Rare case with megaloblastic anaemia

J Ayub Med Coll Abbottabad. 2014 Jan-Mar;26(1):104-5.

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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Megaloblastic / diagnosis*
  • Child
  • Diabetes Mellitus / diagnosis*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / drug therapy*
  • Humans
  • Ketoglutarate Dehydrogenase Complex / deficiency*
  • Ketoglutarate Dehydrogenase Complex / drug effects
  • Male
  • Thiamine / administration & dosage
  • Thiamine Deficiency / congenital

Substances

  • Ketoglutarate Dehydrogenase Complex
  • Thiamine

Supplementary concepts

  • Thiamine responsive megaloblastic anemia syndrome