脑健黄瘤病(病例分享及文献)

脑健黄瘤病Case1

A44-year-oldmanpresentedwithprogressivecerebellarataxiaandspasticparaparesis.Gaitdifficultieshadstartedatage16years,andatage42yearsbilateralcataractswerediagnosed.Hiscognitivefunctionprogressivelydeclined,andseizuresrepeatedlyoccurred.Neurology2005;64;1476A47yearsoldwhitemanwhichsymptomsbeganat20yearsold.Hepresentedprogressivewalkingdifficulty,becomingunabletowalkfastat40yearsold.Hepresenteddelayofthepsychomotordevelopment.Hehadahistoryofchronicdiarrheaduringthechildhood.Hismotherdeniedotherfamilymemberswithsimilarsymptoms,exceptforthepatient’syoungerbrother.Case2ArqNeuropsiquiatr2004;62(4):1085-1089Intheneurologicalexamination,hepresentedmildmentalretardation,mildbilateralfacialpalsywithoutotherfindingsincranialnerves.HismuscularstrengthwasIV–insuperiorlimbs(SL)andIV-ininferiorlimbs(IL).WenotedmoderatespasticityinIL,increaseddeeptendonreflexeswithbilateralBabinskisign.Thesensibilitywaspreserved.ThepatientpresentedsymmetricaldismetryanddisdiadococinesyinSL.Hehadalsogaitataxiaandwalkedwithsupport.ArqNeuropsiquiatr2004;62(4):1085-1089

A,40yearsoldwhiteman,casetwo'sbrother,whichaccordingtothemother'sinformation,presentedlearningdifficultysincechildhood,unabletoreadortowrite.Hedidnotfinishthebasicschool.At35yearsofagehebeganwithprogressivedifficultytowalk.Healsopresentedchronicdiarrheaandwassubmittedtoabilateralcataractssurgeryinthechildhood.Case3ArqNeuropsiquiatr2004;62(4):1085-1089

Intheneurologicalexamhepresentedmildmentalretardation,visualhandicapandfacialpalsywithoutotherabnormalitiesincranialnerves.ThemusclestrengthwasVinSLandIV+inIL.OtherfindingswerespasticityinIL,increaseddeeptendonreflexeswithbilateralBabinskiandHoffmansigns.Sensibilitywaspreserved.HehadwalkingdisturbancewithataxiaandspasticityinIL.ArqNeuropsiquiatr2004;62(4):1085-1089患者男性,52岁。以“头痛、发热、声音嘶哑1周”入院。入院前1周无明显诱因出现头痛,为后枕部跳痛,呈阵发性并持续加重,伴有发热,体温最高达38.8℃,咳嗽,无痰,声音嘶哑。入院后患者出现尿潴留,饮水呛咳并逐渐出现进食饮水困难。患者13岁双眼曾患白内障,25岁行白内障手术;1990年开始逐渐出现痉挛性截瘫和智能障碍。入院查体:体温37.8℃,血压130/70mmHg。神志清楚,声音嘶哑,反应淡漠,计算力差,左侧软腭抬举无力,咽反射消失,左侧声带麻痹,伸舌左偏,双上肢肌力Ⅴ级,肌腱反射对称,双下肢肌力Ⅳ级,双侧膝反射及跟腱反射活跃,双侧踝阵挛阳性,双侧巴宾斯基征阳性。家系调查:患者妹妹也呈痉挛性步态,无白内障和明显智能障碍,父母无类似病史。病例4中国神经免疫学和神经病学杂志2007年14卷2期本病的共同特点：小脑性共济失调锥体束受损脑干受累智力障碍白内障、腹泻家族史Case1Case2-3Case2-3CerebrotendinousXanthomatosis

(CTX)

脑腱黄瘤病脑腱黄瘤病（ＣＴＸ）是一种常染色体隐性遗传的脂肪代谢障碍性疾病，致病基因位于常染色体２ｑ３３－ｑｔｅｒ，导致固醇２７－羟化酶缺乏，使胆固醇合成胆酸受阻，引起不同组织胆固醇代谢障碍。多系统损害：肌腱黄瘤(71%)青少年白内障(92%)早发的动脉硬化神经系统损害(100%)小脑性共济失调进行性智能减退(81%)进行性下肢痉挛性瘫痪延髓麻痹周围神经病诊断线索1）infantile-onsetdiarrheaChronicdiarrheafrominfancymaybetheearliestclinicalmanifestation.

2）childhood-onsetcataract

Inabout75%ofaffectedindividuals,cataractsarethefirstfinding,oftenappearinginthefirstdecadeoflife.3）adolescent-toyoungadult-onsettendonxanthomas

Xanthomasappearinthesecondorthirddecade;theyoccurontheAchillestendon.4）adult-onsetprogressiveneurologicdysfunctiondementiawithslowdeteriorationinintellectualabilitiesoccursinthe20sinover50%ofindividuals.Neuropsychiatricsymptomssuchasbehavioralchanges,hallucinations,agitation,aggression,depression,andsuicideattemptsmaybeprominent.Pyramidalsigns(i.e.,spasticity)and/orcerebellarsignsarealmostinvariablypresentbetween20and30yearsofage.Otherfindingsincludeextrapyramidalmanifestations(dystoniaandatypicalparkinsonism),seizures,andperipheralneuropathy.肌腱黄瘤肌腱黄瘤肌腱黄瘤肌腱黄瘤肌腱黄瘤肌腱黄瘤肌腱黄瘤脑腱黄瘤病的MRI表现ConventionalMRIstudieshaveshownfocal/diffusewhitematterabnormalitiesanddifferentdegreesofcerebralandcerebellaratrophyinthebrainofpatientswithCTX.Thebilateralnonhomogenous,hyperintensemagneticresonancesignalindentatenucleiandsurroundingcerebellarwhitematter,canbeconsideredasaneuroradiologicalfeaturesuggestiveofCTXandcouldbecomeanimportantdiagnosticmarker.脑腱黄瘤病的MRI表现脑腱黄瘤病的MRI表现脑腱黄瘤病的MRI表现脑腱黄瘤病的MRI表现脑腱黄瘤病的MRI表现脑腱黄瘤病的MRI表现脑腱黄瘤病的MRI表现脑腱黄瘤病的诊断临床表现家族史MRI血浆胆甾烷醇升高、固醇27-羟化酶活性下降基因检查:mutationsinthesterol27-hydroxylasegene(CYP27gene)病理检查:肌腱内发现腱黄瘤细胞或胆固醇结晶脑腱黄瘤病的治疗

SeveralmodesoftreatmenthavebeentriedforCTX.Since1975,chenodeoxy

cholicacid(CDCA)(鹅脱氢胆酸

)750mgdailyhasbeencommonlyusedasthestandardtherapy,Thereisaconsiderabledecreaseintheserumcholestanolandasharpdeclineintheexcretionofurinebilealcohols.ButacombinationofCDCAwith3-hydroxy3-methylglutarylcoenzyme