Thiamine-Dependent Beriberi in the “Thiamine-Responsive Anemia Syndrome”

Thiamine Dependent Anemia in Didmoad (Wolfram) Syndrome: Further Studies and Report of Two Additional Cases

“…A less frequently encountered triad of thiamine-responsive sideroblastic anemia, diabetes mellitus and sensorineural deafness was first recognized by Roger et al [3] in 1969, but Borgna-Pignatti et al [12] has recently suggested that the triad could be part of the wider spectrum of DIDMOAD syndrome, with both conditions resulting from a defect of thiamine metabolism. In our patients, the peripheral blood and bone marrow findings strikingly corresponded to thiamine-responsive anemia described in association with diabetes mellitus and sensorineural deafness [3][4][5][6][7][8][9][10][11][12]. A good response to therapy with thiamine, and in particular, the significant increase of hemoglobin level with brisk reticulocytosis confirms this diagnosis.…”

“…These enzymes use thiamine as a cofactor in carbohydrate metabolism. Blood transketolase activity was normal in the patients reported by Mandel et al [6] and by Rosskamp [11]. In contrast however, Borgna-Pignatti et al [12] and Poggi et al [9] found a reduced level of thiamine as well as of thiamine pyrophosphokinase, an enzyme that phosphorylates thiamine to its metabolically active form, thiamine pyrophosphate.…”

“…The akined but less common triad of thiamine responsive anemia, diabetes mellitus, and sensorineural deafness has been described so far in only 14 patients [3][4][5][6][7][8][9][10][11][12]. We describe two additional patients (sister and brother) both of whom presented with thiamine responsive anemia, diabetes mellitus, and sensorineural deafness.…”

“…Thereafter, in 1938, Wolfram [2] described a family of eight siblings, four of whom had DM and OA; three of the four affected siblings subsequently developed neurosensory hearing losses; and later, two developed neurogenic bladders. Since then, over 100 cases of this syndrome have been described in the literature and analysis of multiple pedigrees revealed an autosomal recessive mode of inheritance [1,2].The akined but less common triad of thiamine responsive anemia, diabetes mellitus, and sensorineural deafness has been described so far in only 14 patients [3][4][5][6][7][8][9][10][11][12]. We describe two additional patients (sister and brother) both of whom presented with thiamine responsive anemia, diabetes mellitus, and sensorineural deafness.…”

Thiamine Responsive Megaloblastic Anemia in Two Female Siblings

“…14 Further reports on TRMA described congenital heart disease, arrhythmias, abnormalities of the retina and optic nerve, aminoaciduria, situs inversus, and stroke-like episodes in addition to the characteristic triad. [15][16][17][18][19][20] Thiamine in pharmacologic doses usually ameliorates the anemia and diabetes initially, but it has become ineffective in adulthood. …”