2024 / 03

Next Paper
DOI: 10.24075/brsmu.2024.024
Copyright: © 2024 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

CLINICAL CASE

Thiamine responsive megaloblastic anemia (Rogers syndrome) in a three-year-old child

Konyukhova TV, Trukhina EV
About authors

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Correspondence should be addressed: Tatyana Vladimirovna Konyukhova
ul. Samory Mashela, 1, Moscow, 117997, ur.liam@avohunokt

About paper

Author contribution: Trukhina EV — data collection, compilation of the list of references; Konyukhova TV — development of the article's design, manuscript authoring.

Compliance with ethical standards: the study was approved by the local Ethics Committee of Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology.

Received: 2024-05-16 Accepted: 2024-06-02 Published online: 2024-06-24
|
  1. Sako S, Tsunogai T, Oishi K. Thiamine-responsive megaloblastic anemia syndrome. 2003 Oct 24 [updated 2022 Jul 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301459.
  2. Meire FM, Van Genderen MM, Lemmens K, Ens-Dokkum MH. Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. Ophthalmic Genet. 2000; 21 (4): 243– 50. PMID: 11135496.
  3. Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, et al. An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment. Ital J Pediatr. 2023; 49 (1): 158. DOI: 10.1186/ s13052-023-01553-1. PMID: 38037112; PMCID: PMC10691017.
  4. Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F. Thiamineresponsive megaloblastic anemia syndrome. Int J Hematol. 2010; 92 (3): 524–6. DOI: 10.1007/s12185-010-0681-y. Epub 2010 Sep 11. PMID: 20835854.
  5. Abboud MR, Alexander D, Najjar SS. Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. J Pediatr. 1985; 107 (4): 537–41. DOI: 10.1016/s0022-3476(85)80011-1. PMID: 4045602.
  6. Subramanian VS, Subramanya SB, Said HM. Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models. Am J Physiol Gastrointest Liver Physiol. 2012; 302 (5): G572-8. DOI: 10.1152/ajpgi.00484.2011. Epub 2011 Dec 22. PMID: 22194418; PMCID: PMC3311432.
  7. Lua H, Lub H, Vauchera J, Tra C, Vollenweider P, Castioni J. L’anémie mégaloblastique thiamine dépendante ou syndrome de Rogers: une revue de la littérature. Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review. La Revue de Médecine Interne. 2019; 40 (1): 20–27.
  8. Zhang S, Qiao Y, Wang Z, Zhuang J, Sun Y, Shang X, et al. Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamineresponsive megaloblastic anemia. Clin Chim Acta. 2021; 516: 157–68. DOI: 10.1016/j.cca.2021.01.025. Epub 2021 Feb 9. PMID: 33571483.
  9. Viana MB, Carvalho RI. Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome? J Pediatr. 1978; 93 (2): 235–8. DOI: 10.1016/s0022-3476(78)80503-4. PMID: 671156.
  10. Faraji-Goodarzi M, Tarhani F, Taee N. Dyserythropoiesis and myelodysplasia in thiamine-responsive megaloblastic anemia syndrome. Clin Case Rep. 2020; 8 (6): 991–4. DOI: 10.1002/ccr3.2791. PMID: 32577249; PMCID: PMC7303871.