Acalvaria: the first case report from Nepal

Author:

K.C. Kusha,Baral Abal

Abstract

Introduction and importance: Acalvaria is a rare congenital malformation in which the flat bones of the cranial vault, dura mater, and associated muscles are absent while the central nervous system usually remains unaffected. It is an extremely rare congenital anomaly with only a handful of cases being reported in literature. Case presentation: The authors report a case of a 2-month-old male infant with acalvaria who was delivered at home and brought to our centre with the complaint of an abnormally soft skull. He was evaluated in a primary centre in rural Nepal. Parietal bones were missing bilaterally but no other abnormalities were found during the physical examination and investigations. Major differential diagnoses like anencephaly, cephalocele, osteogenesis imperfecta type II, and hypophosphatasia were ruled out with the help of history, physical examination, and available investigations and the case was diagnosed as acalvaria. Clinical discussion: Acalvaria is a post-neurulation defect which is associated with anomalies of various organ systems. Radiological diagnosis, with supportive laboratory investigations, is the most reliable method of antenatal diagnosis. Conclusion: Acalvaria is known to have a dismal prognosis and all the living cases with long-term follow-up are mentally retarded and physically disabled. Early and reliable antenatal diagnosis can reduce the economic, physical, and psychological burden associated with this fatal disease, especially in low-income countries.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,Surgery

Reference20 articles.

1. Acalvaria: a unique congenital anomaly;Harris;Am J Med Genet,1993

2. Acalvaria;Khadilkar;Indian Pediatr,2004

3. Acrania: report of the first surviving case;Kurata;Pediatr Neurosurg,1996

4. Sonographic diagnosis of fetal acrania;Ekici;J Clin Ultrasound JCU,1991

5. Early prenatal diagnosis of acrania by transvaginal ultrasonography;Yang;J Clin Ultrasound JCU,1992

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3