Nisa Farwa, Nisa Hala, Nadeem Arsalan, Anwer Maira
Department of Medicine, Fatima Jinnah Medical University, Queen's Road, Lahore, Punjab 54000, Pakistan.
Dr. Ziauddin Hospital Clifton Campus, Clifton, Karachi, Sindh 75600, Pakistan.
Int J Surg Case Rep. 2024 Oct;123:110270. doi: 10.1016/j.ijscr.2024.110270. Epub 2024 Sep 10.
Dandy-Walker malformation (DWM) is a rare cerebellar condition, and persistent fetal vasculature (PFV) is a congenital eye anomaly. This report presents the first known case of DWM with PFV.
A 31-day-old male infant presented with right eye discharge, lethargy, and breath-holding spells. He was born at 37 weeks with respiratory distress. Examination and CT scan revealed DWM and PFV. Due to financial constraints, recommended treatments were limited. Follow-up at seven months showed developmental delays but no hydrocephalus.
The co-occurrence of DWM and PFV is exceptionally rare and may be linked to TUBA1A gene mutation. Similar cases in the literature support this genetic association.
This study emphasizes the importance of early diagnosis and multidisciplinary management for optimizing outcomes in patients with DWM and PFV. Genetic investigations could further elucidate the underlying pathophysiology.
丹迪-沃克畸形（DWM）是一种罕见的小脑疾病，持续性胎儿血管系统（PFV）是一种先天性眼部异常。本报告介绍了首例已知的伴有PFV的DWM病例。
一名31天大的男婴出现右眼分泌物增多、嗜睡和屏气发作。他在37周时出生，伴有呼吸窘迫。检查和CT扫描显示患有DWM和PFV。由于经济限制，推荐的治疗方法有限。七个月时的随访显示发育迟缓，但无脑积水。
DWM和PFV同时出现极为罕见，可能与TUBA1A基因突变有关。文献中的类似病例支持这种遗传关联。
本研究强调了早期诊断和多学科管理对于优化DWM和PFV患者治疗效果的重要性。基因研究可进一步阐明潜在的病理生理学机制。
