Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins.

IF 0.9 4区医学 Q4 CLINICAL NEUROLOGY Pediatric Neurosurgery Pub Date : 2024-01-01 Epub Date: 2024-01-19 DOI:10.1159/000536380

José Roberto Tude Melo, Ana Rita de Luna Freire Peixoto, Danilo Marden de Lima Souza

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Abstract

Introduction: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab.

Case presentation: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity. During the diagnostic investigation, computed tomography with three-dimensional reconstruction of the skull showed premature fusion of the left coronal and metopic sutures in both twins. They underwent craniofacial reconstruction at the 9th month of age using a combination of techniques. The postoperative outcomes were satisfactory in both cases.

Conclusion: To the best of our knowledge, this is the first case report to describe the occurrence of complex craniosynostosis (CCS) in children with PTHS. Further studies are needed to determine whether the co-occurrence of PTHS and CCS described here indicates an association or is explained by chance.

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皮特-霍普金斯综合征的复杂颅骨畸形：双胞胎病例报告

简介皮特-霍普金斯综合征（Pitt-Hopkins Syndrome，PTHS）是一种罕见的遗传综合征，与神经发育障碍和颅面畸形有关，由TCF4过渡因子变异引起。本文旨在报告两例被诊断为 PTHS 的双胞胎婴儿的病例，通过从口腔拭子中提取的 DNA 鉴定出 TCF4 基因中的杂合致病变体，证实了该病例：病例介绍：两名婴儿均表现为颅面不对称，有偏头嵴和颅骨畸形。在诊断检查过程中，计算机断层扫描和头骨三维重建显示，这对双胞胎的左冠状缝和偏侧缝过早融合。他们在9个月大时接受了颅颌面重建手术，采用了多种技术。两例患者的术后效果均令人满意：据我们所知，这是第一例描述 PTHS 患儿发生复杂颅畸形（CCS）的病例报告。我们还需要进一步研究，以确定此处描述的 PTHS 和 CCS 的同时发生是否表明两者之间存在关联，还是偶然因素所致。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Neurosurgery 医学-临床神经学

CiteScore

1.30

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Articles in ''Pediatric Neurosurgery'' strives to publish new information and observations in pediatric neurosurgery and the allied fields of neurology, neuroradiology and neuropathology as they relate to the etiology of neurologic diseases and the operative care of affected patients. In addition to experimental and clinical studies, the journal presents critical reviews which provide the reader with an update on selected topics as well as case histories and reports on advances in methodology and technique. This thought-provoking focus encourages dissemination of information from neurosurgeons and neuroscientists around the world that will be of interest to clinicians and researchers concerned with pediatric, congenital, and developmental diseases of the nervous system.