Incidentally Detected Bilateral Squamosal Craniosynostosis with Elevated Intracranial Pressure in a Patient with 22q11.2 Deletion Syndrome

Abstract

Introduction:

Craniosynostosis in 22q11.2 Deletion Syndrome (22q11.2DS) is a known, but uncommon entity, often due to a secondary variant in the CDC45 gene on the intact chromosome 22q11.2 allele. Currently, there are no reported cases in the literature documenting bilateral squamosal craniosynostosis in this patient cohort.

Case description:

We present the case of a 9-year old boy with 22q11.2DS who underwent routine magnetic resonance screening prior to a posterior pharyngeal flap to screen for internal carotid artery malposition. Incidentally, severe optic nerve swelling and signs concerning for elevated intracranial pressure were detected, and as the team was familiar with the association of a chromosome 22q11.2 deletion and craniosynostosis, a prompt diagnosis of bilateral squamosal craniosynostosis was made. The patient subsequently underwent urgent posterior vault distraction osteogenesis prior to speech surgery.

Discussion:

Patients with 22q11.2DS are medically complex, which can confound the communication of symptoms such as headaches or visual disturbances. Therefore, routine multidisciplinary care, including ophthalmologic examinations are essential. Healthcare providers must maintain a heightened awareness of potential associated problems, such as craniosynostosis, to explain atypical symptoms in this challenging patient population.