{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T05:58:33Z","timestamp":1773813513092,"version":"3.50.1"},"reference-count":18,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,5,24]]},"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6\u2009months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11\u2009months 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\u2009years. The genetic analysis confirmed the diagnosis of TRMA syndrome. Thus benfotiamine can be considered a new treatment option in management of TRMA syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2018-228806","type":"journal-article","created":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T05:06:47Z","timestamp":1561525607000},"page":"e228806","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Neonatal diabetes mellitus: remission induced by novel therapy"],"prefix":"10.1136","volume":"12","author":[{"given":"Pradip","family":"Dalwadi","sequence":"first","affiliation":[{"name":"Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ameya S","family":"Joshi","sequence":"additional","affiliation":[{"name":"Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darshana Sudip","family":"Thakur","sequence":"additional","affiliation":[{"name":"Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikhil M","family":"Bhagwat","sequence":"additional","affiliation":[{"name":"Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,6,25]]},"reference":[{"key":"2025082804060638000_12.6.e228806.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80031-4"},{"key":"2025082804060638000_12.6.e228806.2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI3895"},{"key":"2025082804060638000_12.6.e228806.3","doi-asserted-by":"publisher","DOI":"10.1038\/10372"},{"key":"2025082804060638000_12.6.e228806.4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.45.31925"},{"key":"2025082804060638000_12.6.e228806.5","doi-asserted-by":"publisher","DOI":"10.1076\/1381-6810(200012)21:4;1-H;FT243"},{"key":"2025082804060638000_12.6.e228806.6","unstructured":"Funk C . 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