title: Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent.
abstract: 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.
authors: Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India.
authors: Mohd Ashraf
authors: MA
authors: Ganie
authors: Imran
authors: I
authors: Ali
authors: A G
authors: AG
authors: Ahangar
authors: Mohd Maqbool
authors: MM
authors: Wani
authors: Sanjeed
authors: S
authors: Ahmed
authors: Manzoor Ahmed
authors: MA
authors: Bhat
authors: Sulaiman
authors: S
authors: Seth
authors: Syed
authors: S
authors: Mudasir