A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.
All Science Journal Classification (ASJC) codes
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- 5q15 deletion
- congenital anomalies