Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

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Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-09-16 Print Date: 2022-11-25 DOI:10.1515/jpem-2022-0214

Sommayya Aftab, Tahir Shaheen, Rameen Asif, Muhammad Nadeem Anjum, Anjum Saeed, Jaida Manzoor, Huma Arshad Cheema

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Abstract

Objectives: Rabson Mendenhall syndrome (RMS) is a rare form of insulin resistance syndrome caused by insulin receptor mutation. In term of severity, it lies at an intermediate point on spectrum of insulin resistance with Donohue syndrome flanking the severe and Type A insulin resistance at the mild end. We are reporting a 3.5-month-old boy with RMS along with its management challenges in a resource limited country.

Case presentation: An infant presented at 3.5-month of an age with failure to thrive and fluctuating blood glucose level (hyperglycaemia and hypoglycaemia) along with clinical features of insulin resistance. He was found to have raised HbA1C, high insulin and C peptide level and a homozygous mutation in INSR gene c.1049C>T, (p.Ser350 Leu) confirming the diagnosis of RMS. He was managed with long-acting insulin (Detemir) along with frequent feeding.

Conclusions: RMS in resource limited countries could be managed with frequent feeding along with insulin. Early diagnosis and management can improve long term outcome.

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一个资源有限的国家对拉布森-门登霍尔综合征的管理挑战:一个病例报告。

目的:Rabson Mendenhall综合征(RMS)是一种罕见的由胰岛素受体突变引起的胰岛素抵抗综合征。就严重程度而言，它在胰岛素抵抗谱上处于中间点，Donohue综合征位于严重端，A型胰岛素抵抗位于轻度端。在一个资源有限的国家，我们报告了一个3.5个月大的男婴患有RMS及其管理挑战。病例介绍:一名婴儿在3.5个月大时出现发育不良和血糖水平波动(高血糖和低血糖)，并伴有胰岛素抵抗的临床特征。患者HbA1C升高，胰岛素和C肽水平升高，INSR基因C . 1049c >T纯合突变(p.Ser350 Leu)，证实了RMS的诊断。患者给予长效胰岛素(地替米特)治疗，并给予频繁喂养。结论:在资源有限的国家，可以通过频繁喂养和胰岛素治疗来控制RMS。早期诊断和治疗可以改善长期预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of pediatric endocrinology & metabolism : JPEM

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