Dandy-Walker malformation associated with massive occipital encephalocele: A case report

Dandy-Walker malformation (DWM) is a rare congenital anomaly of the posterior fossa characterized by vermian hypoplasia, cystic dilation of the fourth ventricle, and hydrocephalus. Occipital encephalocele, a neural tube defect involving herniation of meninges and brain tissue, is an uncommon association with DWM, occurring in less than 5 % of cases. The coexistence of these anomalies presents significant diagnostic and management challenges.

We report the case of a one-month-old female infant of Pakistani origin who presented with a large occipital cystic swelling since birth and poor feeding. Clinical examination revealed macrocephaly, a soft and transilluminating occipital cyst, decreased muscle tone, and diminished reflexes. Neuroimaging confirmed features of DWM, including vermian hypoplasia, a posterior fossa cyst communicating with the fourth ventricle, and hydrocephalus, along with a large occipital encephalocele communicating with the cyst. The patient underwent surgical excision of the encephalocele, followed by ventriculoperitoneal shunting for hydrocephalus. Postoperative recovery was stable, with resolution of hydrocephalus following shunt placement.

The patient was discharged with recommendations for regular follow-up to monitor neurological development and potential complications. DWM associated with occipital encephalocele is an extremely rare condition that requires early diagnosis and multidisciplinary management.

Surgical intervention, including encephalocele excision and cerebrospinal fluid diversion, plays a crucial role in improving outcomes. Long-term follow-up is essential to assess neurological development and manage potential complications. This case highlights the importance of timely intervention and individualized treatment strategies for such complex congenital anomalies.