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Thiamine responsive megaloblastic anemia syndrome
Ramaswamy Ganesh1, S Ezhilarasi, Thiruvengadam Vasanthi
1Kanchi Kamakoti CHILDS Trust Hospital, Nageswara road, Nungambakkam, Chennai, Tamilnadu, India. ganeped79@rediffmail.com
Indian Journal of Pediatrics
|April 7, 2009
Summary
Thiamine responsive megaloblastic anemia syndrome (TRMA) is a rare condition. Early thiamine treatment can significantly improve anemia in affected children.
Area of Science:
- Pediatrics
- Genetics
- Hematology
Background:
- Thiamine responsive megaloblastic anemia syndrome (TRMA) is a rare genetic disorder.
- TRMA presents as a triad of anemia, diabetes mellitus, and sensorineural deafness.
Observation:
- A 4-year-old girl diagnosed with TRMA was studied.
- The patient exhibited symptoms consistent with the TRMA triad.
Findings:
- The patient's anemia showed significant improvement after thiamine administration.
- This highlights the critical role of thiamine in managing TRMA-related anemia.
Implications:
- Early diagnosis and prompt thiamine treatment are crucial for children with TRMA.
- This case underscores the importance of recognizing TRMA for effective intervention and improved patient outcomes.
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