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

Q4 Medicine Radiology Case Reports Pub Date : 2025-04-01 Epub Date: 2025-01-27 DOI:10.1016/j.radcr.2025.01.029
Parishmita Barman MBBS , Gaurav Vedprakash Mishra MBBS, MD , G Murugan MBBS, MD , Piyoosh Priyadarshee MBBS , Mayur Wanjari MSc , Anshul Sood MBBS
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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.
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伴有脑膜膨出的大叶性前脑畸形:一例罕见的25岁患者多次癫痫发作的病例报告
大叶无前脑畸形(HPE)是最轻微的HPE,表现为沿整个中线大部分延伸的半球间裂,丘脑未融合。大叶性HPE通常在产前或婴儿期诊断;然而,成人发病的病例极为罕见。在这里,我们报告了一位25岁的患者,他出现了多次癫痫发作,随后被诊断为大叶性HPE伴脑膜膨出。通过揭示这种罕见的脑部畸形,我们希望提高医疗保健专业人员的认识,并促进对成人发病的HPE的发病机制、临床病程和治疗的进一步研究。
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来源期刊
Radiology Case Reports
Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging
CiteScore
1.10
自引率
0.00%
发文量
1074
审稿时长
30 days
期刊介绍: The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.
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