Acalvaria: First Surviving Case From Egypt-Case Report and Comprehensive Review of the Literature.

Abstract

Background and objectives: Acalvaria is an extremely rare congenital malformation characterized by the absence of calvarial bones, with preservation of the skull base, facial bones, and usually normal brain tissue. Most reported cases are fatal in the neonatal period. The aim of this report was to present the first surviving case from Egypt and provide a comprehensive review of the literature.

Methods: A detailed clinical, radiological, and imaging evaluation of a full-term male infant diagnosed with acalvaria was conducted. A literature search was performed to identify and summarize previously reported cases worldwide.

Results: The patient, now 3-month-old, demonstrates normal growth and neurological development despite the absence of calvarial bones and defective posterior cervical vertebral arches, with no neurological deficits. Imaging confirmed the diagnosis. The literature review highlights the rarity of survival in acalvaria cases.

Conclusion: This report adds to the limited literature on acalvaria by demonstrating the possibility of survival and normal development. It underscores the importance of accurate diagnosis, counseling, and follow-up in such rare congenital anomalies.