Gupta Tanya, Suresh Sneha, Chadha Yatika, Toshniwal Saket S, Patil Ragini
Department of Psychiatry, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Sep 15;16(9):e69486. doi: 10.7759/cureus.69486. eCollection 2024 Sep.
Porencephaly is an uncommon neurological condition characterized by cystic cavities or holes in the cerebral hemispheres of the brain filled with cerebrospinal fluid. There are two types of porencephaly: acquired porencephaly, also known as pseudo-porencephaly, and congenital porencephaly, also known as true porencephaly. Acquired porencephaly, also known as encephaloclastic porencephaly, typically results from late prenatal or perinatal vascular lesions caused by arterial ischemic stroke or venous thrombosis. Congenital porencephaly, or genetic porencephaly, arises from maldevelopment during early neuronal migration. Brain lesions associated with congenital porencephaly are thought to result from irregularities in cell migration during development and are often linked to additional brain deformities. Lesions resulting from degenerative disorders caused by vascular, viral, or traumatic events are classified under acquired porencephaly. Familial cases of porencephaly are believed to be caused by mutations in the COL4A1 gene, which lead to brain small-vessel disease with haemorrhage. Due to the variability in lesion size and location, porencephaly presents with a wide range of clinical symptoms. We report a case of a 41-year-old male who is diagnosed as a case of porencephaly with complaints of withdrawn behaviour, decreased interaction, suspiciousness, delusion of persecution and delusion of reference. These symptoms have started in the past two months. This case report contributes to the growing body of research suggesting a potential link between porencephaly and psychosis, despite the limited available data. Further investigation is required to validate this connection and explore the underlying mechanisms. Continued research into this potential association may help guide future psychosis diagnosis and treatment plans.
孔洞脑是一种罕见的神经系统疾病,其特征是脑半球出现充满脑脊液的囊性空洞或孔洞。孔洞脑有两种类型:后天性孔洞脑,也称为假性孔洞脑;先天性孔洞脑,也称为真性孔洞脑。后天性孔洞脑,也称为脑破坏性孔洞脑,通常由产前晚期或围产期动脉缺血性中风或静脉血栓形成引起的血管病变所致。先天性孔洞脑,即遗传性孔洞脑,源于早期神经元迁移过程中的发育异常。与先天性孔洞脑相关的脑损伤被认为是发育过程中细胞迁移不规则导致的,且常与其他脑畸形有关。由血管、病毒或创伤性事件引起的退行性疾病导致的损伤归类于后天性孔洞脑。孔洞脑的家族病例被认为是由COL4A1基因突变引起的,该突变会导致伴有出血的脑小血管疾病。由于病变大小和位置的差异,孔洞脑会表现出广泛的临床症状。我们报告了一例41岁男性病例,该患者被诊断为孔洞脑,伴有退缩行为、互动减少、猜疑、被害妄想和关系妄想等症状。这些症状在过去两个月开始出现。尽管现有数据有限,但该病例报告为越来越多表明孔洞脑与精神病之间可能存在联系的研究做出了贡献。需要进一步研究来验证这种联系并探索潜在机制。对这种潜在关联的持续研究可能有助于指导未来的精神病诊断和治疗方案。