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伴有脑脊膜膨出的叶型前脑无裂畸形:一名25岁癫痫发作患者的罕见病例报告

Lobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures.

作者信息

Barman Parishmita, Mishra Gaurav Vedprakash, Murugan G, Priyadarshee Piyoosh, Wanjari Mayur, Sood Anshul

机构信息

Department of Radiodiagnosis, Shree Balaji Medical College and Hospital, Bharath Institute of Higher Education and Research, Chromepet, Chennai, 600044, India 442001.

Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi, Wardha, Maharashtra, India 442001.

出版信息

Radiol Case Rep. 2025 Jan 27;20(4):2004-2008. doi: 10.1016/j.radcr.2025.01.029. eCollection 2025 Apr.

Abstract

Lobar holoprosencephaly (HPE) represents the mildest form of HPE, featuring an interhemispheric fissure extending along most of the entire midline, with the thalami remaining unfused. Lobar HPE is usually diagnosed in the prenatal stage or infancy; however, cases of adult-onset are exceedingly rare. Here, we present a 25-year-old patient who was presented with multiple episodes of seizures and was subsequently diagnosed with lobar HPE accompanied by a meningocele. By shedding light on this rare brain malformation, we hope to raise awareness among healthcare professionals and stimulate further research into the pathogenesis, clinical course, and management of adult-onset HPE.

摘要

叶状全前脑畸形(HPE)是HPE最轻微的形式,其特征是半球间裂沿整个中线大部分延伸,丘脑仍未融合。叶状HPE通常在产前或婴儿期被诊断出来;然而,成人发病的病例极为罕见。在此,我们报告一名25岁的患者,该患者出现多次癫痫发作,随后被诊断为叶状HPE并伴有脑脊膜膨出。通过揭示这种罕见的脑畸形,我们希望提高医疗专业人员的认识,并激发对成人发病HPE的发病机制、临床过程和管理的进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/322a/11831739/fce200ea2be4/gr1.jpg

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