肝豆状核变性磁共振成像动态变化及相关因素分析

目的 了解肝豆状核变性(HLD)治疗过程中核磁共振成像(MRI)的动态变化及相关因素。方法对63例HLD患儿行脑及肝MRI常规序列扫描。42/63例显示异常MRI,其中22/42例MRI异常者复查1次/1.0-1.5年,共2-4次结果 10/22例惠儿MRI显示脑和肝异常信号,9/22例脑受累,3/22例肝受累。随访显示,青霉胺剂量不足且初治年龄>15岁者MRI病灶改善缓慢或无变化;停药2个月以上MRI病灶即可重现。恢复治疗后临床和MRI改善缓慢。治疗合理组临床痊愈率和MRI病灶消失率及好转率均明显高于治疗不合理组。结论HLD经合理治疗,肝及脑部MRI异常信号可随着临床改善而渐减甚至消失。治疗不合理者MRI病灶改善缓慢、无变化或重现。MRI有助于HLD疗效及预后的判断。     

磁共振成像在儿童肝豆状核变性临床各期中的变化

目的了解儿童肝豆状核变性(hepatolenticulardegeneration,HLD)临床各期中的磁共振成像(MRI)表现,以评价MRI在肝豆状核变性疗效及预后判断中的意义.方法对临床确诊为HLD的30例未治和初治患者及27例随访患者应用荷兰Philips0.5T超导MRI系统进行脑及肝常规序列扫描,并结合临床资料综合分析.结果57例患者中37例(64.9%)MBI显示脑和(或)肝异常信号,18例(31.6%)脑和肝同时受累.脑部异常者,基底节是最常见的受累部位,其次是丘脑,多表现为双侧对称性T2W高信号或(和)T1W低信号.肝脏异常者,表现为多发性弥漫性圆型T1W高信号,T2W低信号.未治及初治患者首次MRI异常率(脑、肝)明显高于随访患者(x2=12.5,P＜0.01),疗程与MRI异常率成反比.28例正规治疗患者(19例的随访患者及9例初治患者)的随访MRI异常率与治疗前病程(均在5年以内)无关,(x2=2.44,P＞0.05).未治、短程或不规则治疗与MRI异常明显相关.多数病灶经合理治疗后可随临床好转而逐渐消失或减少.治疗不当且总病程超过10年者,MRI呈脑软化、肝内巨大结节等严重异常信号,并伴有明显的临床症状和体征,复治后临床及MRI改善缓慢.结论肝豆状核变性经合理治疗,肝及脑部MRI异常信号可随临床症状改善而逐渐减少或消失.MRI有助于肝豆状核变性疗效及预后的判断.     

儿童肝豆状核变性临床与MRI相关性分析

探讨儿童肝豆状核变性（WD）的临床特点及其与MRI相关性。方法根据18例患者头颅及腹部MRI检查结果,结合临床资料综合分析。结果18例中10例MRI显示脑和（或）肝异常信号。脑部异常者8例,基底节是最常见受累部位,其次是丘脑,表现为双侧对称性T1W低信号,T2W高信号。肝脏异常者7例,表现为多发性弥散性T1W高信号,T2W低信号。异常MRI与临床表现有相关性,而与治疗前病程无关。结论MRI有助于肝豆状核变性的诊断。     

以肝、神经系统外表现为首发症状的肝豆状核变性25例临床分析

为研究肝豆状核变性的肝、神经系统外表现，对25例以肝、神经系统外表现为首发症状的肝豆状核变性（HLD）患儿进行临床分析。结果发现以肾脏损害为首发症状者15例，以溶血性贫血为首发症状者7例，以骨关节症状为首发症状者3例；确诊时伴有肝脏肿大21例，肝功能异常13例，脾脏肿大7例，有神经或精神改变4例；88％患儿病初误诊为肾脏疾病、溶血性贫血、类风湿性关节炎等。提示对原因不明的肾脏损害、溶血性贫血、骨关节症状，同时伴有肝脏肿大和／或肝功能异常的患儿，需考虑HLD的可能。     

以溶血性贫血为首发表现的肝豆状核变性伴鱼鳞癣1例报告

目的探讨以溶血性贫血为首发表现的肝豆状核变性(HLD)的临床特点及HLD与鱼鳞癣之间的关系。方法回顾分析1例以溶血性贫血为首发表现的肝豆状核变性伴鱼鳞癣患儿的临床表现、发病经过及诊断和治疗过程。结果患儿,女,10岁,临床以乏力、黄疸为首发症状,入院5 d后出现腹胀,进行性加重。网织红细胞8.5%,Coombs试验阴性,角膜出现K-F环,全腹CT平扫示胸腔及腹腔积液,肝脏异常物质沉积,脾大。ATP 7 B及TGM 1基因突变,均位于第14对染色体上。确诊肝豆状核变性合并鱼鳞癣。给予驱铜、阻止铜吸收及口服维A酸等对症支持治疗,病情缓解。结论以溶血性贫血首发的HLD,且合并鱼鳞癣极其少见。     

以肾脏损害为首发表现的肝豆状核变性15例

目的　探讨儿童肝豆状核变性 (HLD)以肾脏损害为首发表现的临床特征。方法　回顾 5 4例伴肾脏损害的HLD ,对其中的 15例以肾脏损害为首发表现的HLD进行临床分析。结果　以肾损害为首发表现的HLD占 2 7.7% ,临床主要表现为浮肿、少尿、肉眼血尿及尿常规检查异常。结论　HLD患儿肾脏受损的表现可发生在肝脏损害和神经系统损害症状出现之前 ,临床容易误诊。     

儿童肝豆状核变性回顾性多系统症状分析北大核心CSCD

目的探讨儿童肝豆状核变性(WD)的多系统症状特点及其头颅磁共振成像(MRI)表现。方法回顾性分析北京大学第一医院儿科2001年1月至2017年12月住院的65例肝豆状核变性患儿的临床资料。结果65例患儿中神经型28例,非神经型37例。神经型平均起病年龄为11.0岁,非神经型为8.1岁(t=3.328,P=0.001)。76.9%的患儿存在2个及以上系统受累,以肝脏、脑最常见,肾脏及血液系统受累不少见(分别为55.4%和33.8%)。存在K-F环、铜蓝蛋白及24 h尿铜三者中,17.2%的患儿其中有2项正常,13.8%的患儿其中有1项正常。神经型患儿K-F环阳性检出率为100.0%,非神经型患儿K-F环阳性检出率57.6%,二者比较差异有统计学意义(χ^2=13.981,P<0.001)。K-F环阳性患儿年龄为(11.8±2.7)岁,阴性患儿年龄为(7.6±3.7)岁,二者差异有统计学意义(t=4.221,P<0.001)。神经型和非神经型患儿24 h尿铜水平比较差异无统计学意义(t=0.024,P=0.981)。神经型患儿最常见的神经系统症状包括构音障碍、震颤、流涎/吞咽/咀嚼困难、姿势异常等。头颅MRI示基底核、白质受累、脑萎缩、脑室增宽等表现在神经型及非神经型WD儿童中均可见到,其中基底核是最常见的受累部位,但丘脑及脑干受累仅见于神经型。在30例头颅MRI异常的患儿中,基底核、脑室增宽、脑萎缩、白质受累最早出现的年龄为8岁,而丘脑和脑干受累最早出现的年龄为12岁。神经系统症状出现时间越长,则丘脑及脑干越容易受累。结论儿童肝豆状核变性多表现为多系统受累,其临床表现多样。K-F环、铜蓝蛋白及24 h尿铜三者中1项或者2项正常不能除外WD。头颅MRI异常可早于神经系统症状,基底核最常见、最早受累,丘脑及脑干较晚累及,多见于青春期。     

以肾脏损害为主的肝豆状核变性18例

目的探讨以肾脏损害为主的肝豆状核变性(HLD)患儿的临床特征。方法采用整体调查方法,依据临床及实验室情况对1994年8月~2004年8月以肾脏损害为主的HLD患儿18例进行临床分析。结果并肝脏损害8例,并神经系统损害3例。临床表现不典型,主要为水肿、少尿、血尿、蛋白尿、肝损害等。结论以肾脏损害为主的HLD患儿的临床表现存在多样性,应予以重视。     

肝豆状核变性合并薄基底膜肾病1 例报告并文献复习

目的分析儿童肝豆状核变性合并肾病的诊断。方法回顾分析1例血尿伴肝功能异常、低补体血症,最终确诊为肝豆状核变性合并薄基底膜肾病患儿的临床资料。结果患儿,女,10岁。主要临床表现为持续镜下血尿,不伴白蛋白尿,伴肝功能异常、低补体血症、近期构音异常;肾脏病理为薄基底膜肾病;血铜蓝蛋白23.10 mg/L,尿铜120μg/24 h;头颅MRI示双侧基底核及壳核异常信号;腹部超声提示肝硬化;眼裂隙灯双侧角膜可见K-F环;基因突变分析示患儿ATP7B纯合突变,COL4A3杂合突变。结论持续性镜下血尿伴肝功能异常、低补体血症者,临床需常规除外肝豆状核变性之可能。     

儿童脱髓鞘疾病诊断与治疗探讨

目的 探讨儿童脱髓鞘病变的临床特点、诊断、治疗及相关因素。方法 将1995年～2004年我院收治的46例儿童脱髓鞘病变的临床与影像学、电生理及实验室检查结果进行综合分析。结果 临床表现为中枢神经系统受累21例,15／18例脑MRI异常(83．33％),病灶主要位于侧脑室周围及额顶颞叶白质,呈斑片状T2高信号或伴Tt低信号;4／6例脊髓MRI异常(66．67％),呈脊髓增粗或伴T2高信号;6／10例脑CT异常(60％),呈侧脑室周围及额顶颞叶白质为主的低密度灶;12／13例脑脊液寡克隆抗体阳性(92．31％)。临床表现以神经根受累为主25例,其中16／20例(80％)肌电图呈周围神经源损害;9例行脊髓MRI检查,1例显示马尾及终丝增粗,8例正常;3例行脑MRI检查,均正常;3／4例脑脊液寡克隆抗体阳性(75%)。46例患儿中痊愈8例(17．39％),好转29例(63．04％),未愈7例(15．22％),复发2例(4．35%)。32／34例(93．75％)激素应用者临床痊愈或好转。疗效差者与临床表现危重、治疗前病程过长、未合理应用激素及MRI病灶严重有关。结论 MRI、肌电图及脑脊液寡克隆抗体的检测有助于儿童脱髓鞘病变的诊断;疗效与治疗前病程、临床及MRI病灶的严重程度、激素的合理应用等有关。     

儿童脑脓肿37例临床特征和治疗随访

目的 阐明儿童脑脓肿临床特征,探讨脑脓肿的治疗方法。方法 对３７例经ＣＴ和ＭＲＩ确诊为脑逐月中的患儿临床特征进行分析,对疗效进行观察,对其中２３例进行病后３个月～５年的随访。结果 ３７例患儿中未查到原发感染灶的２９例（７８％）,以癫痫为首发症状者２０例（５４％）,头痛者１８例（４９％）,发热者１３例（３５％）,３０例经保守治疗１１例治愈,１２例好转,总有效率７７％;７例采取外科治疗,１例治愈,３例     

甲基丙二酸血症16例

目的 探讨甲基丙二酸血症的临床特征及治疗.方法 对本院通过气相色谱-质谱法尿有机酸分析确诊甲基丙二酸血症的患儿16例进行临床特征及诊疗分析.结果 本院16例患儿的发病年龄为出生5d～2岁,临床表现包括呕吐、喂养困难6例,发育落后/倒退6例,反应差5例,惊厥发作1例等.血气分析提示代谢性酸中毒8例,高血氨1例,11例头颅CT或MRI出现异常,2例视觉诱发电位均异常,3例查听觉脑干诱发电位2例异常.16例查尿有机酸均提示甲基丙二酸增高.2例确诊前死亡,6例确诊后放弃治疗,7例长期接受维生素B12、左旋肉碱治疗.对于接受治疗者进行随访,随访时间2个月～2 a(平均11个月),均存在发育落后,患儿进行一般神经发育评价,5例较治疗前有明显进步,但均存在发育落后,1例神经发育明显落后,1例治疗时间J短,现未复查,1例失访.结论 反应差、智力体格发育落后或倒退、惊厥、发作性呕吐、喂养困难、肌张力异常、代谢性酸中毒、高氨血症、头颅MRI出现基底核对称异常信号是甲基丙二酸血症的主要临床特征,不同年龄临床表现不同,气相色谱-质谱法尿有机酸分析是早期诊断的重要依据,确诊后坚持长期合理治疗是改善预后的有效方法.     

Role of early EEG and neuroimaging in determination of prognosis in children with complex febrile seizure

BACKGROUND: The present study investigates the role of early use of EEG in children with no known neuropathology prior to the first CFS, and the contribution made by computed tomography (CT) and magnetic resonance imaging (MRI) to treatment and prognosis. METHODS: Over a period of 7 years, the authors evaluated 159 children (age range: 2 months-5 years) who were being treated for CFS at Haydarpasa Numune Training and Research Hospital, Pediatrics Clinic, Istanbul, Turkey, and who had no previously known neurological disorder. Patients who presented with febrile seizure were determined to have CFS if they fulfilled the following criteria: <3 months of age when seizure occurred, duration of seizure >/=15 min, more than one seizure occurred during a single episode of illness, or focal seizures and postictal neurological deficit was found. EEG was performed on all patients. CT was performed on the patients who had postictal neurologic deficit or focal seizures. Cranial MRI was performed on patients who had focal findings in their EEGs. RESULTS: Electroencephalogram abnormality was found in 71 cases; 51 of these were diagnosed with epilepsy during follow up. Six of the 16 cases whose EEGs were abnormal between days 2 and 6 were diagnosed with epilepsy. Twenty of the 30 cases whose EEGs were abnormal between days 7 and 10 were diagnosed with epilepsy. All 25 cases who had abnormal EEGs after day 11 were diagnosed with epilepsy. CT was performed for 36 patients, of which five were found to have pathological changes. Pathological changes were detected in two of the nine patients who had cranial MRI. Patients who received CT or MRI were all diagnosed with epilepsy during follow up. CONCLUSION: The results suggest that if neurological examination of CFS patients are normal after their clinical status has stabilised, EEG should be performed after 7 days at the earliest, however for the most accurate diagnosis EEG should be performed 10 days after CFS. The most important predictor for neuroimaging was found to be detection of postictal neurologic deficit. MRI had no advantages over CT in first treating CFS in the emergency unit.     

儿童原发性肾病综合征合并颅内静脉血栓4例病例报告

目的 通过对原发性肾病综合征合并颅内静脉血栓患儿行临床分析,探讨儿童NS合并颅内静脉血栓早期诊断和治疗的可行方案。方法 纳入2012年1月至2015年9月在上海市儿童医院住院的原发性肾病综合征且经头颅CT和（或）MRI确诊的颅内静脉血栓患儿,对其临床症状、实验室指标、影像学检查结果、疗效及预后进行分析。结果 4例原发性肾病综合征合并颅内静脉血栓患儿进入分析,均为男性,年龄5岁4个月至11岁4个月,出现颅内静脉血栓时间距原发性肾病综合征起病时间为1个月至7年余。4例颅内静脉血栓发病时均有神经精神系统症状,查体均未见神经系统阳性体征。3例在颅内静脉血栓发病期间D-二聚体、纤维蛋白原降解产物（FDP）均升高,抗凝血酶Ⅲ（AT-Ⅲ）下降;确诊后D-二聚体、FDP较前继续升高; 4例血清白蛋白明显降低,总胆固醇明显升高。4例出现颅内静脉血栓临床症状当日或次日均行头颅MRI增强+MRV+MRA检查,3例为左侧乙状静脉窦血栓,1例为脑栓塞。明确颅内静脉血栓诊断后,3例予尿激酶溶栓,低分子肝素钙和双嘧达莫抗凝治疗;1例脑栓塞患儿予对症和抗凝治疗;4例症状均明显改善。3例出院后6~12个月随访头颅MRI增强+MRV显示颅内异常信号均有不同程度吸收。结论 儿童原发性肾病综合征合并 颅内静脉血栓易发生于左侧乙状静脉窦。在原发性肾病综合征病程中如出现神经精神系统症状时,应及时行头颅MRI相关序列检查,有助于颅内静脉血栓早期诊断;早期积极溶栓治疗预后良好。     

儿童脑脓肿的显微外科治疗体会

目的 儿童脑脓肿显微外科手术切除的治疗经验总结和分析.方法 回顾性分析2000年1月至2007年12月30例行显微外科手术切除治疗儿童脑脓肿的方法和疗效.结果 手术均全切除脓肿壁.随访21例治愈患儿,17例仍保持治愈,余4例未经影像复查但无异常临床表现.随访6例好转者,2例转为治愈,2例留有癫痫,1例留有左侧肢体偏瘫,1例死于先天性心脏病.结论 儿童脑脓肿的显微外科手术切除,应当选择适当的手术时机,并且要选择合适的手术入路,必要时行术中B超定位,完整剥离脓肿壁,能达到治愈的目的.     

Central nervous system imaging and congenital melanocytic naevi.

AIM: To establish the prevalence of central nervous system (CNS) abnormalities on magnetic resonance imaging (MRI) in a population of children with congenital melanocytic naevi (CMN) over the head and/or spine, and to compare this with clinical findings. METHODS: Forty three patients identified from outpatient clinics underwent MRI of the brain and/or spine. These were reported by a paediatric radiologist and findings compared with the clinical picture. RESULTS: Nine patients had abnormal clinical neurology, seven had abnormal findings on MRI, and six had both abnormal clinical and radiological findings. Only three of the abnormal MRIs showed features of intracranial melanosis. Three others showed structural brain abnormalities: one choroid plexus papilloma, one cerebellar astrocytoma, and one posterior fossa arachnoid cyst; the first two of these have not previously been described in association with CMN. The last abnormal MRI showed equivocal changes requiring reimaging. CONCLUSIONS: The prevalence of radiological CNS abnormality in this group of children was 7/43. Six of these developed abnormal clinical neurological signs within the first 18 months of life, but two did not do so until after the MRI. Two of the CNS lesions were operable; for this reason we support the routine use of early MRI in this group.     

Pathologically proven cavernous angiomas of the brain following radiation therapy for pediatric brain tumors

Lesions consistent with cavernous angiomas (CAs) of the brain are sometimes seen on MRI scans of the brains of patients who received radiation therapy for brain tumors as children. The lesions appear years later within brain tissue that was included in radiation fields. It is unclear whether these MRI-detected lesions are true CAs or a pathological variant. This study reports the clinical, radiographical, and pathological findings in 3 cases of radiation-induced CAs of the brain. From 1995 to 1997, 3 patients previously treated with radiation therapy (45-55 Gy) for pediatric brain tumors (medulloblastoma, ependymoma, and a presumed midbrain astrocytoma) underwent resections of symptomatic and enlarging lesions that were consistent with a CA of the brain. All of the lesions occurred within fields of prior irradiation. None of the patients had received chemotherapy as part of their cancer treatment. CA-presenting symptoms included seizures, cranial nerve deficits, and headaches. The lesions appeared 7-19 years after radiation therapy and slowly enlarged on subsequent imaging studies. MRI scans of the lesions revealed characteristics typical of CA. The lesions became symptomatic 1-5 years after they were initially noted. Surgical resection was performed 1-2 years after symptoms began. The age at resection ranged from 15 to 23 years (10-21 years after radiation therapy). Pathological analysis of the three lesions showed typical CA characteristics. Some CAs may be caused by radiation therapy for pediatric brain tumors. They are radiologically and pathologically similar to sporadically occurring CAs of the brain and may enlarge over time and become symptomatic. CAs can be safely resected using standard microsurgical techniques.     

Lafora disease: A progressive myoclonus epilepsy

Lafora disease is a rare inborn error of metabolism resulting in storage of a polyglucosan in tissues including the brain, skin and liver. Four children are described with progressive myoclonus epilepsy and intellectual deterioration in whom this diagnosis was made. In two the diagnosis was confirmed by the presence of periodic acid schiff (PAS) positive, diastase resistant, colloidal iron staining inclusion material in the liver when they were referred to a paediatric gastroenterologist with abnormal liver function tests. In one, the diagnosis was made from cerebellar biopsy, although on retrospective review the liver biopsy performed at this time was abnormal. In a fourth child, whose sibling was affected, histological diagnosis was confirmed by skin biopsy, although clinical and EEG findings had been highly suggestive for several years. The disease has autosomal recessive inheritance, is progressive and the prognosis is poor. Paediatricians should be aware of this diagnosis, which is often delayed, as early histological diagnosis allows prognostic and genetic counselling and optimal treatment. Although the diagnosis was made by liver or brain biopsy in three cases, skin biopsy offers a reliable, less invasive means of diagnosis.     

Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management?

Background Routine magnetic resonance imaging (MRI) surveillance of bone marrow change in patients with Gaucher disease (GD) is recommended, but interpretation of imaging findings in the developing skeleton may be difficult.Objectives To assess the agreement between routine spinal MRI findings and clinical course in paediatric GD patients receiving enzyme replacement therapy (ERT).Materials and methods A retrospective institutional review of all GD patients on ERT who had had repeated routine spinal MRI in accordance with national recommendations (n=14) was carried out. Vertebral body bone marrow MRI T1 signal was assessed relative to intervertebral discs. MRI findings were then compared with recorded date(s) of ERT initiation and possible therapy changes.Results Nine patients had spinal MRI both before and after the start of ERT. MRI T1 marrow signal was normal in two and abnormal in three of the nine patients both before and after the start of ERT. Two of the nine patients had normalization and one had conversion from normal to abnormal T1 signal. Interpretation was uncertain in one. Seven episodes of treatment intensification occurred. MRI T1 marrow signal was normal before five and uncertain before two of the seven episodes.Conclusion Routine spinal MRI had low accuracy for predicting clinically indicated therapy intensification.