Acalvaria: a case report of a rare congenital malformation and a review of the literature

Abstract

Acalvaria is a rare congenital malformation characterized by the absence of bones and related muscles in a section of the skull. The number of reported cases in the literature is quite low, and it is generally considered a fatal malformation. We present a case of a newborn diagnosed with acalvaria malformation along with a review of the literature, emphasizing the importance of distinguishing this rare condition from malformations such as anencephaly, exencephaly and acrania.

Introduction: The clinical landscape of acalvaria is scarcely populated, with the malformation often signifying a dire prognosis. Despite the embryological origin and pathogenesis remaining largely enigmatic, it has critical implications for the prenatal and postnatal therapeutic strategies. We investigate a case coupled with a comprehensive literary review to present a clearer clinical portrait and advance the alertness about this lethal anomaly among healthcare providers.

Discussion: The rarity of acalvaria constrains the establishment of a definitive incidence rate or a standardized treatment protocol. Varied associations with other neurological and systemic anomalies pose a significant ambiguity regarding its etiopathogenesis. Differential diagnosis remains intricate, relying on nuanced ultrasonographic examinations and an informed interpretation of embryological developments.

Conclusion: Through our report of an acalvaria-affected newborn undetectable in prenatal ultrasound, we highlight the implications of rarity - the obstacle in uniform diagnosis and the resultant therapeutic challenge. The discussion fosters a need for heightened awareness and consolidating case reports to nurture clinical consensus. Furthermore, it underscores the necessity for multifaceted research efforts towards understanding etiology and optimizing treatment modalities.

Keywords: Acalvaria; Congenital malformation; Cranial bone defect; Postneurulation defect.