Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?

J Clin Res Pediatr Endocrinol. 2011;3(1):36-9. doi: 10.4274/jcrpe.v3i1.08. Epub 2011 Feb 23.


Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-month-old female infant diagnosed with TRMA syndrome at an early age. There was no hearing loss at the time of diagnosis. The patient's initial auditory evoked brainstem response measurements were normal. Although she was given thiamine supplementation regularly following the diagnosis, the patient developed moderate sensorineural hearing loss at 20 months of age, indicating that early diagnosis and treatment with oral thiamine (100 mg/day) could not prevent deafness in TRMA syndrome. It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis.

Keywords: Diabetes; Thiamine-responsive megaloblastic anaemia; deafness.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Megaloblastic / complications*
  • Anemia, Megaloblastic / drug therapy*
  • Diabetes Mellitus / drug therapy*
  • Female
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / drug therapy
  • Hearing Loss, Sensorineural / prevention & control*
  • Humans
  • Infant
  • Ketoglutarate Dehydrogenase Complex / deficiency
  • Thiamine / therapeutic use*
  • Thiamine Deficiency / congenital
  • Vitamin B Complex / therapeutic use*


  • Vitamin B Complex
  • Ketoglutarate Dehydrogenase Complex
  • Thiamine

Supplementary concepts

  • Thiamine responsive megaloblastic anemia syndrome