Thiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our patient.
Mathews
Lulu
L
Institute of Maternal and Child Health, Medical College, Calicut, India. lulumathews@gmail.com
Narayanadas
K
K
Sunil
G
G
D000749:Anemia, Megaloblastic / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D015897:Comorbidity; D003920:Diabetes Mellitus / Q000453:epidemiology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000453:epidemiology; D013831:Thiamine / Q000008:administration & dosage / Q000627:therapeutic use*; D014803:Vitamin B Complex / Q000008:administration & dosage / Q000627:therapeutic use*
D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D014803:Vitamin B Complex; D013831:Thiamine