Yoo Kyung-Eun, Chong Kyuha, Yang Misun, Seo Jeong-Min, Choi Na-Yeon, Lim So-Young
Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Departement of Neurosurgery.
J Craniofac Surg. 2024 Jul 16. doi: 10.1097/SCS.0000000000010246.
Apert's syndrome (AS) is a rare congenital malformation characterized by distinctive clinical manifestations such as syndactyly of the extremities and midface retrusion, which set it apart from other syndromes. This condition often presents with craniosynostosis and, less commonly, central nervous system abnormalities like encephalocele. In this report, we present a typical case of Apert syndrome with an occipital encephalocele. The infant had plagio-brachycephaly due to craniosynostosis and required urgent repair of the occipital encephalocele. At 1 month of age, we performed both the encephalocele repair and early cranioplasty for autologous bone grafting. This case underscores the importance of early diagnosis and surgical interventions in Apert's syndrome cases with encephalocele.
阿佩尔综合征（AS）是一种罕见的先天性畸形，其特征为独特的临床表现，如肢体并指和中面部后缩，这使其有别于其他综合征。这种疾病常伴有颅缝早闭，较少见的是伴有脑膨出等中枢神经系统异常。在本报告中，我们呈现了一例伴有枕部脑膨出的典型阿佩尔综合征病例。该婴儿因颅缝早闭出现斜头短头畸形，需要紧急修复枕部脑膨出。在1月龄时，我们同时进行了脑膨出修复和早期颅骨成形术以进行自体骨移植。该病例强调了在伴有脑膨出的阿佩尔综合征病例中早期诊断和手术干预的重要性。
