Normocephalic pancraniosynostosis resulting in late presentation of elevated intracranial pressures

Pancraniosynostosis presents with premature fusion of three or more major cranial sutures. The four presentations of primary pancraniosynostosis are kleeblattschädel, complex, progressive, and normocephalic. This study compares the clinical presentation and treatment course of patients with normocephalic presentation against the other pancraniosynostosis groups.

The authors conducted a retrospective chart review of patients who presented to the craniofacial clinic at The Children's Hospital of Philadelphia with primary pancraniosynostosis born between January 1, 2000, and February 1, 2009. Patients with secondary causes of pancraniosynostosis were excluded. Data extracted included presenting symptoms, head shape, cranial sutures involved, and presence of clinical and radiologic evidence of elevated intracranial pressure. Surgical intervention(s) and the subsequent clinical course were noted. The between-group difference in the initial age of presentation and age at first cranial vault surgery were compared using the Mann-Whitney U test.

There were 17 patients with primary pancraniosynostosis: four kleeblattschädel, eight complex, one progressive, and four normocephalic. The average age at presentation and length of follow-up were 1.1 years and 3.8 years, respectively. Patients with normocephalic pancraniosynostosis presented at an average age of 3.5 years compared with 2 months in the other three groups (p = 0.01). The age at first cranial vault remodeling surgery for the normocephalic pancraniosynostosis group was 4 years 8 months compared with 11 months in the other three groups (p = 0.01).

Patients with normocephalic pancraniosynostosis have an insidious clinical course. Because of their indistinct cranial morphology, they present late with significant symptoms of elevated intracranial pressure requiring urgent surgical decompression.