Thiamine responsive megaloblastic anemia syndrome.

Ganesh, Ramaswamy; Ezhilarasi, S; Vasanthi, Thiruvengadam; Gowrishankar, Kalpana; Rajajee, Sarala

Ganesh, Ramaswamy; Ezhilarasi, S; Vasanthi, Thiruvengadam; Gowrishankar, Kalpana; Rajajee, Sarala.

Indian J Pediatr ; 2009 Mar; 76(3): 313-4

Article in English | IMSEAR | ID: sea-79863

ABSTRACT

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.

Subject(s)

Anemia, Megaloblastic/complications; Anemia, Megaloblastic/diagnosis; Anemia, Megaloblastic/drug therapy; Anemia, Megaloblastic/genetics; Blood Glucose/metabolism; Child, Preschool; Diabetes Mellitus, Type 1/complications; Diabetes Mellitus, Type 1/genetics; Female; Follow-Up Studies; Hearing Loss, Sensorineural/complications; Hearing Loss, Sensorineural/genetics; Humans; Syndrome; Thiamine/therapeutic use

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Syndrome / Thiamine / Blood Glucose / Female / Humans / Child, Preschool / Follow-Up Studies / Diabetes Mellitus, Type 1 / Hearing Loss, Sensorineural / Anemia, Megaloblastic Type of study: Observational study / Prognostic study / Screening study Language: English Journal: Indian J Pediatr Year: 2009 Type: Article

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