婴儿结节性硬化症一例

患儿,女,150d,因“反复惊厥2月余,伴呕吐3d”入院。患儿生后2个月开始发病,病前元诱因。抽搐发作时头与躯干前屈,双臂上举,呈拥抱状。每月发作数十次,无发热。出生史正常,无窒息及黄疸病史。母亲孕期正常,否认遗传病史。查体：T37．2℃,R32次／min,HR134次／min,体质量8kg。全身见多处大小不等皮肤色素脱失斑（16处）,见图1（封三）。前囟平坦,张力不高,颈软,心、肺、腹无异常,神经系统检查无阳性体征。辅助检查：血常规及生化正常。     

双胞胎同患结节性硬化症

结节性硬化症(TSC)为一种常染色体显性遗传性皮肤病,是皮肤神经综合征之一,可引起脑、眼、皮肤、心脏、肾脏、肺脏等几乎全身所有器官的损害,双胞胎同患未见报道.现将我科发现的1对双胞胎同患结节性硬化症报告如下.     

婴儿结节性硬化症一例

患儿,女,150d,因"反复惊厥2月余,伴呕吐3d"入院.患儿生后2个月开始发病,病前无诱因.抽搐发作时头与躯干前屈,双臂上举,呈拥抱状.每月发作数十次,无发热.出生史正常,无窒息及黄疸病史.母亲孕期正常,否认遗传病史.查体:T37.2℃,R 32次/min,HR 134次/min,体质量8kg.全身见多处大小不等皮肤色素脱失斑(16处),见图1(封三).     

新生儿双胞胎结节性硬化症病例报告

1病例资料
　　患儿母亲孕产史：18岁,孕30+1周,G2 p1,孕期未见异常,2013年11月24日在广西壮族自治区妇幼保健院因“双胎妊娠,宫内感染”行剖宫产手术产下双胞胎。双绒毛膜、双羊膜囊,羊水、胎盘和脐带未见异常。家族史无特殊描述。因双胞胎早产入院观察。图1为双胞胎之大和之小临床诊断治疗经过的时间轴。     

结节性硬化症7例

结节性硬化症(tuberous sclerosis complex,TS)为神经皮肤综合征的一种,可累及脑、皮肤、眼、心脏、肾脏等多脏器,临床表现各异,易漏诊或误诊。为提高对本病认识,本文对我院1999年6月~2003年5月收治TS患儿7例临床资料进行回顾性分析。现报告如下。     

结节性硬化症2例

例 1,男 ,9月。以反复惊厥伴智力落后 4月入院。患儿 5个月时突然惊厥 ,呈婴儿痉挛症样发作 ,每天 10余次。逐渐出现表情呆滞 ,智力落后。查体 :神志清 ,反应迟钝 ,精神萎靡 ,腹、背、臀部可见直径 10～ 2 0ｍｍ大小不等色素脱失斑 ,无皮脂腺瘤。囟门平软。双眼水平位震颤。双肺呼吸音清晰 ,心率10 0次 /ｍｉｎ ,律不齐 ,可闻早搏 3次 /ｍｉｎ。肝脾不大。四肢肌力、肌张力正常。双膝反射活跃 ,巴氏征阳性 ,脑膜刺激征阴性。脑电图示高峰节律紊乱 ;头颅ＣＴ脑室周围有两处 2ｍｍ× 2ｍｍ ,2ｍｍ× 3ｍｍ大小密度增高影 ;胸片未见异常 ;心脏…     

结节性硬化症2例

结节性硬化症２例福建省立医院儿科（３５０００１）谢晋毅，陈琅例１，男，１３岁，出生时发现左上下肢各有一个２ｃｍ×３ｃｍ大小色素脱失斑，３岁时鼻唇沟附近出现皮脂脉瘤，呈红褐色，并随年龄增大，逐渐向颊、眼睑、前额发展９３岁２个月因高热出现惊厥，其后多次类...     

6月龄以内婴儿结节性硬化症临床特征分析

目的探讨6月龄以内婴儿结节性硬化症(TSC)的临床特点。方法回顾分析15例6月龄以内确诊为TSC患儿的临床资料。结果 15例患儿男6例、女9例。因癫痫就诊13例,表现为婴儿痉挛8例,因产前发现心脏肿瘤就诊2例,可见3个以上色素脱失斑10例。15例患儿头颅磁共振成像均显示有室管膜下结节,其中13例同时合并皮质下结节; 8例心脏超声检查提示多发横纹肌瘤;11例行眼底检查者中9例发现眼底错构瘤;2例行基因检查均阳性。结论癫痫为6月龄以内婴儿TSC的主要就诊原因,细致的体格检查、头颅磁共振成像、心脏B超及眼底检查对早期TSC诊断具有重要意义。     

结节性硬化症

结节性硬化症 (ｔｕｂｅｒｏｕｓｓｃｌｅｒｏｓｉｓ ,ＴＳ)是一种常见的神经皮肤综合征。是少数通过临床表现就能诊断的遗传性疾病之一。本病的发生率约为 1/6 0 0 0～ 10 0 0 0 [1] 。近年来 ,有关本病的各方面研究均有较多的进展 ,临床特征为癫疒间 、智力低下、皮肤色素脱失斑和面部血管纤维瘤。现简述如下。1　遗传学及分子致病机制ＴＳ为常染色体显性遗传病 ,已知有两个基因位点失活突变 (ｉｎａｃｔｉｖａｔｉｎｇｍｕｔａｔｉｏｎ)均可导致本病[1] 。他们分别为ＴＳ1和ＴＳ2。ＴＳ1含 3 4ｋｂ编码区和 2 1个编码外显子 ,长度为 5 0…     

Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis

An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually died of cardiac failure following an episode of septicaemia, convulsions and aspiration pneumonia. Necropsy showed multiple cardiac rhabdomyomata and numerous cerebral germinal layer and periventricular white matter nodules. This case stresses the importance of clinical investigations and perinatal necropsy in non-immune hydrops fetalis (NIHF) in determining the causes of clinical presentation and the underlying pathology.     

Neonatal tuberous sclerosis

Cortical, subcortical and subependymal tubers were more completely and more clearly depicted by MR than by CT and US in a 3-week-old infant. These lesions were best shown on T1-weighted images as areas of high signal intensity.     

Autism in tuberous sclerosis

Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the temporal lobes may be associated with autism. No one factor alone (cognitive impairment, tuber localization, occurrence of infantile spasms, focal EEG abnormalities), can be causally linked with the abnormal behaviour. Autism may also reflect a direct effect of the abnormal genetic program. Incidence of autism associated with Tuberous Sclerosis may be significantly higher than the rates of cardiac and renal abnormalities, for which screening is routinely conducted in this population. Hopefully, early diagnosis of autism will allow for earlier treatment and the potential for better outcome for children with Tuberous Sclerosis.     

Epilepsy in newborns with tuberous sclerosis complex

BackgroundEpilepsy affects up to 90% of TSC patients and majority of them have seizure at the age of 3–5 months, after a period of latent epileptogenesis, but some develop epilepsy earlier.AimsThe aim of this work was to identify incidence, clinical characteristics, and risk factors for neonatal onset of epilepsy in a large cohort of TSC patients.MethodsA retrospective review of medical data of 421 TSC patients was performed. Patients who developed epilepsy within first 4 weeks of life were included in the study. Clinical and treatment data, EEG, MRI, and genetic analyses were assessed.ResultsEpilepsy was present in 366 (86.9%) patients. Twenty-one (5.7%) developed epilepsy as newborns. Mean follow-up was 44.86 (6–170) months. Six patients were seizure free and 15 had drug-resistant seizures at the end of follow-up. Mental retardation was found in 81% of patients. In 11 (52.4%) patients brain MRI revealed large malformations of cerebral cortex, meeting the criteria for focal cortical dysplasia (FCD). FCD was revealed in both TSC1 and TSC2 mutation cases. Other risk factors for neonatal epilepsy included: perinatal complications and congenital SEGAs. Presence of FCD was associated with more severe epilepsy and worse neuropsychological outcome. Epilepsy surgery resulted in improvement in seizure control.ConclusionsNeonatal onset of epilepsy in TSC is frequently associated with large malformations of cerebral cortex. Patients with FCD are at high risk of severe drug-resistant epilepsy and poor neuropsychological outcome. Early epilepsy surgery may be beneficial and should be considered in such cases.     

Left ventricular giant rhabdomyoma in an infant with no tuberous sclerosis: accidental finding and complex management

The accidental finding of a giant left ventricular rhabdomyoma in a female infant with no tuberous sclerosis is described herein. This is the first report of a huge cardiac rhabdomyoma occluding the left ventricular cavity, which was not associated with tuberous sclerosis. The clinical management of the baby and the difficult therapeutical choices involved both pediatricians and pediatric cardiologists.