Work

Concurrent Dandy-Walker malformation and persistent fetal vasculature: A case report

Year: 2024

Type: article

Abstract: INTRODUCTION AND IMPORTANCE: 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. CASE PRESENTATION: 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. CLINICAL DISCUSSION: 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. CONCLUSION: 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.

Source: International Journal of Surgery Case Reports

DOI: 10.1016/j.ijscr.2024.110270

Authors: Farwa Nisa, Hala Nisa, Arsalan Nadeem, Maira Anwer

Institutions: Fatima Jinnah Medical University, Ziauddin Hospital, Allama Iqbal Medical College, St Helier Hospital, Epsom and St Helier University Hospitals NHS Trust

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,800