目的:对一例临床诊断为伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL, OMIM#125310)的学龄期男童及其家系成员的临床...目的:对一例临床诊断为伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL, OMIM#125310)的学龄期男童及其家系成员的临床资料进行整理、分析,以期丰富该病临床资料。方法:收集2023年青岛大学附属医院儿童神经内科临床诊断为CADASIL的一例患者及其家系成员的临床及影像学资料,并采用二代高通量测序(NGS)对先证者进行检测。结果:先证者为8岁学龄期男童,有头痛病史、颅脑MRI显示白质异常信号,其姐姐、父亲均有头痛病史及脑白质异常信号且其父亲有脑萎缩表现。先证者全外显子检测未发现NOCH3及HTRIA基因变异。结论:对有明确家族史的偏头痛样发作患儿,且颅脑MRI显示颞极或外囊白质异常信号,要警惕CADASIL,需进行基因检测和(或)皮肤活检,如二者均未发现异常,可诊断为类CADASIL (CACASIL-Like)病,应定期进行随访、追踪,寻找潜在的病因。Objective: We organized and analyzed the clinical data of a school-age boy and his family members who were clinically diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL, OMIM#125310), to provide a scientific basis for the diagnosis of CADASIL. Methods: The clinical and brain MRI data of patient and his family members who were clinically diagnosed as CADASIL by the Pediatric Neurology of the Affiliated Hospital of Qingdao University in 2023 were collected, and the proband was detected by next-generation sequencing (NGS). Results: The proband was an 8-year-old schoolboy with a history of migraine, and brain MRI revealed T2 white matter hyperintensity (WMHs). His sister and father had a history of migraine and significant white matter hyperintensities on brain MRI, and his father had brain atrophy. No variants were found in NOCH3 and HTRIA genes in the proband by whole exon sequencing. Conclusion: For children with a clear family history of migraine like attacks and abnormal white matter signals on cranial MRI, CADASIL should be alerted and genetic testing and/or skin biopsy should be performed. If no abnormalities are found in both, it can be diagnosed as CACASIL-like disease, and regular follow-up and tracking should be conducted to search for potential causes.展开更多
目的对一临床诊断为伴有皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(Cerebral au tosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)的患者及其家系成员的临床资料进行分析,并行Notch...目的对一临床诊断为伴有皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(Cerebral au tosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)的患者及其家系成员的临床资料进行分析,并行Notch3基因突变及皮肤组织病理学检测,为该病确诊提供科学依据。方法收集2012年被山西医科大学第一医院神经内科临床诊断为CADASIL的一例患者及其家系成员的临床及影像学资料,并行CADASIL量表评分,对评分≥15分的先证者及其大姐分别留血样行Notch3基因突变检测,并分别取左上肢皮肤组织,进行活检。结果先证者及其大姐均有多次卒中样发作。二者查体均存在轻度认知功能障碍、球麻痹及双侧锥体束征。头颅MRI提示大脑半球多发腔隙性梗死及白质病变。CADASIL量表评分均为17分。Notch3基因检测结果:除1、17、21-23和33号外显子未行检测外,其余27个外显子均未发现突变。皮肤活检未发现颗粒样嗜锇物质(Granular elecgtron dense osmiophilic material,GOM)的沉积。结论对临床诊断为CADASIL患者,需进行皮肤活检及基因检测确诊。如二者均未发现异常,可将这类患者诊断为类CADASIL(CADA SIL-Like)病,应进一步追踪并寻找病因。展开更多
文摘目的:对一例临床诊断为伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL, OMIM#125310)的学龄期男童及其家系成员的临床资料进行整理、分析,以期丰富该病临床资料。方法:收集2023年青岛大学附属医院儿童神经内科临床诊断为CADASIL的一例患者及其家系成员的临床及影像学资料,并采用二代高通量测序(NGS)对先证者进行检测。结果:先证者为8岁学龄期男童,有头痛病史、颅脑MRI显示白质异常信号,其姐姐、父亲均有头痛病史及脑白质异常信号且其父亲有脑萎缩表现。先证者全外显子检测未发现NOCH3及HTRIA基因变异。结论:对有明确家族史的偏头痛样发作患儿,且颅脑MRI显示颞极或外囊白质异常信号,要警惕CADASIL,需进行基因检测和(或)皮肤活检,如二者均未发现异常,可诊断为类CADASIL (CACASIL-Like)病,应定期进行随访、追踪,寻找潜在的病因。Objective: We organized and analyzed the clinical data of a school-age boy and his family members who were clinically diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL, OMIM#125310), to provide a scientific basis for the diagnosis of CADASIL. Methods: The clinical and brain MRI data of patient and his family members who were clinically diagnosed as CADASIL by the Pediatric Neurology of the Affiliated Hospital of Qingdao University in 2023 were collected, and the proband was detected by next-generation sequencing (NGS). Results: The proband was an 8-year-old schoolboy with a history of migraine, and brain MRI revealed T2 white matter hyperintensity (WMHs). His sister and father had a history of migraine and significant white matter hyperintensities on brain MRI, and his father had brain atrophy. No variants were found in NOCH3 and HTRIA genes in the proband by whole exon sequencing. Conclusion: For children with a clear family history of migraine like attacks and abnormal white matter signals on cranial MRI, CADASIL should be alerted and genetic testing and/or skin biopsy should be performed. If no abnormalities are found in both, it can be diagnosed as CACASIL-like disease, and regular follow-up and tracking should be conducted to search for potential causes.
文摘目的对一临床诊断为伴有皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(Cerebral au tosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)的患者及其家系成员的临床资料进行分析,并行Notch3基因突变及皮肤组织病理学检测,为该病确诊提供科学依据。方法收集2012年被山西医科大学第一医院神经内科临床诊断为CADASIL的一例患者及其家系成员的临床及影像学资料,并行CADASIL量表评分,对评分≥15分的先证者及其大姐分别留血样行Notch3基因突变检测,并分别取左上肢皮肤组织,进行活检。结果先证者及其大姐均有多次卒中样发作。二者查体均存在轻度认知功能障碍、球麻痹及双侧锥体束征。头颅MRI提示大脑半球多发腔隙性梗死及白质病变。CADASIL量表评分均为17分。Notch3基因检测结果:除1、17、21-23和33号外显子未行检测外,其余27个外显子均未发现突变。皮肤活检未发现颗粒样嗜锇物质(Granular elecgtron dense osmiophilic material,GOM)的沉积。结论对临床诊断为CADASIL患者,需进行皮肤活检及基因检测确诊。如二者均未发现异常,可将这类患者诊断为类CADASIL(CADA SIL-Like)病,应进一步追踪并寻找病因。
