Thiamine Responsive Megaloblastic Anemia

被引:0
|
作者
Mathews, Lulu [1 ]
Narayanadas, K. [1 ]
Sunil, G. [1 ]
机构
[1] Coll Med, Dept Pediat, Inst Maternal & Child Hlth, Calicut, Kerala, India
关键词
Megaloblastic anemia; Rogers syndrome; Thiamine; GENE; SLC19A2;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our patient.
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页码:172 / 174
页数:3
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