Transsphenoidal encephalocele masquerading as nasal mass in a 2-year-old boy.

To cite: Chandran S, Raturi S, Pillay HM, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-201426 DESCRIPTION A full-term male baby was born to nonconsanguineous parents. At birth his growth parameters were appropriate for age. On examination he had hypertelorism, broad nasal root and a cleft lip. Cranial ultrasound at birth was grossly normal except for partial agenesis of the corpus callosum. The cleft lip was repaired at 6 months of age. As part of the preoperative check, MRI of the brain was carried out. However it remained unreported. At 2 years of age (figure 1) he presented with recurrent nasal block and sleep disturbances. A detailed rhinoscopic examination showed a glistening mass in the right posterior nasal cavity and choana, causing a near total airway obstruction. Systemic examination was unremarkable. He had a normal ophthalmological evaluation. MRI carried out at 6 months was reviewed and showed a transsphenoidal encephalocele (TSE) with partial agenesis of the corpus callosum (figure 2). Neurosurgical opinion was sought and the consensus was to postpone surgery till second decade of life in view of the high-risk of hypothalamo-pituitary dysfunction following repair of the encephalocele. Basal encephalocele (BE) occurs due to herniation of neural elements including pituitary gland or optic apparatus, through a defect in the skull base. TSE represents less than 5% of all BE with an estimated incidence of 1 in 700 000 live-births. Clinical presentation is most often insidious except in those cases where a large herniation protrudes through the epipharynx. They are often associated with hypertelorism, broad nasal root, cleft lip/palate, optic nerve anomalies and agenesis of the corpus callosum. Non-contrast CT scan of the head can delineate the bony defects. MRI with contrast enhancement is useful in identifying any neural or vascular elements in the herniated encephalocele.