Craniosynostosis associated with neural tube defects: is there a causal association?

The majority of primary craniosynostosis cases are sporadic. Very few articles in the literature have described cases of primary craniosynostosis associated with neural tube defects (NTDs). This co-occurrence has been seen by most authors as just a coincidence. The authors report a clinical series of 4 patients of primary craniosynostosis associated with NTDs treated at their center. Among these 4 cases, 2 had lumbosacral myelomeningocele, 1 frontoethmoidal encephalocele and 1 had occipital encephalocele. Although the co-occurrence of craniosynostosis and NTD is said to be rare, there seems to exist a justified underlying explanation for the same. The NTD causes a decrease in intracranial pressure due to egress of cerebrospinal fluid in the malformed sac that results in a deficient cerebral impulse for cranial growth that might stimulate premature sutural fusion. Thus, all patients with NTDs should be thoroughly evaluated for this association and for possible surgical management.