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.
Kanchi Kamakoti CHILDS Trust Hospital, Nageswara road, Nungambakkam, Chennai, Tamilnadu, India. ganeped79@rediffmail.com
Ramaswamy
R
Ganesh
S
S
Ezhilarasi
Thiruvengadam
T
Vasanthi
Kalpana
K
Gowrishankar
Sarala
S
Rajajee
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