期刊名称：International Journal of Early Childhood Special Education
电子版ISSN：1308-5581
出版年度：2022
卷号：14
期号：2
页码：3245-3247
DOI：10.9756/INT-JECSE/V14I2.328
语种：English
出版社：International Journal of Early Childhood Special Education
摘要：Porencephaly is an extremely rare neurological disease characterized by the presence of solitary or multiple degenerative cerebrospinal fluid (CSF) cavities within the brain parenchyma2. This condition is probably caused by vascular occlusion resulting from an insult during foetal development or an injury occurring later in life. Its diagnosis depends on demonstrating a well-defined CSF-filled space-occupying lesion communicating with ventricles on CT scan or MRI of brain1.They are often associated with other malformations of the brain, including microcephaly, abnormal patterns of adjacent gyri and encephalocele. Affected infants tend to have many problems including intellectual disability, spastic hemiparesis or quadriparesis, optic atrophy and seizures. Mutations in the COL4A1 and COL4A2 genes have been described in cases of familial porencephaly.1 The rarity of occurrence and varied presentation of such a lesion present a challenge to clinicians. Little is known about the pathogenesis and appropriate management of porencephalic cysts. The prognosis of porencephaly depends on the location and extent of the cyst. The best way to contain the increase in incidence of congenital porencephaly is genetic counselling and prenatal testing in affected individuals and those at risk.7.
