A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.
A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.
Naeem
M A
MA
Combined Military Hospital Abbottabad, Pakistan. bugsgallian@yahoo.com
Shabaz
A
A
Shoaib
A
A
Usman
M
M
D000749:Anemia, Megaloblastic / Q000175:diagnosis / Q000188:drug therapy*; D003920:Diabetes Mellitus / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D013831:Thiamine / Q000627:therapeutic use*
D013831:Thiamine