RARE CASE WITH MEGALOBLASTIC ANAEMIA

Authors

  • Munnaza Saleem
  • Syed Sajid Hussain Shah
  • Tahir Mehmood

Abstract

A nine years old boy presented with history of pallor and anaemia since early infancy along with neural hearing loss responding to empirical multivitamin and folic acid therapy started on basis of blood complete picture showing anaemia and megaloblastic anaemia. On investigation he was diagnosed with Thiamine Responsive Megaloblastic Anaemia, a very rare condition in our settings.

Keywords: Megaloblastic Anaemia, Thiamine Responsive Megaloblastic Anaemia, Thiamine, Sensorineural Hearing Loss

References

Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F. Thiamine responsive megaloblastic anemia syndrome. Int J Hematol 2010;92(3):524-6.

Onal H, BariÅŸ S, Ozdil M, YeÅŸil G, Altun G, Ozyilmaz I, et al. Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness. Turk J Pediatr 2009;51(3):301-4.

Akinci A, Teziç T, Ertürk G, Tarim O, Dalva K. Thiamine responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. Acta Paediatr 1993;35:262-6.

Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999;22(3):300-4.

Ozdemir MA, Akcakus M, Kurtoglu S, Gunes T, Torun YA, et al. TRMA syndrome (thiamine responsive megaloblastic anemia): a case report and review of the literature. Pediatr Diabetes. 2002;3:205-9.

Porter JR, Barrett TG. Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management. Arch Dis Child 2004;89:1138-44.

Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380(6570):152-4.

Akın L, Kurtoğlu S, Kendirci M, Akın MA, Karakükçü M. Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome? J Clin Res Pediatr Endocrinol 2011;3(1):36-9.

Lorber A, Gazit AZ, Khoury A, Schwartz Y, Mandel H. Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. Pediatr Cardiol 2003;24(5):476-81.

Rindi G, Patrini C, Laforenza U, Mandel H, Berant M, Viana MB, et al. Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin- responsive megaloblastic anaemia. J Inherit Metab Dis 1994;17:667-7.

Sirugo G, Keats B, Fujita R, Duclos F, Purohit K, Koenig M, et al. Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet 1992;50:559-66.

Schwingshandl J, Borkenstein M. Treatment of DIDMOAD syndrome with thiamine. J Pediatr 1989;115(5 Pt 1):834.

Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991;325:1831-6.

Viana MB, Carvalho RI. Thiamine-responsive Megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome? J Pediatr 1978;93:235-8.

Published

2014-03-01

How to Cite

Saleem, M., Shah, S. S. H., & Mehmood, T. (2014). RARE CASE WITH MEGALOBLASTIC ANAEMIA. Journal of Ayub Medical College Abbottabad, 26(1), 104–105. Retrieved from https://jamc.ayubmed.edu.pk/jamc/index.php/jamc/article/view/1647

Most read articles by the same author(s)