THIAMINE-RESPONSIVE MEGALOBLASTIC ANAEMIA WITH HYPOTHYROIDISM, A PUZZLING ASSOCIATION

Authors

  • Versha Rani Rai National Institute of Child Health Karachi- Pakistan
  • Mohsina Noor Ibrahim National Institute of Child Health Karachi- Pakistan
  • Muhammad Nasir Javed National Institute of Child Health Karachi- Pakistan
  • Zubair Khoso National Institute of Child Health Karachi- Pakistan
  • Heeranand Rathore National Institute of Child Health Karachi- Pakistan

DOI:

https://doi.org/10.55519/JAMC-S4-12486

Keywords:

TRMA, HYPOTHYROID, DIABETES MELLITUS, HEARING LOSS, OPTIC NERVE

Abstract

Background: Thiamine-responsive megaloblastic anemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke. In this specific case, a 5-year-old diagnosed with insulin-dependent diabetes mellitus (IDDM) since the age of one presented with symptoms such as polyuria, fever, and vomiting, revealing an HbA1c of 10.64. Further examinations disclosed compromised hearing and vision. Negative antibody workup and a thyroid profile indicating hypothyroidism prompted additional investigations, including Brainstem Evoked Response Audiometry (BERA) and retinal examination, confirming bilateral sensorineural hearing loss and maculopathy, respectively. A comprehensive blood count unveiled megaloblastic anemia. Genetic profiling confirmed a homozygous mutation in the SLC19A2 gene, thus diagnosing TRMA. An early diagnosis, coupled with genetic confirmation, enables timely intervention, with patients responding positively to high-dose thiamine. Genetic counseling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding.

Author Biographies

Versha Rani Rai, National Institute of Child Health Karachi- Pakistan

 

Mohsina Noor Ibrahim, National Institute of Child Health Karachi- Pakistan

 

Muhammad Nasir Javed, National Institute of Child Health Karachi- Pakistan

 

Zubair Khoso, National Institute of Child Health Karachi- Pakistan

 

Heeranand Rathore, National Institute of Child Health Karachi- Pakistan

 

References

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Additional Files

Published

2024-01-16

Issue

Vol. 35 No. 4 (Suppl 1) (2023): JOURNAL OF AYUB MEDICAL COLLEGE ABBOTTABAD

Section

CASE REPORT

License

Copyright (c) 2024 Versha Rani Rai, Mohsina Noor Ibrahim, Muhammad Nasir Javed, Zubair Khoso, Heeranand Rathore

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