遗传性弥漫性白质脑病合并轴索球样变的临床和影像学特点(附1例报告)
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摘要
目的探讨遗传性弥漫性白质脑病合并轴索球样变(HDLS)的临床和影像学特点。方法对1例HDLS患者的临床资料进行回顾性分析。结果本例患者为中年男性,表现为快速进展的运动功能障碍、行为及认知改变,头颅MRI表现为双侧额颞叶白质病变、DWI像双侧脑室旁多发点状高信号。基因检测结果显示,集落刺激因子1受体基因突变。患者儿子检测到相同突变基因,尚未表现出相应临床症状。结论 HDLS为罕见疾病,临床表现多样,影像学无特异性,临床医师缺乏认识,容易误诊,遗传学检测是诊断的首选方法。
Objective To investigate the clinical and imaging features of hereditary diffuse leukoencephalopathy with axonal spheroids( HDLS). Methods The clinical data of one cases of HDLS was retrospectively analyzed.Results The proband was middle-aged man,presented rapidly progressive motor dysfunction,behavioral and cognitive changes. Brain MRI showed bilateral fronto-temporal white matter lesions,multifocal high signal in bilateral periventricular in diffuse weight imaging. DNA analysis disclosed a mutation in exon 18 of the colony stimulating factor 1 receptor. Conclusion HDLS is an rare disease with diverse clinical manifestations and no imaging specificity. Clinicians lack knowledge and are prone to misdiagnosis. Genetic testing is the preferred method of diagnosis.
Objective To investigate the clinical and imaging features of hereditary diffuse leukoencephalopathy with axonal spheroids( HDLS). Methods The clinical data of one cases of HDLS was retrospectively analyzed.Results The proband was middle-aged man,presented rapidly progressive motor dysfunction,behavioral and cognitive changes. Brain MRI showed bilateral fronto-temporal white matter lesions,multifocal high signal in bilateral periventricular in diffuse weight imaging. DNA analysis disclosed a mutation in exon 18 of the colony stimulating factor 1 receptor. Conclusion HDLS is an rare disease with diverse clinical manifestations and no imaging specificity. Clinicians lack knowledge and are prone to misdiagnosis. Genetic testing is the preferred method of diagnosis.
引文
[1]Axelsson R,Roytta M,Sourander P,et al.Hereditary diffuse leukoencephalopathy with spheroids[J].Acta Psychiatr Scand Suppl,1984,314:1.
[2]Rademakers R,Baker M,Nicholson AM,et al.Mutations in the colony stimulating factor 1 receptor(CSF1R)gene cause hereditary diffuse leukoencephalopathy with spheroids[J].Nat Genet,2011,44:200.
[3]Guerreiro R,Kara E,Le Ber I,et al.Genetic analysis of inherited leukodystrophies:genotype-phenotype correlations in the CSF1R gene[J].JAMA Neurol,2013,70:875.
[4]程欣欣,申玮,邹海强,等.一个遗传性弥漫性脑白质病变合并球状轴索家系的CSFIR基因突变分析[J].中华医学遗传学杂志,2015,32:208.
[5]Lan MY,Liu JS,Chang CC,et al.Clinicopathologic and genetic studies of 2 patients with hereditary diffuse leukoencephalopathy with axonal spheroids[J].Alzheimer Dis Assoc Disord,2016,30:73.
[6]Sundal C,Baker M,Karrenbauer V,et al.Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis[J].Eur J Neurol,2015,22:328.
[7]Pridans C,Sauter KA,Baer K,et al.CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function[J].Sci Rep,2013,3:3013.
[8]Stanley ER,Berg KL,Einstein DB,et al.Biology and action of colony—stimulating factor-1[J].Mol Reprod Dev,1997,46:4.
[9]Riku Y,Ando T,Goto Y,et al.Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids[J].J Neuropathol Exp Neurol,2014,73:1183.
[10]Jin C,Washimi Y,Yoshida K,et al.Characterization of spheroids in hereditary diffuse leukoencephalopathy with axonal spheroids[J].J Neurol Sci,2015,352:74.
[11]Baba Y,Ghetti B,Baker MC,et al.Hereditary diffuse leukoencephalopathy with spheroids:clinical,pathologic and genetic studies of a new kindred[J].Acta Neuropathol,2006,111:300.
[12]Ikeda S.Hereditary diffuse leukoencephalopathy with axonal spheroids(HDLS):its clinical concept and the review of the previously reported cases[J].Rinsho Shinkeigaku,2012,52:1383.
[13]Sundal C,Lash J,Aasly J,et al.Hereditary diffuse leukoencephalopathy with axonal spheroids(HDLS):a misdiagnosed disease entity[J].J Neurol Sci,2012,314:130.
[14]Ahmed R,Guerreiro R,Rohrer JD,et al.A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids[J].J Neurol Sci,2013,332:141.
[15]Sundal C,van Gerpen JA,Nicholson AM,et al.MRI characteristics and scoring in HDLS due to CSF1R gene mutations[J].Neurology,2012,79:566.
[16]Terasawa Y,Osaki Y,Kawarai T,et al.Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids[J].J Neurol Sci,2013,335:213.
[17]Bender B,Klose U,Lindig T,et al.Imaging features in conventional MRI,spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids(HDLS)[J].J Neurol,2014,261:2351.
[2]Rademakers R,Baker M,Nicholson AM,et al.Mutations in the colony stimulating factor 1 receptor(CSF1R)gene cause hereditary diffuse leukoencephalopathy with spheroids[J].Nat Genet,2011,44:200.
[3]Guerreiro R,Kara E,Le Ber I,et al.Genetic analysis of inherited leukodystrophies:genotype-phenotype correlations in the CSF1R gene[J].JAMA Neurol,2013,70:875.
[4]程欣欣,申玮,邹海强,等.一个遗传性弥漫性脑白质病变合并球状轴索家系的CSFIR基因突变分析[J].中华医学遗传学杂志,2015,32:208.
[5]Lan MY,Liu JS,Chang CC,et al.Clinicopathologic and genetic studies of 2 patients with hereditary diffuse leukoencephalopathy with axonal spheroids[J].Alzheimer Dis Assoc Disord,2016,30:73.
[6]Sundal C,Baker M,Karrenbauer V,et al.Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis[J].Eur J Neurol,2015,22:328.
[7]Pridans C,Sauter KA,Baer K,et al.CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function[J].Sci Rep,2013,3:3013.
[8]Stanley ER,Berg KL,Einstein DB,et al.Biology and action of colony—stimulating factor-1[J].Mol Reprod Dev,1997,46:4.
[9]Riku Y,Ando T,Goto Y,et al.Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids[J].J Neuropathol Exp Neurol,2014,73:1183.
[10]Jin C,Washimi Y,Yoshida K,et al.Characterization of spheroids in hereditary diffuse leukoencephalopathy with axonal spheroids[J].J Neurol Sci,2015,352:74.
[11]Baba Y,Ghetti B,Baker MC,et al.Hereditary diffuse leukoencephalopathy with spheroids:clinical,pathologic and genetic studies of a new kindred[J].Acta Neuropathol,2006,111:300.
[12]Ikeda S.Hereditary diffuse leukoencephalopathy with axonal spheroids(HDLS):its clinical concept and the review of the previously reported cases[J].Rinsho Shinkeigaku,2012,52:1383.
[13]Sundal C,Lash J,Aasly J,et al.Hereditary diffuse leukoencephalopathy with axonal spheroids(HDLS):a misdiagnosed disease entity[J].J Neurol Sci,2012,314:130.
[14]Ahmed R,Guerreiro R,Rohrer JD,et al.A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids[J].J Neurol Sci,2013,332:141.
[15]Sundal C,van Gerpen JA,Nicholson AM,et al.MRI characteristics and scoring in HDLS due to CSF1R gene mutations[J].Neurology,2012,79:566.
[16]Terasawa Y,Osaki Y,Kawarai T,et al.Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids[J].J Neurol Sci,2013,335:213.
[17]Bender B,Klose U,Lindig T,et al.Imaging features in conventional MRI,spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids(HDLS)[J].J Neurol,2014,261:2351.