THIAMINE-RESPONSIVE MEGALOBLASTIC ANAEMIA WITH HYPOTHYROIDISM, A PUZZLING ASSOCIATION
DOI:
https://doi.org/10.55519/JAMC-S4-12486Keywords:
TRMA, HYPOTHYROID, DIABETES MELLITUS, HEARING LOSS, OPTIC NERVEAbstract
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.References
: Pichler H, Zeitlhofer P, Dworzak MN, Diakos C, Haas OA, Kager L. Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. European journal of pediatrics. 2012 Nov;171:1711-5.
: Mathews L, Narayanadas K, Sunil G. Thiamine responsive megaloblastic anemia. Indian pediatrics. 2009 Feb 1;46(2).
: Marcé‐Grau A, Martí‐Sánchez L, Baide‐Mairena H, Ortigoza‐Escobar JD, Pérez‐Dueñas B. Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics, and functional studies. Journal of inherited metabolic disease. 2019 Jul;42(4):581-97.
: Shaw‐Smith C, Flanagan SE, Patch AM, Grulich‐Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, Ellard S. Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine‐responsive megaloblastic anaemia. Pediatric diabetes. 2012 Jun;13(4):314-21.
: Sako S, Tsunogai T, Oishi K. Thiamine-responsive megaloblastic anemia syndrome.
: Karimzadeh P, Moosavian T, Moosavian H. Recurrent stroke in a child with TRMA syndrome and SLC19A2 gene mutation. Iranian Journal of Child Neurology. 2018;12(1):84.
Kang P, Zhang W, Wen J, Zhang J, Li F, Sun W. Case report: genetic and clinical features of maternal uniparental isodisomy-induced thiamine-responsive megaloblastic anemia syndrome. Frontiers in Pediatrics. 2021 Mar 19;9:630329.
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Versha Rani Rai, Mohsina Noor Ibrahim, Muhammad Nasir Javed, Zubair Khoso, Heeranand Rathore
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.