结节性硬化症一家系临床分析.pdfVIP

CHINESECOMMUNITY DOCTORS 病例报告 结节性硬化症一家系临床分析 张德伦 陈林 沈宁平 姚鹏 李伟明 郭玉春 637000南充市第二人民医院 doi:10.3969/j.issn.1007-614x.2015.11.89 摘 要 目的：探讨结节性硬化症的临床特征和遗传特点，为临床诊断与治疗提供参考。方法：对一家系4例结节性 硬化症患者的临床表现、影像学检查及遗传特点进行回顾性分析。结果：本家系三代共4例患者，男1例、女3例， 为典型常染色体显性遗传特点；均以癫痫作为首发症状，发病年龄小，2岁前发病3例；伴有皮肤损害、智力低下3 例；影像学检查均发现大小不等的钙化灶或高密度影；先证者脑电图检查异常，主要表现为慢波增多、局灶性癫痫样 放电，两侧脑波不对称；经治疗，癫痫发作控制2例，但智力障碍均未改善。结论：癫痫、智力障碍、皮肤损伤及影 像学颅内结节钙化点，是结节硬化症的典型表现和临床诊断的重要依据；结节硬化症的遗传几率高，患病家系成员的 遗传学咨询和产前诊断尤为重要。 关键词 结节性硬化症；癫痫；诊断；遗传 Clinicalanalysisoftuberoussclerosiscomplexinapedigree ZhangDelun,ChenLin,ShenNingping,YaoPeng,LiWeiming,GuoYuchun TheSecondPeoplesHospitalofNanchongCity637000 Abstract Objective:Toexploretheclinicalcharacteristicsandgeneticcharacteristicsoftuberoussclerosiscomplextoprovide reference for the clinical diagnosis and treatment.Methods:The clinical manifestations,imaging examination and genetic characteristicsof 4 patientswithtuberoussclerosiscomplexinapedigreewereretrospectivelyanalyzed.Mesults:Thethree generations in this family had 4 patients,male in 1 case,female in 3 cases,they had typical autosomal dominant genetic characteristics,allwithepilepsyasthefirstsymptom,theageofonsetwassmall,3caseswereonsetbefore2yearsold,3caseshad skindamage,mentalretardation,theimagingexaminationfoundunequal-sizedcalcificationsorhighdensityshadow.TheEEG examinationofproposituswasabnormal,themajorperformancewastheslowwaveincreased,focalepilepticdischarge,bothsidesof brain wave asymmetry.After treatment,2 cases of epileptic seizure were controlled,but dysgnosia had not been improved. Conclusion:Epilepsy,dysgnosia,skinlesionsandimagingintracranialnodularcalcifiedpointsaretheimportantbasisforthe typicalmanifestationsandclinicaldiagnosisoftuberoussclerosiscomplex.Thegeneticprobabilityoftuber