Volume 16, Issue 5 (1-2009)
JSSU 2009, 16(5): 66-71 |
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Hashemi A, Jafari A, Kheirandish M, Dehghani K, Nourani F, Motavaselian F. Thiamine– Responsive Megaloblastic Anemia Syndrome . JSSU 2009; 16 (5) :66-71
URL: http://jssu.ssu.ac.ir/article-1-694-en.html
URL: http://jssu.ssu.ac.ir/article-1-694-en.html
Abstract: (9779 Views)
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA) and deafness (D). Neutropenia and thrombocytopenia are also present.
We report a 7 month old girl with congenital macrocytic anemia a rare clinical feature of Wolfram,s syndrome with increased plasma levels of blood glucose, both of which dramatically responded to administration of thiamine in large doses .
The patient also had neurosensorial deafness, but no improvement was observed in the deafness. We presented the case because thiamine-responsive megaloblastic anemia is a rare clinical presentation of Wolfram syndrome and after institution of treatment with thiamine, the anemia and hyperglycemia returned to normal.
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