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

• Published in: Child's nervous system Vol. 40; no. 4; pp. 1315 - 1318
• Main Authors: Elveren, Muhammet, Inci, Deniz Büsra, Genco, Mehmet
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-04-2024
• Subjects: Case Report; Medicine; Medicine & Public Health; Neurosciences; Neurosurgery; Postneurulation defect; Acalvaria; Congenital malformation; Cranial bone defect
• ISSN: 0256-7040; 1433-0350
• DOI: 10.1007/s00381-023-06266-8

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.