ArticleEuropean journal of pediatrics2004
Severe neurological impairment in hereditary methaemoglobinaemia type 2.
Article in European journal of pediatrics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Recessive congenital methemoglobinemia: a systematic review of reported cases.Orphanet journal of rare diseases · 2026Pooled it
- Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.Molecular syndromology · 2023Article
- Neurological and Neuroimaging Features ofBrain sciences · 2022Article
- Congenital methemoglobinemia: Rare presentation of cyanosis in newborns.Clinics and practice · 2019Article
- Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.The neuroradiology journal · 2019Article
- Congenital methemoglobinemia type II in a 5-year-old boy.Clinical case reports · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledRecessive 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.
conclusionDue 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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Registered trials
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