{"title":"伴有新生儿心力衰竭的 X 连锁智力发育障碍:病例报告和文献综述","authors":"Hongmin Xi, Lili Ma, Xiangyun Yin, Ping Yang, Xianghong Li, Liangliang Li","doi":"10.1016/j.ymgmr.2024.101054","DOIUrl":null,"url":null,"abstract":"<div><p>X-linked intellectual developmental disorder is a rare X-linked genetic disease, manifested as heart disease, intellectual impairment, and developmental disorders.</p><p>We report a male infant who presented with dyspnea after birth. Physical examination on admission revealed poor responsiveness, deep eye sockets, a small mandible, abnormalities of the outer ears, and reduced limb muscle tone. The child was moaning with shortness of breath and a positive three-concave sign without pulmonary rales. The heart sounds were weak with a grade 2/6 diastolic heart murmur. Echocardiography showed an enlarged heart with increased trabeculae in the left ventricular muscle wall. X-linked mental retardation syndrome type 34(MRXS34, OMIM# <span>300967</span><svg><path></path></svg>) was diagnosed after exome sequencing showed a c.1131G > A hemizygous variant in the <em>NONO</em> gene. After timely therapy including respiratory support, cardiac glycosides, and diuresis, the child's condition improved and he was discharged at one month of age.</p><p>A literature review showed that, to date, 22 live births with X-linked mental retardation have been reported<sup>.</sup> The <em>NONO</em>-related phenotype can be summarized as a neurological and cardiac developmental disorder, which may be accompanied by multisystem malformations. The present case enriches the knowledge of X-linked intellectual developmental syndromes.</p></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":null,"pages":null},"PeriodicalIF":1.8000,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214426924000077/pdfft?md5=8eaaf531f78c70102de1ac80fb709cc8&pid=1-s2.0-S2214426924000077-main.pdf","citationCount":"0","resultStr":"{\"title\":\"X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review\",\"authors\":\"Hongmin Xi, Lili Ma, Xiangyun Yin, Ping Yang, Xianghong Li, Liangliang Li\",\"doi\":\"10.1016/j.ymgmr.2024.101054\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>X-linked intellectual developmental disorder is a rare X-linked genetic disease, manifested as heart disease, intellectual impairment, and developmental disorders.</p><p>We report a male infant who presented with dyspnea after birth. Physical examination on admission revealed poor responsiveness, deep eye sockets, a small mandible, abnormalities of the outer ears, and reduced limb muscle tone. The child was moaning with shortness of breath and a positive three-concave sign without pulmonary rales. The heart sounds were weak with a grade 2/6 diastolic heart murmur. Echocardiography showed an enlarged heart with increased trabeculae in the left ventricular muscle wall. X-linked mental retardation syndrome type 34(MRXS34, OMIM# <span>300967</span><svg><path></path></svg>) was diagnosed after exome sequencing showed a c.1131G > A hemizygous variant in the <em>NONO</em> gene. After timely therapy including respiratory support, cardiac glycosides, and diuresis, the child's condition improved and he was discharged at one month of age.</p><p>A literature review showed that, to date, 22 live births with X-linked mental retardation have been reported<sup>.</sup> The <em>NONO</em>-related phenotype can be summarized as a neurological and cardiac developmental disorder, which may be accompanied by multisystem malformations. 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引用次数: 0
摘要
X连锁智力发育障碍是一种罕见的X连锁遗传病,表现为心脏病、智力障碍和发育障碍。我们报告了一名出生后出现呼吸困难的男婴。入院时的体格检查显示,患儿反应迟钝、眼窝深陷、下颌骨小、外耳畸形、四肢肌张力减弱。患儿伴有呻吟和气短,三凹征阳性,但无肺部啰音。心音微弱,心脏舒张期杂音为2/6级。超声心动图显示心脏增大,左心室肌壁小梁增多。外显子组测序显示,NONO基因中存在一个c.1131G > A半杂合子变异,诊断为X连锁智力低下综合征34型(MRXS34,OMIM# 300967)。经过呼吸支持、强心甙和利尿等及时治疗后,患儿病情好转,一个月大时出院。NONO相关表型可概括为神经和心脏发育障碍,可能伴有多系统畸形。本病例丰富了人们对 X 连锁智力发育综合征的认识。
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review
X-linked intellectual developmental disorder is a rare X-linked genetic disease, manifested as heart disease, intellectual impairment, and developmental disorders.
We report a male infant who presented with dyspnea after birth. Physical examination on admission revealed poor responsiveness, deep eye sockets, a small mandible, abnormalities of the outer ears, and reduced limb muscle tone. The child was moaning with shortness of breath and a positive three-concave sign without pulmonary rales. The heart sounds were weak with a grade 2/6 diastolic heart murmur. Echocardiography showed an enlarged heart with increased trabeculae in the left ventricular muscle wall. X-linked mental retardation syndrome type 34(MRXS34, OMIM# 300967) was diagnosed after exome sequencing showed a c.1131G > A hemizygous variant in the NONO gene. After timely therapy including respiratory support, cardiac glycosides, and diuresis, the child's condition improved and he was discharged at one month of age.
A literature review showed that, to date, 22 live births with X-linked mental retardation have been reported. The NONO-related phenotype can be summarized as a neurological and cardiac developmental disorder, which may be accompanied by multisystem malformations. The present case enriches the knowledge of X-linked intellectual developmental syndromes.
期刊介绍:
Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.