未经批准:Hutchinson-Gilford早衰综合征(HGPS)是一种超级病,致命的常染色体显性疾病。该疾病的发病机制是LMNA的突变,导致早衰蛋白在细胞中积累,损害正常的生理功能。脑卒中和短暂性脑缺血发作严重影响HGPS患儿的生存率和生活质量,虽然这方面的文献有限。本研究总结HGPS患儿脑卒中的临床表现及相关影像学特点,旨在提高儿科临床医师对本病的认识。
未经授权:两个孩子都有LMNA的从头杂合突变[c.1824C>T(p.G608G)]。案例1。在4岁的时候,孩子得了脑梗塞,表现为视力模糊和沟通障碍。头颅MRI在双侧额顶叶皮质观察到多个异常信号,双侧半卵中心,侧脑室,和深额叶和顶叶。头颅多异常白质信号:双侧颈内动脉狭窄伴基底动脉,双侧后交通动脉增厚。案例2。在8.5岁的时候,那个孩子出现了脑梗塞,表现为肌肉力量下降和喝水后窒息。头颅MRI显示双侧额叶小,双侧半卵中心和侧脑室有多个异常信号阴影。脑MRA显示双侧颈内动脉(C5-7)狭窄且厚度不均匀,左脑前动脉A1段比对侧窄。经过对症和支持治疗,两个孩子改善了。
未经证实:偏瘫和身体虚弱是HGPS患儿最常见的中风症状,接着是头痛,癫痫,构音障碍,精神病是一些儿童的主要表现。HGPS患儿的卒中主要是由脑供血不足引起的缺血性脑梗死。小儿脑梗死主要发生在大血管区,涉及所有血管区域,颈内动脉和大脑中动脉是最常见的积累。
UNASSIGNED: Hutchinson-Gilford Progeria Syndrome (HGPS) is a ultrarare, fatal autosomal dominant disorder. The pathogenesis of the disease is a mutation in LMNA, which leads to the accumulation of progerin in cells, impairing the normal physiological functions. Stroke and transient ischemic attack seriously affect the survival rate and quality of life of HGPS children, although the literature of this aspect is limited. This study summarizes the clinical manifestations and related imaging features of HGPS children with stroke to improve pediatric clinicians\' understanding of this disease.
UNASSIGNED: Both children have a de novo heterozygous mutation of LMNA [c.1824C > T ( p.G608G)]. Case 1. At the age of 4 years, the child had a cerebral infarction, which manifested as blurred vision and communication disturbance. Multiple abnormal signals were observed on the head MRI in the bilateral frontoparietal cortex, bilateral semiovale center, lateral ventricle, and deep frontal and parietal lobes. Multiple abnormal white matter signals on head MRA: bilateral internal carotid artery stenosis with basilar artery, and bilateral thickening of the posterior communicating artery. Case 2. At the age of 8.5 years, the child presented with cerebral infarction, which manifested as decreased muscle strength and choking after drinking water. MRI of the head showed that the bilateral frontal lobes were small with multiple abnormal signal shadows in the bilateral center of the semiovale and the lateral ventricle. Brain MRA revealed that the bilateral internal carotid arteries (C5-7) were narrow and uneven in thickness, and the A1 segment of the left anterior cerebral artery was narrower than the contralateral one. After symptomatic and supportive treatment, the two children improved.
UNASSIGNED: Hemiplegia and physical weakness are the most prevalent stroke symptoms in children with HGPS, followed by headache, epilepsy, dysarthria, and psychosis as the primary manifestation in some children. Stroke in children with HGPS is mostly ischemic cerebral infarction caused by an insufficient cerebral blood supply. Pediatric cerebral infarction mainly occurs in the large vascular area, involving all vascular areas, with the internal carotid artery and middle cerebral artery being the most commonly accumulated.