The persistence of a craniopharyngeal or transsphenoidal channel is hypothesized to cause transsphenoidal encephalocele. It is a vertical midline skull base defect that extends from the sellar floor to the nasopharynx and has a diameter of typically less than 1.5 mm. The diagnosis is made in the first year of life for the vast majority of patients. However, in the absence of distinctive facial features, the diagnosis may not be made until adolescence or maturity [2].
Most transsphenoidal meningoencephaloceles are unearthed in the first year of life as a result of symptoms like respiratory distress brought on by pharyngeal or nasal obstruction, feeding issues, hypertelorism, a mass in the oral cavity, and endocrine anomalies [1,5]. A third of the patients have congenital anomalies such as hypertelorism, median nasal fissure, broad nasal root, and cleft lip or palate. Anophthalmia or microphthalmia, colobomas, retinal abnormalities, and morning glory syndrome, are among the optic malformations commonly observed. Corpus callosum agenesis occurs in approximately half of the afflicted individuals, as does hydrocephalus and pituitary hypoplasia. An association with Wolf-Hirschhorn syndrome has also been described in the literature [6,7,8].
Neuroimaging with high-resolution CT and MRI usually confirms the diagnosis and provides a clear picture of the contents in the herniated sac. An endocrine assessment is also essential, with the most common observed deficiencies being a deficiency of anti-diuretic hormone and growth hormone deficiency [2].
The surgical approach for the repair of this defect includes transcranial and trans palatal approaches and an endoscopic repair via the nasal cavity.
In adults, the endoscopic approach via the nasal cavity is the preferred route for lesion repair. This approach has been used on older children as well however, in the neonatal population, there are no documented cases of endoscopic management. Anatomical distortions of cleft lip and palate may however pose challenges in the trans nasal approach.
Other documented cases of neonatal cephalocele have been corrected using the transpalatal approach, especially if facilitated by a sufficiently large cleft palate. Its benefits include improved access (especially in cases of the associated cleft palate), improved cosmesis, and lower recurrence rates. By using the transpalatal approach, there is a lower risk of damaging the functional tissue in the encephalocele wall. The sac is easily dissected and reinserted into the cranium. This method, however, makes repairing the skull base difficult. If a sufficiently large cleft palate is not present, palatal osteotomies must be performed and the hard palate removed. The closure of the mucosal layer and skull base reconstruction is difficult, often requiring skin and bone graft or silicone plate.
The transcranial route is the standard method of repair, as was chosen for our patient. The transcranial approach gives a more detailed view of defects and thus facilitates better repair. The repair of basal defect can be done with either an autologous graft or titanium mesh. However, transcranial repair of these lesions necessitates a craniotomy and carries a mortality rate of more than 50%. The most common complications are associated with the removal of functioning neural tissue, anosmia, intracerebral hemorrhage, and frontal lobe dysfunction. [1.2,4]. In our patient, the immediate postoperative period was uneventful, and the child continues to be under regular endocrine evaluation for hormonal therapy, including thyroxine supplementation.