Long-term sequelae of normocephalic pansynostosis: a rare but insidious entity

Patients with normocephalic pansynostosis, who have a grossly normal head shape, are often overlooked early in life and present late with elevated intracranial pressure (ICP) requiring timely cranial vault expansion. This study evaluates the long-term clinical outcomes of patients with normocephalic pansynostosis.

We retrospectively reviewed patients with a clinical and radiographic diagnosis of primary pansynostosis who underwent vault reconstruction between 2000 and 2023. Clinical and treatment course after craniofacial interventions was followed in patients with normocephaly to assess outcomes.

Thirty-five patients with primary pansynostosis were identified, of which eight (23.5%) had normocephaly and underwent initial vault expansion at a mean age of 5.0 ± 2.4 years. All eight patients (50.0% male) presented with symptoms of elevated ICP including headaches (50.0%), nausea and vomiting (50.0%), and developmental delay (62.5%) and/or signs of elevated ICP including papilledema (75.0%) and radiologic thumbprinting on head computed tomography scan (87.5%). Three of the four normocephalic patients who had over 7 years of postoperative follow-up developed subjective headaches, vision changes, or learning and behavioral issues in the long-term despite successful vault reconstruction.

Our longitudinal experience with this rare but insidious entity demonstrates the importance of timely intervention and frequent postoperative monitoring, which are critical to limiting long-term neurological sequelae. Multidisciplinary care by craniofacial surgery, neurosurgery, ophthalmology, and neuropsychology with follow-up into adolescence are recommended to assess for possible recurrence of elevated ICP secondary to cranio-cerebral disproportion.