia type 2


Toelle, Sandra P; Boltshauser, Eugen; et al (2004). Severe neurological impairment in hereditary methaemoglobinaemia type 2. European Journal of Pediatrics, 163(4-5):207-209.

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

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:National licences > 142-005
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:1 April 2004
Deposited On:19 Oct 2018 12:11
Last Modified:24 Nov 2018 03:09
Publisher:Springer
ISSN:0340-6199
OA Status:Green
Publisher DOI:https://doi.org/10.1007/s00431-004-1409-x
Related URLs:https://www.swissbib.ch/Search/Results?lookfor=nationallicencespringer101007s004310041409x (Library Catalogue)

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