[Thiamine-dependent anemia and thrombocytopenia, insulin-dependent diabetes mellitus and sensorineural deafness--case report and review].
Report of an 3 1/2 year old girl who because of resistant anemia and thrombocytopenia received blood transfusions since her third month of life. 15 months later she developed diabetes mellitus. Sensorineural deafness was noticed since her third year of life. Daily 25 mg thiamine prevented anemia and thrombocytopenia. The syndrome is compared with the 5 published cases of world literature.
D000740:Anemia / Q000151:congenital* / Q000188:drug therapy; D001803:Blood Transfusion; D002675:Child, Preschool; D003131:Combined Modality Therapy; D003638:Deafness / Q000151:congenital*; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital*; D005260:Female; D006801:Humans; D013831:Thiamine / Q000627:therapeutic use; D013832:Thiamine Deficiency / Q000151:congenital* / Q000188:drug therapy; D013921:Thrombocytopenia / Q000151:congenital* / Q000188:drug therapy
D013831:Thiamine
Thiaminabhängige Anämie und Thrombozytopenie, insulinpflichtiger Diabetes mellitus und sensorineurale Schwerhörigkeit--Fallbeschreibung und Ubersicht.