Abstract
Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.
MeSH terms
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Anemia, Megaloblastic / complications
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Anemia, Megaloblastic / diagnosis
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Anemia, Megaloblastic / drug therapy*
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Anemia, Megaloblastic / genetics
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Blood Glucose / metabolism
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Child, Preschool
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Diabetes Mellitus, Type 1 / complications
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Diabetes Mellitus, Type 1 / genetics
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Female
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Follow-Up Studies
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Hearing Loss, Sensorineural / complications
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Hearing Loss, Sensorineural / genetics
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Humans
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Syndrome
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Thiamine / therapeutic use*