TY - JOUR T1 - Neonatal diabetes mellitus: remission induced by novel therapy JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2018-228806 VL - 12 IS - 6 SP - e228806 AU - Pradip Dalwadi AU - Ameya S Joshi AU - Darshana Sudip Thakur AU - Nikhil M Bhagwat Y1 - 2019/06/01 UR - http://casereports.bmj.com/content/12/6/e228806.abstract N2 - A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6 months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11 months of age with diabetic ketoacidosis due to an intercurrent febrile illness. Her haematological parameters showed megaloblastic anaemia and thrombocytopenia. Therefore a possibility of Thiamine Responsive Megaloblastic Anaemia (TRMA) syndrome was considered. She was empirically treated with parenteral thiamine hydrochloride (Hcl). Subsequently, due to the unavailability of pharmacological preparation of oral thiamine Hcl in a recommended dose she was treated with benfotiamine. She had a sustained improvement in all her haematological parameters on oral benfotiamine. The insulin requirement progressively reduced and she is currently in remission for last 2 years. The genetic analysis confirmed the diagnosis of TRMA syndrome. Thus benfotiamine can be considered a new treatment option in management of TRMA syndrome. ER -