Neonatal diabetes mellitus: remission induced by novel therapy

Abstract

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.

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

“…NDM is diagnosed only in infants, primarily in the first three months after delivery and treated either insulin or drugs, and varies based on the affected gene, whereas T1DM can develop in all individuals, starting from children to adults; T1DM is caused by the failure of the pancreas to produce insulin. The prevalence of NDM and T1DM varies ( Dalwadi et al., 2019 ). Earlier studies have confirmed that NDM occurs due to reduced birth weight for gestational age ( Aguilar-Bryan and Bryan, 2008 ), while in T1DM, there is no connection with gestational birth weight.…”