表现为家族性偏头痛的CADASIL家系的影像学特点
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摘要
目的探讨伴皮层下梗死和白质脑病的常染色体显性遗传性脑病(CADASIL)家系的核磁共振(MRI)特点,提高对本病脑内MRI表现的认识。方法记录该CADASIL家系先证者及其亲属的临床表现及影像学检查,并行NOTCH3基因检测。结果本组6例中5例检出NOTCH3基因第14外显子C2182T突变,其中3例与MRI初诊结果一致。头颅核磁共振显示双侧额叶皮层下与侧脑室旁白质内广泛融合的病灶,基本对称性分布的稍长T1T2信号,T2FLAIR呈高信号者4例;外囊T2WI呈高信号3例;基底节区、丘脑腔隙性梗死4例;脑干T2WI呈高信号2例;脑内微出血3例;未见双侧颞极白质病灶(O’Sullivin征)。结论 CADASIL病例MRI存在特征性的病变,MRI对该病的诊断有重要作用。
ObjectiveTo analysis the MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL), to improve the understanding of MRI manifestations of this disease.MethodsThe clinical manifestations, neuroimaging analysis and genetic analysis were performed in the CADASIL pedigree proband and his families.ResultsFive of six cases were confirmed with C2182 T mutation on exon 14 of the NOTCH3, of which three cases were diagnosed by MRI. Brain MRI findings included bilateral symmetric distributed confluent lesions in the subcortical and periventricular white matter in the frontal lobe, hypointensity on T1 WI and hyperintensity on both T2 WI and T2 FLAIR imaging in four cases. The external capsule was involved in three cases, with hyperintensity on T2 WI.Subcortical lacunar lesions(SLLs) were shown in three cases. Lacunar infarction in the basal ganglia and thalamus were presented in four cases. T2 WI hyperintensity at the brain stem was found in two cases. Cerebral microbleeds were revealed in three cases. There was no O'Sullivan sign in all the six cases.ConclusionsThere is characteristic change of MRI in CADASIL patients, which may play a very important role in screening these cases.
ObjectiveTo analysis the MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL), to improve the understanding of MRI manifestations of this disease.MethodsThe clinical manifestations, neuroimaging analysis and genetic analysis were performed in the CADASIL pedigree proband and his families.ResultsFive of six cases were confirmed with C2182 T mutation on exon 14 of the NOTCH3, of which three cases were diagnosed by MRI. Brain MRI findings included bilateral symmetric distributed confluent lesions in the subcortical and periventricular white matter in the frontal lobe, hypointensity on T1 WI and hyperintensity on both T2 WI and T2 FLAIR imaging in four cases. The external capsule was involved in three cases, with hyperintensity on T2 WI.Subcortical lacunar lesions(SLLs) were shown in three cases. Lacunar infarction in the basal ganglia and thalamus were presented in four cases. T2 WI hyperintensity at the brain stem was found in two cases. Cerebral microbleeds were revealed in three cases. There was no O'Sullivan sign in all the six cases.ConclusionsThere is characteristic change of MRI in CADASIL patients, which may play a very important role in screening these cases.
引文
[1]Chabriat H,Joutel A,Dichgans M,et al.CADASIL[J].Lancet Neurol,2009,8(7):643-653.
[2]Bianchi S,Dotti MT,Gallus GN,et al.First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL[J].Neurobiol Aging,2013,34(9):2234.
[3]Bianchi S,Rufa A,Ragno M,et al.High frequency of exon 10mutations in the NOTCH3 gene in Italian CADASIL families:phenotypic peculiarities[J].J Neurol,2010,257(6):1039-1042.
[4]Kanekar S,Poot JD.Neuroimaging of vascular dementia[J].Radiol Clin North Am,2014,52(2):383-401.
[5]金得辛,陈秀芸,张旭.伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病家系研究[J].中华内科杂志,2004,43(12):924-927.
[6]刘明霞,刘梦雨,娄听,等.常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病的MR特征[J].中国医学影像学杂志,2014,22(4):305-309.
[7]Wang Z,Yuan Y,Zhang W,et al.NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL[J].J Neurol Neurosurg Psychiatry,2011,82(5):534-539.
[8]袁云.CADASIL的诊断与鉴别诊断[J].中国神经精神疾病杂志,2007,33(1):641-643.
[9]Rinnoci V,Nannucci S,Valenti R,et al.Cerebral hemorrhages in CADASIL:report of four cases and a brief review[J].J Neurol Sci,2013,330(1-2):45-51.
[10]Chabriat H,Joutel A,Vahedi K,et al.CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy):clinical features and neuroimaging[J].Bull Acad Natl Med,2000,184(7):1523-1531
[11]Van Den Boom R,Lesnik Oberstein SA,van Duinen SG,et al.Subcortical lacunar lesions:an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy[J].Radiology,2002,224(3):791-796.
[12]O'Sullivan M,Jarosz JM,Martin RJ,et al.MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL[J].Neurology,2001,56(5):628-634.
[13]Chabriat H,Mrissa R,Levy C,et al.Brain stem MRI signal abnormalities in CADASIL[J].Stroke,1999,30(3):457-459.
[14]Dichgans M,Holtmannspotter M,Herzog J,et al.Cerebral microbleeds in CADASIL:a gradient-echo magnetic resonance imaging and autopsy study[J].Stroke,2002,33(1):67-71.
[15]王本国,林棉,杨楠,等.不同脑血管病患者脑微出血的患病率及其危险因素分析[J].中国神经精神疾病杂志,2011,37(5):303-306.
[16]Choi JC,Kang SY,Kang JH,et al.Intracerebral hemorrhages in CADASIL[J].Neurology,2006,67(11):2042-2044.
[17]Noh SM,Chung SJ,Kim KK,et al.Emotional disturbance in CADASIL:its impact on quality of life and caregiver burden[J].Cerebrovasc Dis,2014,37(3):188-194.
[2]Bianchi S,Dotti MT,Gallus GN,et al.First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL[J].Neurobiol Aging,2013,34(9):2234.
[3]Bianchi S,Rufa A,Ragno M,et al.High frequency of exon 10mutations in the NOTCH3 gene in Italian CADASIL families:phenotypic peculiarities[J].J Neurol,2010,257(6):1039-1042.
[4]Kanekar S,Poot JD.Neuroimaging of vascular dementia[J].Radiol Clin North Am,2014,52(2):383-401.
[5]金得辛,陈秀芸,张旭.伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病家系研究[J].中华内科杂志,2004,43(12):924-927.
[6]刘明霞,刘梦雨,娄听,等.常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病的MR特征[J].中国医学影像学杂志,2014,22(4):305-309.
[7]Wang Z,Yuan Y,Zhang W,et al.NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL[J].J Neurol Neurosurg Psychiatry,2011,82(5):534-539.
[8]袁云.CADASIL的诊断与鉴别诊断[J].中国神经精神疾病杂志,2007,33(1):641-643.
[9]Rinnoci V,Nannucci S,Valenti R,et al.Cerebral hemorrhages in CADASIL:report of four cases and a brief review[J].J Neurol Sci,2013,330(1-2):45-51.
[10]Chabriat H,Joutel A,Vahedi K,et al.CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy):clinical features and neuroimaging[J].Bull Acad Natl Med,2000,184(7):1523-1531
[11]Van Den Boom R,Lesnik Oberstein SA,van Duinen SG,et al.Subcortical lacunar lesions:an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy[J].Radiology,2002,224(3):791-796.
[12]O'Sullivan M,Jarosz JM,Martin RJ,et al.MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL[J].Neurology,2001,56(5):628-634.
[13]Chabriat H,Mrissa R,Levy C,et al.Brain stem MRI signal abnormalities in CADASIL[J].Stroke,1999,30(3):457-459.
[14]Dichgans M,Holtmannspotter M,Herzog J,et al.Cerebral microbleeds in CADASIL:a gradient-echo magnetic resonance imaging and autopsy study[J].Stroke,2002,33(1):67-71.
[15]王本国,林棉,杨楠,等.不同脑血管病患者脑微出血的患病率及其危险因素分析[J].中国神经精神疾病杂志,2011,37(5):303-306.
[16]Choi JC,Kang SY,Kang JH,et al.Intracerebral hemorrhages in CADASIL[J].Neurology,2006,67(11):2042-2044.
[17]Noh SM,Chung SJ,Kim KK,et al.Emotional disturbance in CADASIL:its impact on quality of life and caregiver burden[J].Cerebrovasc Dis,2014,37(3):188-194.