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Experimental and Clinical Endocrinology & Diabetes Reports 2015; 02(01): e8-e10
DOI: 10.1055/s-0035-1549874
Case Report
© Georg Thieme Verlag KG Stuttgart · New York

A Thiamine Responsive Megaloblastic Anemia Presented with Hypertriglyceridemia and Auto-immune Diabetes

One Sentence Summary: Thiamine therapy might be an alternative in patients presenting with diabetes and anemia.
Y. Yılmaz
1   Department of Pediatrics, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey
,
B. K. Aydın
2   Department of Pediatrics, Division of Growth-Development, Pediatric Endocrinology and Diabetes, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey
,
F. Baş
2   Department of Pediatrics, Division of Growth-Development, Pediatric Endocrinology and Diabetes, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey
,
A. Ünüvar
3   Department of Pediatrics, Division of Hematology and Oncology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey
,
Z. Karakaş
3   Department of Pediatrics, Division of Hematology and Oncology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey
,
Ş. Poyrazoğlu
2   Department of Pediatrics, Division of Growth-Development, Pediatric Endocrinology and Diabetes, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey
,
R. Bundak
2   Department of Pediatrics, Division of Growth-Development, Pediatric Endocrinology and Diabetes, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey
,
F. Darendeliler
2   Department of Pediatrics, Division of Growth-Development, Pediatric Endocrinology and Diabetes, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey
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Publikationsverlauf

received 20. November 2014
first decision 15. März 2015

accepted 08. April 2015

Publikationsdatum:
15. Februar 2017 (online)

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Abstract

Background: Thiamine responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by non type 1 diabetes mellitus (DM), sensorineural hearing loss and megaloblastic anemia and caused by mutations in SLC19A2 gene, encoding a thiamine transporter protein.

Case: A 3-month-old male infant presented with megaloblastic anemia, DM, patent ductus arteriosus and hypertriglyceridemia. His autoimmune markers for DM were positive but with the additional finding of sensorineural deafness he was diagnosed with TRMA and thiamine therapy was started. His anemia was improved and insulin needs decreased and his genetic studies revealed a homozygous frameshift mutation, c.641del within coding region of SLC19A2 gene.

Conclusion: Clinical presentation of TRMA could be highly variable and some co-existence could perplex physicians, but this diagnosis should be considered in all patients with DM and anemia and further assessment should be done.

Key words

thiamine responsive megaloblastic anemia - diabetes mellitus - hypertriglyceridemia
 

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