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:总结1例TUBGCP2基因突变患儿的临床及基因变异特点。方法:回顾性分析在青岛大学附属医院儿童神经内科明确诊断的1例TUBGCP2基因突变导致的以面瘫及肢体偏瘫起病,伴频繁癫痫发作为主要表现的患儿临床资料。结果:女性患儿,7月龄,以...目的:总结1例TUBGCP2基因突变患儿的临床及基因变异特点。方法:回顾性分析在青岛大学附属医院儿童神经内科明确诊断的1例TUBGCP2基因突变导致的以面瘫及肢体偏瘫起病,伴频繁癫痫发作为主要表现的患儿临床资料。结果:女性患儿,7月龄,以频繁癫痫发作(局灶性发作)、后出现面瘫及肢体偏瘫为主要表现;颅脑磁共振成像(MRI)示双侧大脑半球局部脑回增粗并内移向白质区域延伸,枕大池扩大。医学全外显子测序分析提示TUBGCP2基因新生杂合变异,变异位点为c.1598A > T (p.E553V)、c480G > C (p.M160I),中国内地尚无TUBGCP2基因双等位杂合变异患儿报道。予抗癫痫药物治疗后未再出现抽搐发作,但患儿存在小头畸形,运动及认知发育与同龄儿大致相符。结论:癫痫发作、偏瘫的患儿,需考虑有该病的可能,应及时诊治。Objective: To summarize the clinical and genetic variation characteristics of a child with TUBGCP2 gene mutations. Methods: The clinical data of one child with facial paralysis and limb hemiplegia with frequent seizures as the main manifestations caused by TUBGCP2 gene mutations in the Department of Pediatric Neurology of the Affiliated Hospital of Qingdao University were retrospectively analyzed. Results: A 7-month-old female child had frequent seizures (focal seizures), followed by facial paralysis and limb hemiplegia. Magnetic resonance imaging (MRI) of the brain showed that the local gyrus of both cerebral hemispheres was thickened and moved inward to the white matter region, and the cisterna magnum was enlarged. Medical whole exome sequencing analysis showed that the TUBGCP2 gene was a nascent heterozygous variant, and the mutation sites were c.1598A > T (p.E553V) and c480G > C (p.M160I). No cases of children with biallelic compound heterozygous variants in the TUBGCP2 gene have been reported in China's Mainland. No further seizures occurred after antiepileptic drug therapy, but the child had microcephaly and motor and cognitive development was broadly consistent with that of children of the same age. Conclusions: Children with seizures and hemiplegia should consider the possibility of this disease and be diagnosed and treated in time.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:总结1例TUBGCP2基因突变患儿的临床及基因变异特点。方法:回顾性分析在青岛大学附属医院儿童神经内科明确诊断的1例TUBGCP2基因突变导致的以面瘫及肢体偏瘫起病,伴频繁癫痫发作为主要表现的患儿临床资料。结果:女性患儿,7月龄,以频繁癫痫发作(局灶性发作)、后出现面瘫及肢体偏瘫为主要表现;颅脑磁共振成像(MRI)示双侧大脑半球局部脑回增粗并内移向白质区域延伸,枕大池扩大。医学全外显子测序分析提示TUBGCP2基因新生杂合变异,变异位点为c.1598A > T (p.E553V)、c480G > C (p.M160I),中国内地尚无TUBGCP2基因双等位杂合变异患儿报道。予抗癫痫药物治疗后未再出现抽搐发作,但患儿存在小头畸形,运动及认知发育与同龄儿大致相符。结论:癫痫发作、偏瘫的患儿,需考虑有该病的可能,应及时诊治。Objective: To summarize the clinical and genetic variation characteristics of a child with TUBGCP2 gene mutations. Methods: The clinical data of one child with facial paralysis and limb hemiplegia with frequent seizures as the main manifestations caused by TUBGCP2 gene mutations in the Department of Pediatric Neurology of the Affiliated Hospital of Qingdao University were retrospectively analyzed. Results: A 7-month-old female child had frequent seizures (focal seizures), followed by facial paralysis and limb hemiplegia. Magnetic resonance imaging (MRI) of the brain showed that the local gyrus of both cerebral hemispheres was thickened and moved inward to the white matter region, and the cisterna magnum was enlarged. Medical whole exome sequencing analysis showed that the TUBGCP2 gene was a nascent heterozygous variant, and the mutation sites were c.1598A > T (p.E553V) and c480G > C (p.M160I). No cases of children with biallelic compound heterozygous variants in the TUBGCP2 gene have been reported in China's Mainland. No further seizures occurred after antiepileptic drug therapy, but the child had microcephaly and motor and cognitive development was broadly consistent with that of children of the same age. Conclusions: Children with seizures and hemiplegia should consider the possibility of this disease and be diagnosed and treated in time.
