伴钙化与囊变的脑白质病（1eukoencephalopathy，brain calcifications and cysts，LCC，义称为Labrune综合征）于1996年山Labrune等首次报道^[1]。LCC的典，魁影像学表现为“三联征”，包括大腩深部核团和白质的钙化、广泛的脑白质变...伴钙化与囊变的脑白质病（1eukoencephalopathy，brain calcifications and cysts，LCC，义称为Labrune综合征）于1996年山Labrune等首次报道^[1]。LCC的典，魁影像学表现为“三联征”，包括大腩深部核团和白质的钙化、广泛的脑白质变性和多发脑内囊肿。展开更多
目的分析临床确诊的伴钙化与囊变的脑白质病(leukoencephalopathy,cerebal calcifications and cysts,LCC)患者的影像学与病理表现特点。方法回顾性分析临床经脑穿确诊的2例LCC患者,影像学表现与病理特点。结果1例LCC患者CT表现为双侧...目的分析临床确诊的伴钙化与囊变的脑白质病(leukoencephalopathy,cerebal calcifications and cysts,LCC)患者的影像学与病理表现特点。方法回顾性分析临床经脑穿确诊的2例LCC患者,影像学表现与病理特点。结果1例LCC患者CT表现为双侧齿状核、基底节区及丘脑多发钙化,MRI表现为左侧额叶囊变;另1例CT表现为双侧基底节区、右侧放射冠区钙化,MRI为左侧顶叶囊变。2例MRI均表现双侧大脑半球脑白质弥漫性信号异常,SWI表现为脑白质多发低信号,1例增强扫描可见白质区多发斑点状强化,囊壁可见结节样强化。病理学表现为囊性病变囊壁血管呈血管瘤样改变,伴玻璃样变性、钙化及含铁血黄素沉积;脑组织变性伴胶质增生、Rosenthal纤维形成及多发出血。结论LCC影像学表现具有深部核团钙化、脑多发囊性变、多发出血和脑白质弥漫性异常信号的影像学特点,病理基础主要为脑小血管病变,为LCC的临床诊断提供了影像学及病理依据。展开更多
伴钙化与囊变的脑白质病(leukoencephalopathy,brain calcifications and cysts,LCC)临床较少见,发病机制尚未完全阐明,病理特征包括病变区脑组织小血管扩张、微血管出现血管瘤样重排、血管和脑实质发生钙化、胶质细胞增生等。本文结合1...伴钙化与囊变的脑白质病(leukoencephalopathy,brain calcifications and cysts,LCC)临床较少见,发病机制尚未完全阐明,病理特征包括病变区脑组织小血管扩张、微血管出现血管瘤样重排、血管和脑实质发生钙化、胶质细胞增生等。本文结合1例LCC患者的诊疗过程,总结其临床表现及MRI影像特征。患者,女,43岁,以'右侧肢体无力,伴头痛、恶心进行性加重3个月'为主诉于2015年6月10日收入本院。患者3个月前无明显诱因出现右侧下肢无力,展开更多
Introduction. Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease with autosomal recessive inheritance. Materials and methods. Two br others born from a consanguineous marriage, presenting wit...Introduction. Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease with autosomal recessive inheritance. Materials and methods. Two br others born from a consanguineous marriage, presenting with the phenotype of the disease, their parents, brothers and sisters were examined. Magnetic resonance imaging of the brain was performed for the two patients. Sequence analysis of ML C1 (GenBank mRNA accession no. NM 015166) was performed for the patients using i ntronic primers. PCR restriction fragment length polymorphism analysis was done in patients, their parents and in 100 Lebanese controls in order to exclude gene polymorphism.Results. The clinical features were characteristic of the disease, consisting of an early-onset macrocephaly followed by slowly progressive ataxia , pyramidal tract involvement and epileptic seizures. In one patient, the clinic al manifestations were aggravated by a trivial brain trauma. In his brother and in one female cousin, a status epilepticus was precipitated by a febrile syndrom e. The diffuse cerebral white matter lesions and the subcortical temporo-polar and frontal cysts, best seen on MRI,allowed making the diagnosis.Molecular genet ics revealed a new mutation involving the MLC1 gene (263G→T, exon 3). As a cons equence, it affects the second transmembrane domain predict (G88V) of the MLC pr otein (protein sequence NP 055981). The mutation was confirmed by PCR restrictio n fragment length polymorphism analysis. Conclusion. Megalencephalic leucoenceph alopathy with subcortical cysts may be individualized on clinical and radiologic al basis and confirmed by molecular genetics. In this Lebanese family, a new mut ation of the MLC1 gene is reported.展开更多
钙化伴囊变的脑白质病（1eukoencephalopathy with cerebral calcifications and cysts，LCC）是以影像学表现为脑白质变性、钙化、囊性变为突出特征的临床综合征。LCC于1996年由Labrune等最早报道，之后世界各国均有散在报道。近年来...钙化伴囊变的脑白质病（1eukoencephalopathy with cerebral calcifications and cysts，LCC）是以影像学表现为脑白质变性、钙化、囊性变为突出特征的临床综合征。LCC于1996年由Labrune等最早报道，之后世界各国均有散在报道。近年来我院诊治2例LCC，现报道如下。展开更多
伴钙化和囊变的脑视网膜微血管病（cerebroretinal microangiopathy with calcifications and cysts，CRMCC）包括Coatsplus综合征和伴钙化与囊变的脑白质病（leukoencephalopathy with calcifications and cysts，LCC）两种疾病，这一...伴钙化和囊变的脑视网膜微血管病（cerebroretinal microangiopathy with calcifications and cysts，CRMCC）包括Coatsplus综合征和伴钙化与囊变的脑白质病（leukoencephalopathy with calcifications and cysts，LCC）两种疾病，这一类疾病的典型特点为颅内同时或相继出现广泛钙化、多发巨大囊变和脑白质病变。该类疾病罕见，疾病表现涉及多个系统，目前病因未明。展开更多
文摘伴钙化与囊变的脑白质病（1eukoencephalopathy，brain calcifications and cysts，LCC，义称为Labrune综合征）于1996年山Labrune等首次报道^[1]。LCC的典，魁影像学表现为“三联征”，包括大腩深部核团和白质的钙化、广泛的脑白质变性和多发脑内囊肿。
文摘目的分析临床确诊的伴钙化与囊变的脑白质病(leukoencephalopathy,cerebal calcifications and cysts,LCC)患者的影像学与病理表现特点。方法回顾性分析临床经脑穿确诊的2例LCC患者,影像学表现与病理特点。结果1例LCC患者CT表现为双侧齿状核、基底节区及丘脑多发钙化,MRI表现为左侧额叶囊变;另1例CT表现为双侧基底节区、右侧放射冠区钙化,MRI为左侧顶叶囊变。2例MRI均表现双侧大脑半球脑白质弥漫性信号异常,SWI表现为脑白质多发低信号,1例增强扫描可见白质区多发斑点状强化,囊壁可见结节样强化。病理学表现为囊性病变囊壁血管呈血管瘤样改变,伴玻璃样变性、钙化及含铁血黄素沉积;脑组织变性伴胶质增生、Rosenthal纤维形成及多发出血。结论LCC影像学表现具有深部核团钙化、脑多发囊性变、多发出血和脑白质弥漫性异常信号的影像学特点,病理基础主要为脑小血管病变,为LCC的临床诊断提供了影像学及病理依据。
文摘伴钙化与囊变的脑白质病(leukoencephalopathy,brain calcifications and cysts,LCC)临床较少见,发病机制尚未完全阐明,病理特征包括病变区脑组织小血管扩张、微血管出现血管瘤样重排、血管和脑实质发生钙化、胶质细胞增生等。本文结合1例LCC患者的诊疗过程,总结其临床表现及MRI影像特征。患者,女,43岁,以'右侧肢体无力,伴头痛、恶心进行性加重3个月'为主诉于2015年6月10日收入本院。患者3个月前无明显诱因出现右侧下肢无力,
文摘Introduction. Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease with autosomal recessive inheritance. Materials and methods. Two br others born from a consanguineous marriage, presenting with the phenotype of the disease, their parents, brothers and sisters were examined. Magnetic resonance imaging of the brain was performed for the two patients. Sequence analysis of ML C1 (GenBank mRNA accession no. NM 015166) was performed for the patients using i ntronic primers. PCR restriction fragment length polymorphism analysis was done in patients, their parents and in 100 Lebanese controls in order to exclude gene polymorphism.Results. The clinical features were characteristic of the disease, consisting of an early-onset macrocephaly followed by slowly progressive ataxia , pyramidal tract involvement and epileptic seizures. In one patient, the clinic al manifestations were aggravated by a trivial brain trauma. In his brother and in one female cousin, a status epilepticus was precipitated by a febrile syndrom e. The diffuse cerebral white matter lesions and the subcortical temporo-polar and frontal cysts, best seen on MRI,allowed making the diagnosis.Molecular genet ics revealed a new mutation involving the MLC1 gene (263G→T, exon 3). As a cons equence, it affects the second transmembrane domain predict (G88V) of the MLC pr otein (protein sequence NP 055981). The mutation was confirmed by PCR restrictio n fragment length polymorphism analysis. Conclusion. Megalencephalic leucoenceph alopathy with subcortical cysts may be individualized on clinical and radiologic al basis and confirmed by molecular genetics. In this Lebanese family, a new mut ation of the MLC1 gene is reported.
文摘钙化伴囊变的脑白质病（1eukoencephalopathy with cerebral calcifications and cysts，LCC）是以影像学表现为脑白质变性、钙化、囊性变为突出特征的临床综合征。LCC于1996年由Labrune等最早报道，之后世界各国均有散在报道。近年来我院诊治2例LCC，现报道如下。
文摘伴钙化和囊变的脑视网膜微血管病（cerebroretinal microangiopathy with calcifications and cysts，CRMCC）包括Coatsplus综合征和伴钙化与囊变的脑白质病（leukoencephalopathy with calcifications and cysts，LCC）两种疾病，这一类疾病的典型特点为颅内同时或相继出现广泛钙化、多发巨大囊变和脑白质病变。该类疾病罕见，疾病表现涉及多个系统，目前病因未明。
