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

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.