THIAMINE– RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

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HASHEMI A.A.S.; JAFARI A.A.H.; KHEYR ANDISH MARYAM; DEHGHANI KH.; NOURANI F.A.S.; MOTEVASELIAN F.

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Journal Paper

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Journal: Journal of Shahid Sadoughi University of Medical Sciences Year:2009 | Volume:16 | Issue:5 (68) Page(s): 66-71

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Title

THIAMINE– RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

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Keywords

THIAMINEQ3

RESPONSIVE MEGALOBLASTIC ANEMIAQ3

WOLFRAM SYNDROMEQ3

DIDMOADQ3

Abstract

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 dosesThe 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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APA: Copy

HASHEMI, A.A.S., JAFARI, A.A.H., KHEYR ANDISH, MARYAM, DEHGHANI, KH., NOURANI, F.A.S., & MOTEVASELIAN, F.. (2009). THIAMINE– RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, 16(5 (68)), 66-71. SID. https://sid.ir/paper/35694/en

Vancouver: Copy

HASHEMI A.A.S., JAFARI A.A.H., KHEYR ANDISH MARYAM, DEHGHANI KH., NOURANI F.A.S., MOTEVASELIAN F.. THIAMINE– RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2009;16(5 (68)):66-71. Available from: https://sid.ir/paper/35694/en

IEEE: Copy

A.A.S. HASHEMI, A.A.H. JAFARI, MARYAM KHEYR ANDISH, KH. DEHGHANI, F.A.S. NOURANI, and F. MOTEVASELIAN, “THIAMINE– RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME,” JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, vol. 16, no. 5 (68), pp. 66–71, 2009, [Online]. Available: https://sid.ir/paper/35694/en

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