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.
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The literature search in this study was conducted using Pubmed and Google Scholar.
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All authors contributed to the study’s conception and design. Muhammet Elveren, Deniz Büsra Inci and Mehmet Genco conducted the data extraction from the patient fles. Muhammet Elveren performed the literature search initially with contribution from co-authors. The selection of cranial computed tomography images was Muhammet Elveren. Muhammet Elveren drafted the initial manuscript, and all authors commented on previous versions. All authors read and approved the final manuscript.
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Elveren, M., Inci, D.B. & Genco, M. Acalvaria: a case report of a rare congenital malformation and a review of the literature. Childs Nerv Syst 40, 1315–1318 (2024). https://doi.org/10.1007/s00381-023-06266-8
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DOI: https://doi.org/10.1007/s00381-023-06266-8