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Anterior basal encephalocele of the neonatal and infantile period
Insights
Occult basal encephalocele diagnosis is aided by recognizing specific signs. Transsphenoidal encephalocele surgery shows promise, but risks remain, especially in infants with incorporated pituitary-hypothalamic structures.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Surgery
Background:
- Occult basal encephalocele diagnosis relies on recognizing characteristic clinical and radiological signs.
- Transsphenoidal encephalocele surgery has improved, but risks persist, particularly in early infancy due to pituitary-hypothalamic structure involvement.
Observation:
- A high correlation exists between transsphenoidal encephalocele in pediatric patients and associated facial, ocular, and brain malformations.
- Three neonatal cases of transsphenoidal encephalocele presented with progressive nasopharyngeal airway obstruction.
- Associated malformations included median cleft face syndrome, optic nerve dysplasia, agenesis of the corpus callosum, and septo-optic dysplasia.
Findings:
- Surgical outcomes for transsphenoidal encephalocele vary, with significant risks in infants due to potential hypothalamic dysfunction after transcranial repair.
- A common pathogenetic mechanism during embryogenesis, specifically anterior neuropore closure, may explain the observed malformation complex.
- Two of the reported neonatal cases experienced fatal outcomes, one preoperatively and one postoperatively, while the third patient had extensive anomalies precluding surgery.
Implications:
- Understanding the embryological basis of basal encephalocele and associated anomalies is crucial for diagnosis and management.
- Careful surgical planning and consideration of hypothalamic involvement are essential for improving outcomes in infantile transsphenoidal encephalocele.
- Early diagnosis and recognition of associated malformations are critical for managing neonates with transsphenoidal encephalocele presenting with airway compromise.
Abstract:
Diagnosis of occult basal encephalocele is not difficult if the peculiar clinical and radiological signs of this anomaly are borne in mind. Recent surgery for transsphenoidal encephalocele has had better results than realized. However, high surgical risks may still be encountered in transsphenoidal encephalocele of the early infantile period, because the pituitary-hypothalamic structures are usually incorporated in the herniated encephalocele of this age group. Surgical indications for and operative approaches to transsphenoidal encephalocele in the infantile period are discussed on the basis of the authors' failure in transcranial repair, which resulted in early postoperative death due to hypothalamic dysfunction. Reviewing the reported cases of anterior basal encephalocele, a high correlation between transsphenoidal encephalocele, particularly in the pediatric age group, and allied malformations of the face, eye, and brain was disclosed. This characteristic malformation complex may be explained by a common pathogenetic mechanism operating in the embryonal period at about the stage of the anterior neuropore closure and occurring in the ventral surface of the cephalic end of the neural tube. Three cases of transsphenoidal encephalocele diagnosed in the neonatal period with progressive obstruction in the nasopharyngeal airway are also reported. A characteristic malformation complex consisting of median cleft face syndrome, optic nerve dysplasia, and agenesis of the corpus callosum was associated in two cases; the other patient had an extremely rare combination of septooptic dysplasia. Two patients died pre- and postoperatively, respectively; the other patient did not undergo operation because of grave multiple anomalies.