Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes?

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2025-06-18 DOI:10.1016/j.pediatrneurol.2025.06.012

Cristina Mastropietro MD , Carole Gengler MD , Camille Kumps MD , Diana Ballhausen MD , Sébastien Joye MD , Juliane Schneider MD , Anita C. Truttmann MD

{"title":"Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes?","authors":"Cristina Mastropietro MD , Carole Gengler MD , Camille Kumps MD , Diana Ballhausen MD , Sébastien Joye MD , Juliane Schneider MD , Anita C. Truttmann MD","doi":"10.1016/j.pediatrneurol.2025.06.012","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Symmetrical thalamic lesions (STL) is a rare condition that affects term newborns who have suffered an antenatal hypoxic insult and present at birth with specific clinical features: feeding and swallowing difficulties, facial hypomimia, apnea, and frequently hypertonia. Recently STL have also been described in preterm infants.</div></div><div><h3>Case details</h3><div>We describe the first case series of STL in preterm triplets with a variable spectrum of clinical outcomes, following a clearly identified perinatal anoxic insult. Spontaneous male triplets, two monochorionic-diamniotic (T1 and T2) and one dichorionic-diamniotic (T3), were born at 31 1/7 gestational weeks by emergency Caesarean section due to maternal anaphylactic shock and presented with severe neonatal asphyxia.</div></div><div><h3>Conclusions</h3><div>The clinical presentation, neuroimaging studies, and autoptic findings of the two monochorionic twins are compatible with STL with a more severe neurological presentation of T1. The dichorionic triplet was completely unaffected. Genetic and metabolic studies excluded alternative etiologies.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 80-84"},"PeriodicalIF":2.1000,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric neurology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S088789942500181X","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background

Symmetrical thalamic lesions (STL) is a rare condition that affects term newborns who have suffered an antenatal hypoxic insult and present at birth with specific clinical features: feeding and swallowing difficulties, facial hypomimia, apnea, and frequently hypertonia. Recently STL have also been described in preterm infants.

Case details

We describe the first case series of STL in preterm triplets with a variable spectrum of clinical outcomes, following a clearly identified perinatal anoxic insult. Spontaneous male triplets, two monochorionic-diamniotic (T1 and T2) and one dichorionic-diamniotic (T3), were born at 31 1/7 gestational weeks by emergency Caesarean section due to maternal anaphylactic shock and presented with severe neonatal asphyxia.

Conclusions

The clinical presentation, neuroimaging studies, and autoptic findings of the two monochorionic twins are compatible with STL with a more severe neurological presentation of T1. The dichorionic triplet was completely unaffected. Genetic and metabolic studies excluded alternative etiologies.

查看原文本刊更多论文

三胞胎的对称性丘脑病变：我们能从不同的表型中学到什么？

背景：对称性丘脑病变（STL）是一种罕见的疾病，发生在足月新生儿中，这些新生儿遭受了产前缺氧损伤，并在出生时表现出特定的临床特征：进食和吞咽困难，面部低语速，呼吸暂停，以及频繁的高张力。最近，STL也出现在早产儿中。病例细节我们描述了第一例STL在早产三胞胎具有不同的临床结果谱，明确识别围产期缺氧损伤。在妊娠31 /7周时，因产妇过敏性休克急诊剖宫产，出现严重新生儿窒息，2例单绒毛膜-双羊膜（T1、T2）， 1例双绒毛膜-双羊膜（T3）。结论两例单绒毛膜双胞胎的临床表现、神经影像学研究和自噬结果符合STL，但神经学表现更严重的T1。双绒毛膜三胞胎完全未受影响。遗传和代谢研究排除了其他病因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.