Thiamine responsive megaloblastic anemia syndrome

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...

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Veröffentlicht in:	Indian journal of pediatrics 2009-03, Vol.76 (3), p.313-314
Hauptverfasser:	Ganesh, Ramaswamy, Ezhilarasi, S., Vasanthi, Thiruvengadam, Gowrishankar, Kalpana, Rajajee, Sarala
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia, Megaloblastic - complications Anemia, Megaloblastic - diagnosis Anemia, Megaloblastic - drug therapy Anemia, Megaloblastic - genetics Biological and medical sciences Blood Glucose - metabolism Child, Preschool Clinical Brief Diabetes Mellitus, Type 1 - complications Diabetes Mellitus, Type 1 - genetics Diabetes. Impaired glucose tolerance Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Follow-Up Studies General aspects Gynecology Hearing Loss, Sensorineural - complications Hearing Loss, Sensorineural - genetics Humans Medical sciences Medicine Medicine & Public Health Non tumoral diseases Otorhinolaryngology. Stomatology Pediatrics Syndrome Thiamine - therapeutic use
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Zusammenfassung:	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.
ISSN:	0019-5456 0973-7693
DOI:	10.1007/s12098-009-0058-5