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引用次数: 0
摘要
猪软化症(Incontinentia pigmenti,IP)是一种罕见的 X 连锁显性、多系统遗传性疾病,其特征是不断发展的皮肤病变,几乎只发生在女性身上。其他表现通常涉及胚胎衍生的外胚层组织,包括中枢神经系统(CNS)、眼睛、头发、牙齿和指甲。IP 与多种神经系统异常有关,其中有几种可能与严重的发病率有关。在新生儿期,虽然病理生理学尚不清楚,但炎症性微血管病变可导致非血管区域缺血性中风和急性播散性脑脊髓炎,造成严重的慢性神经系统后遗症,如癫痫、脑瘫和智力障碍。其他神经影像学检查结果可能包括脑室周围和皮层下白质异常、大脑和小脑发育不良。随着时间的推移,表型的改进、IKBKG 致病变体的鉴定、临床诊断标准的建立和完善以及促进多学科治疗的管理指南的制定都取得了进展。由于 IP 常累及中枢神经系统,神经科医生在 IP 患者的整个生命周期的治疗中都扮演着至关重要的角色。
Incontinentia pigmenti (IP) is a rare X-linked dominant, multi-system genetic disorder characterized by evolving skin lesions that occurs almost exclusively in females. Additional manifestations most often involve embryologically-derived ectodermal tissues including the central nervous system (CNS), eyes, hair, teeth and nails. IP is associated with a wide range of neurologic abnormalities, several of which can be associated with significant morbidity. In the neonatal period, while the pathophysiology is poorly understood, inflammatory microvascular changes can lead to ischemic strokes in non-vascular territories and acute disseminated encephalomyelitis, resulting in serious chronic neurologic sequelae such as epilepsy, cerebral palsy and intellectual disability. Additional neuroimaging findings may include periventricular and subcortical white matter abnormalities and cerebral as well as cerebellar dysgenesis. Advancements over time have allowed for improved phenotyping, identification of the causative IKBKG pathogenic variant, creation and refinement of clinical diagnostic criteria and the development of management guidelines which promote multi-disciplinary care. Due to frequent CNS involvement, neurologists play a critical role in the treatment of individuals with IP throughout the lifespan.
期刊介绍:
Seminars in Pediatric Neurology is a topical journal that focuses on subjects of current importance in the field of pediatric neurology. The journal is devoted to making the status of such topics and the results of new investigations readily available to the practicing physician. Seminars in Pediatric Neurology is of special interest to pediatric neurologists, pediatric neuropathologists, behavioral pediatricians, and neurologists who treat all ages.