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.