Thiamine-responsive megaloblastic anaemia hypothyroidism, a puzzling association | [Journal of Ayub Medical College • 2023]

Author(s):

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

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

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

4. Zubair Khoso: National Institute of Child Health Karachi-,,Pakistan

5. Heeranand Rathore: National Institute of Child Health Karachi-,,Pakistan

Abstract:

Background: Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia 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. A 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 anaemia. 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 counselling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding.

Page(s): 804-806

DOI: 10.55519/JAMC-S4-12486

Published: Journal: Journal of Ayub Medical College, Volume: 35, Issue: 4(S), Year: 2023

Keywords:

Hearing loss , Diabetes mellitus , Diabetes mellitus , Hypothyroid , Optic Nerve , TRMA

References:

[1] Pichler H,Zeitlhofer P,Dworzak MN,Diakos C,Haas OA,Kager L .2012 .Thiamine-responsive megaloblastic anaemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. Eur J Pediatr, 171(11) : 1711-5.

[2] Mathews L,Narayanadas K,Sunil G .2009 .Thiamine responsive megaloblastic anaemia. Indian Pediatr, 46(2) : 172-4.

[3] Marcé‐Grau A,Martí‐Sánchez L,Baide‐Mairena H,OrtigozaEscobar JD,Pérez‐Dueñas B .2019 .Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics, and functional studies. J Inherit Metab Dis, 42(4) : 581-97.

[4] Shaw‐Smith C,Flanagan SE,Patch AM,Grulich‐Henn J,Habeb AM,Hussain K .2012 .Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamineresponsive megaloblastic anaemia. Pediatr Diabetes, 13(4) : 314-21.

[5] . .. , : 1993-2023.

[6] Karimzadeh P,Moosavian T,Moosavian H . .Recurrent stroke in a child with TRMA syndrome and SLC19A2 gene mutation. , : .

[7] .2018 .. Iran J Child Neurol, 12(1) : 84-8.

[8] .2023 .. Submitted: September, 14 : .

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