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Encephalocele is a defect of the neural tube. Dandy Walker malformation (DWM) is a defect involving agenesis or hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and enlargement of the posterior fossa. This is a case of a female preterm infant born at 36 weeks’ gestation who presented with DWM and an encapsulated occipital encephalocele at birth. The pregnancy was complicated by poorly controlled maternal diabetes. Prenatal ultrasound indicated a central nervous system anomaly. Amniocentesis did not show chromosomal abnormality. The infant also presented with polydactyly of the right thumb. MRI showed evidence of soft tissue within the defect and confirmed the presence of DWM. Renal ultrasound was normal. Whole exome sequencing revealed three variants of possible pathologic or unknown significance. No variants of known clinical significance were found. The encephalocele was repaired by ventriculoperitoneal shunt and cranioplasty at 18 days of age.
Patel, Heerali, "Postnatal Diagnosis of Dandy Walker Malformation with Encephalocele" (2021). Child Health Research Institute Pediatric Research Forum. 18.