1887
Volume 2008, Issue 2
  • ISSN: 0253-8253
  • E-ISSN: 2227-0426

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder including megaloblastic anemia, thrombocytopaenia, diabetes mellitus and progressive sensorineural deafness. We report cases of two infants, aged respectively four and five months, hospitalized for diabetic-acido-ketosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine-levels. Neurosensorial investigations showed bilateral deafness and ophthalmic involvements. Treatment with oral thiamine normalized hematological parameters and ameliorated diabetes.

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2008-12-01
2019-08-23
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References

  1. 1. Labay   V., , Raz   T., , Baron   D. . Mutations in SLC19A2 cause thiamineresponsive megaloblastic anemia associated with diabetes mellitus and deafness. . Nat Genet . 1999; ;22: : 300– 304 .
    [Google Scholar]
  2. 2. Davidson   A., , Hartley   RS., , Berman   P., , Shullflewonth   MHG. . Megaloblastic anemia, in a 2-year-old child. . S Afr J . 2005; ;95: : 624 .
    [Google Scholar]
  3. 3. Neufeld   EJ., , Mandel   H., , Raz   T. . Localization of the gene for thiamine-responsive megaloblastic anemia syndrome on the long arm of chromosome 1, by homozygosity mapping. . Am J Hum Genet . 1997; ;87: : 1335– 1341 .
    [Google Scholar]
  4. 4. Neufeld   EJ., , Fleming   JC., , Tartaglini   E., , Steinkamp   MP. . Thiamine-Responsive Megaloblastic Anemia Syndrome: A disorder of High-Affinity Thiamine Transport. . Blood Cells Mol Dis . 2001; ;27: : 135– 138 .
    [Google Scholar]
  5. 5. Bappal   B., , Nair   R., , Shaikh   H., , Alkhusaiby   S., , Silva   V. . Five Years Follow-up of Diabetes Mellitus in Two Siblings with Thiamine Responsive Megaloblastic Anemia. . Indian Pediatrics . 2001; ;38: : 1295– 1298 .
    [Google Scholar]
  6. 6. Bazarbachi   A., , Muakkit   S., , Ayas   M. . Thiamine-responsive myelodysplasia. . Br J Haematol . 1998; ;102: : 1098– 1100 .
    [Google Scholar]
  7. 7.   Analysis of sic 19a2, on lq23.3 encoding a thiamine transporter as a candidate gene for Type 2 diabetes mellitus in pima Indians. . Mol Genet Metab . 2001; ;72: : 360– 363 .
    [Google Scholar]
  8. 8. Rindi   G., , Laforenza   U. . Thiamine Intestinal Transport and Related Issues: Recent Aspects. . Proc Soc Exp Biol Med . 2000; ;224: : 246– 255 .
    [Google Scholar]
  9. 9. Lagarde   WH., , Underwood   LE., , Moats-Staats   BM., , Calikoglu   AS. . Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. . Am J Med Genet A . 2004; ;125: : 299– 305 .
    [Google Scholar]
  10. 10. Valeria   V., , Angela   R., , Di Sallee   F., , Ciro   I., , Vincenzo   P., , Brunella   C. . Acute ischemic stroke in a young women with the thiamineresponsive megaloblastic anemia syndrome fibroblasts. . J Clin Invest . 1999; ;103: : 723– 729 .
    [Google Scholar]
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  • Article Type: Case Report
Keyword(s): Deafness , Diabetes Mellitus , Megaloblastic Anemia and Thiamine
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