{"title":"两个婴儿兄弟姐妹家庭中的 X 连锁肌管肌病:病例报告与综述","authors":"Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora","doi":"10.1016/j.pedneo.2024.02.009","DOIUrl":null,"url":null,"abstract":"<div><div>X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the <em>MTM1</em> gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period.</div></div>","PeriodicalId":56095,"journal":{"name":"Pediatrics and Neonatology","volume":"65 6","pages":"Pages 527-531"},"PeriodicalIF":2.3000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"X-linked myotubular myopathy in a family of two infant siblings: A case report and review\",\"authors\":\"Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora\",\"doi\":\"10.1016/j.pedneo.2024.02.009\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the <em>MTM1</em> gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period.</div></div>\",\"PeriodicalId\":56095,\"journal\":{\"name\":\"Pediatrics and Neonatology\",\"volume\":\"65 6\",\"pages\":\"Pages 527-531\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatrics and Neonatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S187595722400113X\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatrics and Neonatology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S187595722400113X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
摘要
X 连锁肌管肌病(XLMTM)是一种严重的先天性骨骼肌疾病,通常在出生时就会出现,需要进行大量抢救。虽然该病的表型多变,但由于住院率和婴儿期死亡率较高,其诊断预后较差。因此,对 XLMTM 患者的管理应在与家长共同决策的指导下进行,同时考虑到疾病的严重程度和进展、生活质量以及对护理人员的要求。我们描述了一个由两个同父异母的兄弟姐妹组成的家庭,他们都患有严重的新生儿型 XLMTM,预后和结局各不相同。此外,我们还在该家族中发现了 MTM1 基因内含子-5 中的 c.343-1G > A 变异。在此,我们提出了一种处理 XLMTM 的算法,概述了产前和产后随访期间的重要注意事项。
X-linked myotubular myopathy in a family of two infant siblings: A case report and review
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period.
期刊介绍:
Pediatrics and Neonatology is the official peer-reviewed publication of the Taiwan Pediatric Association and The Society of Neonatology ROC, and is indexed in EMBASE and SCOPUS. Articles on clinical and laboratory research in pediatrics and related fields are eligible for consideration.