ArticleThe neuroradiology journal2019
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.
Article in The neuroradiology journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Recessive congenital methemoglobinemia: a systematic review of reported cases.Orphanet journal of rare diseases · 2026Pooled it
- Cytochrome bBiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2026Article
- UFMylation: A Potential Modification for Neurological Diseases.Current neuropharmacology · 2025Review
- Dyskinetic Movement Disorder in Congenital Methemoglobinemia Type II.Movement disorders clinical practice · 2024Article
- Familial Psychomotor Delay of an Uncommon Cause: Type II Congenital Methemoglobinemia.Clinical medicine insights. Pediatrics · 2024Article
- Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.Molecular syndromology · 2023Article
- Recommendations for diagnosis and treatment of methemoglobinemia.American journal of hematology · 2021Review
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1 author at 1 institution in 1 country.
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Abstract
Recessive congenital methemoglobinemia type II is a very rare autosomal recessive hematologic disorder due to NADH-cytochrome b5 reductase deficiency, usually caused by full-stop mutations or deletions. This disease classically presents with mild neonatal cyanosis, early onset severe progressive developmental delay, movement disorders, and progressive microcephaly. We report two siblings with recessive congenital methemoglobinemia type II whose evaluation revealed a novel p.Arg92Trp missense mutation of the CYB5R3 gene and a peculiar imaging finding of basal ganglia hypoplasia. Brain magnetic resonance imaging was performed at age 10 months in the older sibling and at age three months in the younger sibling. It revealed similar findings of bilateral small size of the lentiform and caudate nuclei and reduced frontotemporal brain volume. Our patient cases highlight that basal ganglia hypoplasia is an interesting clue to the very rare and frequently unsuspected diagnosis of recessive congenital methemoglobinemia type II, that may explain the associated movement disorders. The novel missense mutation is one of very few identified missense mutations known to cause severe type II recessive congenital methemoglobinemia.
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