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BMJ Case Rep. 2019 Jun 25;12(6). pii: e228806. doi: 10.1136/bcr-2018-228806.

Neonatal diabetes mellitus: remission induced by novel therapy.

Author information

1
Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, Maharashtra, India.

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.

KEYWORDS:

diabetes; endocrine system; haematology (incl blood transfusion); neonatal and paediatric intensive care; paediatrics (drugs and medicines)

PMID:
31243025
DOI:
10.1136/bcr-2018-228806

Conflict of interest statement

Competing interests: None declared.

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