Diencephalic-mesencephalic junction dysplasia: case report and literature review.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Tenoch Herrada-Pineda, Ana Karen Perez-Vazquez, Salvador Manrique-Guzman, Francisco R Revilla-Pacheco, Eduardo Torres-Olivas, Maria Jose Wilches-Davalos, Tania Ivette Sanchez-Zacarias, Gilda Garza-Mayen, Jorge Arturo Cardona-Perez
{"title":"Diencephalic-mesencephalic junction dysplasia: case report and literature review.","authors":"Tenoch Herrada-Pineda, Ana Karen Perez-Vazquez, Salvador Manrique-Guzman, Francisco R Revilla-Pacheco, Eduardo Torres-Olivas, Maria Jose Wilches-Davalos, Tania Ivette Sanchez-Zacarias, Gilda Garza-Mayen, Jorge Arturo Cardona-Perez","doi":"10.1007/s00381-025-06808-2","DOIUrl":null,"url":null,"abstract":"<p><p>Diencephalic-mesencephalic junction (DMJ) dysplasia is a rare congenital brain malformation characterized by a poorly defined junction between the diencephalon and mesencephalon, often associated with a butterfly-like contour of the midbrain on magnetic resonance imaging (MR). We report the case of a newborn female diagnosed prenatally with DMJ dysplasia who presented with severe ventriculomegaly, hydrocephalus, and oligohydramnios. Prenatal MRI at 32 weeks revealed a thickened interthalamic adhesion, an elongated midbrain with ventral cleft, aqueductal stenosis, and corpus callosum dysgenesis. Postnatal MRI confirmed these findings, along with the characteristic \"butterfly\" midbrain morphology. Genetic analysis revealed a pathogenic 11.9 Mb terminal deletion in the 6q25.3q27 region, encompassing candidate neurodevelopmental genes, such as DLL1, and a 3.8 Mb partial duplication in 22q13.31q13.33, of unknown significance. Parental genetic testing revealed a maternal balanced reciprocal translocation between chromosomes 6 and 22 (asymptomatic carrier), which was inherited in an unbalanced form by the proband. A ventriculoperitoneal shunt was placed within the first 48 h of life to manage hydrocephalus, with subsequent adjustments and revisions as needed. This case highlights the importance of advanced prenatal imaging and genetic testing in the diagnosis of complex brain malformations as well as the need for multidisciplinary management of rare congenital anomalies. Further research is essential to elucidate the underlying genetic mechanisms and improve the outcomes in patients with DMJ dysplasia.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"146"},"PeriodicalIF":1.3000,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Child's Nervous System","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00381-025-06808-2","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Diencephalic-mesencephalic junction (DMJ) dysplasia is a rare congenital brain malformation characterized by a poorly defined junction between the diencephalon and mesencephalon, often associated with a butterfly-like contour of the midbrain on magnetic resonance imaging (MR). We report the case of a newborn female diagnosed prenatally with DMJ dysplasia who presented with severe ventriculomegaly, hydrocephalus, and oligohydramnios. Prenatal MRI at 32 weeks revealed a thickened interthalamic adhesion, an elongated midbrain with ventral cleft, aqueductal stenosis, and corpus callosum dysgenesis. Postnatal MRI confirmed these findings, along with the characteristic "butterfly" midbrain morphology. Genetic analysis revealed a pathogenic 11.9 Mb terminal deletion in the 6q25.3q27 region, encompassing candidate neurodevelopmental genes, such as DLL1, and a 3.8 Mb partial duplication in 22q13.31q13.33, of unknown significance. Parental genetic testing revealed a maternal balanced reciprocal translocation between chromosomes 6 and 22 (asymptomatic carrier), which was inherited in an unbalanced form by the proband. A ventriculoperitoneal shunt was placed within the first 48 h of life to manage hydrocephalus, with subsequent adjustments and revisions as needed. This case highlights the importance of advanced prenatal imaging and genetic testing in the diagnosis of complex brain malformations as well as the need for multidisciplinary management of rare congenital anomalies. Further research is essential to elucidate the underlying genetic mechanisms and improve the outcomes in patients with DMJ dysplasia.

间脑-中脑交界处发育不良:1例报告及文献复习。
间脑-中脑交界处(DMJ)发育不良是一种罕见的先天性脑畸形,其特征是间脑和中脑交界处界限不清,通常在磁共振成像(MR)上伴有中脑蝴蝶状轮廓。我们报告的情况下,新生女性诊断产前DMJ发育不良,谁提出了严重的脑室肿大,脑积水和羊水过少。孕32周时的产前MRI显示丘脑间粘连增厚,中脑延长伴腹侧裂,导水管狭窄,胼胝体发育不良。出生后的MRI证实了这些发现,以及典型的“蝴蝶”中脑形态。遗传分析显示6q25.3q27区域有11.9 Mb的致病性末端缺失,包括候选神经发育基因,如DLL1,以及22q13.31q13.33区域3.8 Mb的部分重复,但意义未知。亲本基因检测显示,6号染色体和22号染色体(无症状携带者)之间存在母体平衡互惠易位,先证者以不平衡形式遗传。在出生后48小时内进行脑室-腹膜分流术以治疗脑积水,随后根据需要进行调整和修正。该病例强调了先进的产前成像和基因检测在复杂脑畸形诊断中的重要性,以及对罕见先天性异常进行多学科管理的必要性。需要进一步的研究来阐明潜在的遗传机制并改善DMJ发育不良患者的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Child's Nervous System
Child's Nervous System 医学-临床神经学
CiteScore
3.00
自引率
7.10%
发文量
322
审稿时长
3 months
期刊介绍: The journal has been expanded to encompass all aspects of pediatric neurosciences concerning the developmental and acquired abnormalities of the nervous system and its coverings, functional disorders, epilepsy, spasticity, basic and clinical neuro-oncology, rehabilitation and trauma. Global pediatric neurosurgery is an additional field of interest that will be considered for publication in the journal.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信