一例罕见的新生儿胼胝体发育不全和严重喉软化症。

IF 0.3 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Hippokratia Pub Date : 2022-07-01
C Kosmeri, N Dermitzaki, V G Xydis, A Drougia
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引用次数: 0

摘要

背景:胼胝体发育不全(ACC)是一种罕见的先天性异常,通常与其他先天性异常、综合征、染色体或遗传疾病有关。ACC可在出生前检测到。产后诊断通常发生在对生命最初几年的神经发育障碍进行神经影像学评估之后。病例描述:我们报告一例新生儿完全ACC,表现为严重的进食、吞咽困难和呼吸系统症状。诊断为合并严重喉软化症。常规颅骨超声检测ACC。分子核型显示9号染色体inv(9)(p23q22.3)的中心周反转,全外显子组测序为阴性。结论:本病例临床表现异常。喉软化症是ACC婴儿中极为罕见的相关异常,文献中仅报道了少数病例。此外,据我们所知,这是第一例与inv(9)(p23q22.3)多态性相关的ACC和喉软化症病例。HIPPOKRATIA 2022,26(3):118-120。
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A rare case of a neonate with agenesis of the corpus callosum and severe laryngomalacia.

Background: Agenesis of the corpus callosum (ACC) is a rare congenital anomaly often associated with other congenital anomalies, syndromic, chromosomal, or genetic disorders. ACC may be detected antenatally. The postnatal diagnosis usually arises following neuroimaging evaluation for neurodevelopmental disorders during the first years of life.

Case description: We report a case of a neonate with complete ACC, presenting with serious feeding-swallowing difficulties and respiratory symptoms. Coexisting severe laryngomalacia was diagnosed. ACC was detected on routine cranial ultrasound. Molecular karyotype revealed pericentric inversion of chromosome 9, inv(9)(p23q22.3), and whole exome sequencing was negative.

Conclusion: The reported case presented unusual clinical manifestations. Laryngomalacia is an extremely rare associated anomaly in infants with ACC, with only a few cases reported in the literature. Moreover, to our knowledge, this is the first reported case of ACC and laryngomalacia associated with the polymorphism inv(9)(p23q22.3). HIPPOKRATIA 2022, 26 (3):118-120.

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来源期刊
Hippokratia
Hippokratia MEDICINE, GENERAL & INTERNAL-
CiteScore
1.10
自引率
0.00%
发文量
0
审稿时长
6-12 weeks
期刊介绍: Hippokratia journal is a quarterly issued, open access, peer reviewed, general medical journal, published in Thessaloniki, Greece. It is a forum for all medical specialties. The journal is published continuously since 1997, its official language is English and all submitted manuscripts undergo peer review by two independent reviewers, assigned by the Editor (double blinded review process). Hippokratia journal is managed by its Editorial Board and has an International Advisory Committee and over 500 expert Reviewers covering all medical specialties and additionally Technical Reviewers, Statisticians, Image processing Experts and a journal Secretary. The Society “Friends of Hippokratia Journal” has the financial management of both the printed and electronic edition of the journal.
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