Dalwadi Pradip, Joshi Ameya S, Thakur Darshana Sudip, Bhagwat Nikhil M
Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, Maharashtra, India.
BMJ Case Rep. 2019 Jun 25;12(6):e228806. doi: 10.1136/bcr-2018-228806.
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.
一名患有耳聋的女童在6个月大时，即人工耳蜗植入手术前的常规评估中被诊断为新生儿糖尿病。她在11个月大时因并发发热性疾病出现糖尿病酮症酸中毒。她的血液学参数显示为巨幼细胞贫血和血小板减少。因此，考虑到硫胺素反应性巨幼细胞贫血（TRMA）综合征的可能性。她接受了经验性的胃肠外盐酸硫胺素治疗。随后，由于无法获得推荐剂量的口服盐酸硫胺素药物制剂，她改用了苯磷硫胺进行治疗。口服苯磷硫胺后，她所有的血液学参数都持续改善。胰岛素需求量逐渐减少，她目前已缓解了两年。基因分析证实了TRMA综合征的诊断。因此，苯磷硫胺可被视为TRMA综合征治疗的一种新选择。
