Fahr病的临床分析
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摘要
目的
分析Fahr病(特发性家族性脑血管亚铁钙沉着症)的发病机制、临床特点、诊断和治疗方法。
方法
对我院收治的7例Fahr病患者的临床资料进行回顾性分析。分析总结他们的病因、临床表现、家族史、辅助检查结果、诊断、鉴别诊断、治疗及预后情况。
结果
Fahr病是一种罕见的神经系统疾病,起病隐匿,进行性发展。临床症状多样,主要症状为智力障碍、进行性精神发育迟滞、痴呆、发音困难、严重发育障碍、癫痫,锥体外系症状(强直、震颤、面具脸、肌张力障碍、舞蹈病、扭转痉挛、手足徐动等),锥体束损害体征(肢体无力、肌张力增高、腱反射亢进等),共济失调,构音障碍等;颅脑CT检查是诊断Fahr病的重要手段,可见颅内广泛钙化灶,本组7例患者中均有双侧基底节对称性的钙化灶,其中伴有小脑钙化4例,丘脑钙化1例,皮层钙化3例,脑干钙化3例;7例患者血清钙、磷、镁、FT3、FT4、TSH、PTH均正常,血清寄生虫全套均示阴性;7例患者均曾被误诊;本病无特殊治疗,主要是对症治疗及营养脑细胞治疗。
结论
Fahr病的CT特征是双侧基底节、尾状核、豆状核、丘脑、脑干及小脑齿状核对称性钙化,而血清中钙、磷、镁、促甲状腺激素及甲状旁腺激素水平正常则是Fahr病与其他疾病鉴别的关键指标。
Objective: To analyze the nosogenesis, clinical characteristics, diagnosis and treatment of Fahr disease
Methods: The clinical data of 7 cases with Fahr disease were analyzed, including the pathogeny, clinical manifestations, family history, imaging characteristic, laboratory investigation, diagnosis, differential diagnosis, treatment methods and outcome.
Results: Fahr disease is a rare and slowly progressive disorder manifested by amentia, progressive mental retardation, dementia, dysphonia, severe eccyliosis, epilepsy, ectrapyramidal disorders ( rigidity, tremor, mask face, dysmyotonia, chorea, torsion spasm, athetosis ), pyramid sign ( weakness, hyermyotonia, tendon hyperreflexia ), ataxia, anarthria. CT scan shows encephalic general calcifications and CT scan plays an important role in the right diagnosis. All 7 Fahr disease cases had bilateral and symmetric calcifications of the basal ganglia, 4 of 7 had calcifications of the cerebellum, 1 of 7 had calcifications of the thalamus, 3 of 7 had calcifications of the cortex, 3 of 7 had calcifications of the brainstem,. All 7 Fahr disease cases had normal level of serum calcium, phosphorus, magnesium, FT3, FT4, thyrotropin, parathormone and of serum parastic examinination. All 7 Fahr disease cases had misdiagnosis. There is no special treatment expect for symptomatic treatment.
Conclusion:The bilateral and symmetric calcifications of the basal ganglia, including the lentiform nucleus, caudate nucleus and thalami are characteristic of Fahr disease on CT scan while the normal level of serum calcium, phosphorus, magnesium, thyrotropin, parathormone are the markers for Fahr disease to differentiate from other diseases.
分析Fahr病(特发性家族性脑血管亚铁钙沉着症)的发病机制、临床特点、诊断和治疗方法。
方法
对我院收治的7例Fahr病患者的临床资料进行回顾性分析。分析总结他们的病因、临床表现、家族史、辅助检查结果、诊断、鉴别诊断、治疗及预后情况。
结果
Fahr病是一种罕见的神经系统疾病,起病隐匿,进行性发展。临床症状多样,主要症状为智力障碍、进行性精神发育迟滞、痴呆、发音困难、严重发育障碍、癫痫,锥体外系症状(强直、震颤、面具脸、肌张力障碍、舞蹈病、扭转痉挛、手足徐动等),锥体束损害体征(肢体无力、肌张力增高、腱反射亢进等),共济失调,构音障碍等;颅脑CT检查是诊断Fahr病的重要手段,可见颅内广泛钙化灶,本组7例患者中均有双侧基底节对称性的钙化灶,其中伴有小脑钙化4例,丘脑钙化1例,皮层钙化3例,脑干钙化3例;7例患者血清钙、磷、镁、FT3、FT4、TSH、PTH均正常,血清寄生虫全套均示阴性;7例患者均曾被误诊;本病无特殊治疗,主要是对症治疗及营养脑细胞治疗。
结论
Fahr病的CT特征是双侧基底节、尾状核、豆状核、丘脑、脑干及小脑齿状核对称性钙化,而血清中钙、磷、镁、促甲状腺激素及甲状旁腺激素水平正常则是Fahr病与其他疾病鉴别的关键指标。
Objective: To analyze the nosogenesis, clinical characteristics, diagnosis and treatment of Fahr disease
Methods: The clinical data of 7 cases with Fahr disease were analyzed, including the pathogeny, clinical manifestations, family history, imaging characteristic, laboratory investigation, diagnosis, differential diagnosis, treatment methods and outcome.
Results: Fahr disease is a rare and slowly progressive disorder manifested by amentia, progressive mental retardation, dementia, dysphonia, severe eccyliosis, epilepsy, ectrapyramidal disorders ( rigidity, tremor, mask face, dysmyotonia, chorea, torsion spasm, athetosis ), pyramid sign ( weakness, hyermyotonia, tendon hyperreflexia ), ataxia, anarthria. CT scan shows encephalic general calcifications and CT scan plays an important role in the right diagnosis. All 7 Fahr disease cases had bilateral and symmetric calcifications of the basal ganglia, 4 of 7 had calcifications of the cerebellum, 1 of 7 had calcifications of the thalamus, 3 of 7 had calcifications of the cortex, 3 of 7 had calcifications of the brainstem,. All 7 Fahr disease cases had normal level of serum calcium, phosphorus, magnesium, FT3, FT4, thyrotropin, parathormone and of serum parastic examinination. All 7 Fahr disease cases had misdiagnosis. There is no special treatment expect for symptomatic treatment.
Conclusion:The bilateral and symmetric calcifications of the basal ganglia, including the lentiform nucleus, caudate nucleus and thalami are characteristic of Fahr disease on CT scan while the normal level of serum calcium, phosphorus, magnesium, thyrotropin, parathormone are the markers for Fahr disease to differentiate from other diseases.
引文
[1]钟心,朱廷敏,潘桂芬,等. Fahr病的CT诊断(附11例报告)[J].中华放射学杂志, 1998, 32: 122-123.
[2] Oliveira JR, Sp iteri E, Sobrido MJ, et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification(Fahr disease). Neurology, 2004, 63:2165-2167.
[3] Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome14q for idiopathic basal ganglia calcification ( Fahr disease)[J]. Am J Med Genet, 1999, 65: 764-772.
[4] Ishikawa S, Ishikawa M , Tokuda T ,et al . Japanese family with an degenerative disease[J]. Am J Med Genet ,2000 ,94 (4) :265-270.
[5] J.R. Oliveira, E. Spiteri, M.J. Sobrido, S. Hopfer, J. Klepper and T. Voit et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease) [J]. Neurology 63 (2004): 2165–2167.
[6] Volpato C.B., De Grandi A., Buffone E., Facheris M., Gebert U., Schifferle G., Sch?nhuber R., Hicks A., Pramstaller P.P.2q37 as a susceptibility locus for idiopathic basal ganglia calcification(IBGC) in a large south Tyrolean family [J]. Journal of Molecular Neuroscience 2009 39:3 (346-353).
[7]张洪峰,崔巍巍,于海龙,等.家族性Fahr病一家系报告[J ].中华神经科杂志, 2004, 37: 190.
[8] Wojda U, Salinska E, Kuznicki J. Calcium ions in neuronal degeneration. IUBMB life. 2008 60:9(575-590).
[9] Koller WC, Cochran JM, Klawans HL.Calcification of the basal ganglia :Computerized tomography and clinical correlation[J]. Neurology , 1979 ,29 :328-333
[10]李一明,朱镛连.基底神经节钙化的病因、病理及与临床的关系[J].国外医学神经病学神经外科学分册, 1987 , 34 : 172.
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[24]余桂军,倪冬艳.家族性Fahr病[J].中国临床神经科学.2001,9(2):190-192.
[25]王康,李玲,崔玉真.合并多发性肾结石的Fahr病1例[J].中国实用内科杂.2004,24(10):596.
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[5] Ishikawa S , Ishikawa M , Tokuda T ,et al.Japanese family with an degenerative disease[J] Am J Med Genet,2000,94(4):265-270.
[6] Volpato C.B., De Grandi A., Buffone E., Facheris M., Gebert U., Schifferle G., Sch?nhuber R., Hicks A., Pramstaller P.P. 2q37 as a susceptibility locus for idiopathic basal ganglia calcification(IBGC) in a large south Tyrolean family [J]. Journal of Molecular Neuroscience 2009 39:3 (346-353)
[7]张洪峰,崔巍巍,于海龙,等.家族性Fahr病一家系报告[J ].中华神经科杂志, 2004, 37: 190.
[8]李一明,朱镛连.基底神经节钙化的病因、病理及与临床的关系[J].国外医学神经病学神经外科学分册, 1987 , 34 : 172.
[9]王国相,桂德超,张雪哲.家族性Fahr病(附1家系报告) [J].中华神经精神科杂志, 1991, 24: 1622-1641.
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[38]朱晓钢,杨建生,张繁之,等.Fahr病合并房颤1例[J].现代诊断治疗. 2001, 12(2):126.
[39] Mahy N , Prats A , Riveros A , et al. Basal ganglia calcification induced by excitotoxicity : an experimental model characterised by electron microscopy and X-ray microanalysis[J]. Acta Neuropathol,1999,98(3):217.
[40] Rossi M, Morena M, Zanardi M. Calcification of the basal ganglia and Fahr disease: Report of two clinical cases and review of the literature[J]. Recenti Prog Med,1993,84(3):192.
[41]隋邦森,栾文忠,陈雁冰.磁共振诊断学图谱[M ].北京:中国科学技术出版社, 1991. 208.
[42] Uygur GA , Liu Y, Hellman RS, et al. Evaluation of regionalcerebral blood flow in massive intracerebral calcifications [J]. J Neuro Med,1995,36:610-612.
[43] Saiki M, Saiki S, Sakai K, et al. Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification[J]. Mov Dis. 2007;22:1027–1030.
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[45] Loeb J.A. Functional improvement in a patient with cerebral calcinosis using a bisphosphonate[J], Mov Disord 13 (1998), 345–349.
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[47] Casamassima F, Lattanzi L, Perlis R.H, Fratta S, Litta A, Longobardi A, Stange J.P, Tatulli A, Cassano G.B. Efficacy of Electroconvulsive Therapy in Fahr Disease Associated With Bipolar Psychotic Disorder A Case Report[J]. Journal of ECT 2009 25:3 (213-215).
[2] Oliveira JR, Sp iteri E, Sobrido MJ, et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification(Fahr disease). Neurology, 2004, 63:2165-2167.
[3] Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome14q for idiopathic basal ganglia calcification ( Fahr disease)[J]. Am J Med Genet, 1999, 65: 764-772.
[4] Ishikawa S, Ishikawa M , Tokuda T ,et al . Japanese family with an degenerative disease[J]. Am J Med Genet ,2000 ,94 (4) :265-270.
[5] J.R. Oliveira, E. Spiteri, M.J. Sobrido, S. Hopfer, J. Klepper and T. Voit et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease) [J]. Neurology 63 (2004): 2165–2167.
[6] Volpato C.B., De Grandi A., Buffone E., Facheris M., Gebert U., Schifferle G., Sch?nhuber R., Hicks A., Pramstaller P.P.2q37 as a susceptibility locus for idiopathic basal ganglia calcification(IBGC) in a large south Tyrolean family [J]. Journal of Molecular Neuroscience 2009 39:3 (346-353).
[7]张洪峰,崔巍巍,于海龙,等.家族性Fahr病一家系报告[J ].中华神经科杂志, 2004, 37: 190.
[8] Wojda U, Salinska E, Kuznicki J. Calcium ions in neuronal degeneration. IUBMB life. 2008 60:9(575-590).
[9] Koller WC, Cochran JM, Klawans HL.Calcification of the basal ganglia :Computerized tomography and clinical correlation[J]. Neurology , 1979 ,29 :328-333
[10]李一明,朱镛连.基底神经节钙化的病因、病理及与临床的关系[J].国外医学神经病学神经外科学分册, 1987 , 34 : 172.
[11] Nomoto N , Sugimo H , Iguchi H , et al . A case of Fahr’s disease Presenting〝diffuse neurofibriary tangles with calcification〞[J].Rinsho Shinkeigaku ,2002 ,42 (8) :745-749.
[12]王国相,桂德超,张雪哲.家族性Fahr病(附1家系报告)[J] .中华神经精神科杂志, 1991, 24: 162-164.
[13]刘红光,卢明花,王其军,等.Fahr病影像学诊断及病理学分析[J].中华放射学杂志,2006,40(5):474-478.
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