Division of Paediatric Surgery, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa.
Division of Radiodiagnosis, Department of Medical Imaging and Clinical Oncology, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa.
BMJ Case Rep. 2022 Jul 26;15(7):e249980. doi: 10.1136/bcr-2022-249980.
Patients with an imperforate anus frequently present with congenital abnormalities, most commonly as a component of VACTERL (Vertebral anomalies, Anorectal malformations, Cardiac defect, Tracheo-Oesophageal fistula and Oesophageal atresia, Renal anomalies, and Limb defects) anomalies. It is, however, unusual for infants to present with a concurrent anorectal malformation (ARM) and a Bochdalek type diaphragmatic hernia. We describe an infant with an ARM and a delayed presentation of a right-sided Bochdalek type diaphragmatic hernia. In this case, the Bochdalek type diaphragmatic hernia presented 10 months after a laparoscopic-assisted anorectal plasty was performed. Despite both ARM and congenital diaphragmatic hernia known to be associated with other congenital malformations, the association of these particular congenital abnormalities in an individual patient is uncommon.
患有肛门闭锁的患者常伴有先天性异常，最常见的是作为 VACTERL（椎体异常、肛门直肠畸形、心脏缺陷、气管食管瘘和食管闭锁、肾脏异常和肢体缺陷）异常的一部分。然而，婴儿同时出现肛门直肠畸形（ARM）和博德雷克型膈疝并不常见。我们描述了一例 ARM 患儿，其右侧博德雷克型膈疝表现为延迟。在这种情况下，博德雷克型膈疝在腹腔镜辅助肛门直肠成形术后 10 个月出现。尽管 ARM 和先天性膈疝都与其他先天性畸形有关，但这些特定先天性异常在单个患者中的关联并不常见。
