Donohue syndrome in an Egyptian infant: a case report

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2022-12-28 DOI:10.1515/crpm-2021-0087

Kotb Abbass Metwalley, H. Farghaly, Lamiaa Mahmood Maxi

引用次数: 0

Abstract

Abstract Objectives We aim to report a case of Donohue syndrome (DS) which is a rare genetically encoded, autosomal inherited recessive disorder linked with severe insulin-resistant diabetes. Case presentation We hereby report a case of a 4 month -old girl infant with DS. The patient exhibited dysmorphic facial features, severe growth retardation, fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia which are the hallmarks of DS. The diagnosis of DS was confirmed by genetic analysis. The patient was treated with high-dose insulin and frequent nasogastric formula milk feeding to achieve reasonable glycemic control. Conclusions We reported a typical case of DS in a 4-month-old female infant characterized by peculiar dysmorphic features and failure to thrive. She also fulfilled the biochemical criteria of fasting hypoglycemia, postprandial hyperglycemia, and severe hyperinsulinemia. The diagnosis was confirmed by a molecular genetic study. Our patient achieved reasonable glycemic control after treatment with high-dose insulin.

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埃及婴儿Donohue综合征1例报告

摘要目的报告1例Donohue综合征(DS)，这是一种罕见的遗传编码常染色体遗传隐性疾病，与严重的胰岛素抵抗性糖尿病相关。我们在此报告一例4个月大的女婴DS。患者表现为面部畸形、严重生长迟缓、空腹低血糖、餐后高血糖和高胰岛素血症，这些都是退行性痴呆的特征。遗传分析证实了DS的诊断。患者给予大剂量胰岛素和频繁鼻胃配方奶喂养，以达到合理的血糖控制。结论我们报告了一例典型的4个月大的女婴退行性椎体滑移，其特征是特殊的畸形特征和未能茁壮成长。符合空腹低血糖、餐后高血糖、重度高胰岛素血症的生化标准。分子遗传学研究证实了这一诊断。本例患者经大剂量胰岛素治疗后血糖得到合理控制。

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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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.

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