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 early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.
Ganesh
Ramaswamy
R
Kanchi Kamakoti CHILDS Trust Hospital, Nageswara road, Nungambakkam, Chennai, Tamilnadu, India. ganeped79@rediffmail.com
Ezhilarasi
S
S
Vasanthi
Thiruvengadam
T
Gowrishankar
Kalpana
K
Rajajee
Sarala
S
D000749:Anemia, Megaloblastic / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics; D006801:Humans; D013577:Syndrome; D013831:Thiamine / Q000627:therapeutic use*
D001786:Blood Glucose; D013831:Thiamine