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CASE REPORT
Year : 2012  |  Volume : 16  |  Issue : 4  |  Page : 646-650

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent


1 Department of Endocrinology, Sher I Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India
2 Department of Cardiovascular Thoracic Surgery, Sher I Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India
3 Department of Neurology, Sher I Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India
4 Department of Endocrinology and Radio Diagnosis, Sher I Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India
5 Department of Clinical Biochemistry, Sher I Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India

Correspondence Address:
Mohd Ashraf Ganie
Department of Endocrinology, Sher i Kashmir Institute of Medical Sciences, Soura, Srinagar, Post Box 930 GPO Srinagar, J and K
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2230-8210.98033

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Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein. The disorder is rare and has not been reported from our community which has high background of consanguinity. We report a six years old girl who presented with diabetes mellitus which remitted after thiamine replacement. The girl in addition had sensorineural deafness, reinopathy, atrial septal defect and megaloblastic anemia which responded to high doses of thymine. This is the first case reported from Kashmir valley and third from India. The presentation and management in such cases is discussed.


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