瓜氨酸血症一例

患儿男,１３岁,因头痛、嗜睡２３天,呕吐３天,意识不清１２小时入院。入院２３天前,因腹痛口服氨酚待因片（成份为对乙酰氨基酚和可待因）后１０分钟出现头痛,呈间歇性,伴嗜睡,走路时似喝醉酒样。２０天前抽搐１次,表现为双眼凝视,牙关紧闭,双手握拳,四肢强直...     

新生儿瓜氨酸血症1例报道并文献复习

目的总结分析1例新生儿瓜氨酸血症存活患儿的诊断和治疗经过,为改善该病患儿的预后提供经验。方法报道1例新生儿瓜氨酸血症存活患儿,并进行文献复习。结果患儿,男,2d,因"出汗多6h"入院,入院后即予保暖和补液,常规治疗后患儿病情逐渐加重,出现喂养困难、呼吸暂停、抽搐和意识不清等,予机械通气和对症处理。入院后3d查血氨2110μmol.L-1。生后第4天采血行血串联质谱分析,生后第13天回报结果瓜氨酸为438.8μmol.L-1。予限制蛋白摄入、盐酸精氨酸和苯甲酸钠治疗;通过检测血氨,根据血气分析调整呼吸机参数,病情逐渐好转,逐渐下调呼吸机参数。治疗4d后撤离呼吸机,血氨降至75μmol.L-1。入院第9天逐渐开始母乳喂养,控制蛋白质摄入在1.0g.kg-1.d-1,口服精氨酸和苯甲酸钠降低血氨。住院第12天血氨降至34μmol.L-1,结合临床表现予以出院。患儿出院后予婴儿奶粉喂养,同时口服盐酸精氨酸和苯甲酸钠。患儿生后第33天行头颅MRI加权成像,可见大脑半球白质信号增高。生后45d体检,一般情况可,体重4.8kg,身长58cm,头围38cm,目前继续随访中。复习国内报道2例、国外报道的18例新生儿瓜氨酸血症患儿,7例在新生儿期死亡,1例在8月龄死亡,6例存活但存在神经系统发育障碍,6例存活且神经系统发育和生长发育正常。结论 1例存活的新生儿瓜氨酸血症病例目前生长发育正常,MRI提示脑白质软化,本例患儿的诊治经过为提高对新生儿瓜氨酸血症的认识和改善预后提供了一定的临床经验。     

儿童急性脊髓炎临床与磁共振成像

目的 探讨急性脊髓炎患儿脊髓ＭＲＩ特点及其与临床表现、诊断、鉴别诊断及预后的关系。方法 采用西门子ＭＡＧＥＴＯＭ１．５Ｔ ＭＲ机,对１６例病人于发病１月内行ＭＲＩ检查,并按肿胀程度分为轻重二型。结果 １．全部病人均见脊髓肿胀及Ｔ２ＷＩ异常信号,５０％病人Ｔ１ＷＩ见异常信号;２．受累节段长,平均５．６个椎体节段;３．ＭＲＩ显示病变上界比临床定位高;４．脊髓肿胀严重者预后差（Ｐ〈０．０５）。结论 脊髓     

脑性瘫痪的临床与磁共振成像

脑性瘫痪（简称脑瘫）是出生前到生后lmo内各种原因而致的非进行性脑损伤。影像诊断可为脑瘫病人提供客观的形态学改变证据，有助于脑瘫的治疗和预后估计［1,2］。本文分析72例脑瘫患儿临床和MRI资料，以提高对本病的认识。材料与方法一、临床资料：根据临床表现确诊的脑瘫患儿     

功能磁共振成像对阅读障碍者脑功能的研究进展

有关阅读障碍者脑功能及其机制的探索目前多采用影像学技术,其中功能磁共振研究当属前沿,并且分化出病理学原因和认知障碍原因两种观点,前者认为阅读障碍的基本病因为视觉初级神经过租的某种缺陷,而后者则强调阅读障碍是语言认知加工系统的功能障碍所致。本文就这两方面面的研究进展作一综述。     

小儿遗传性高氨血症三例临床和头颅MRI影像学特点

目的：探讨小儿遗传性高氨血症的病因、临床及影像学特征。方法对3例临床诊断为高氨血症患儿的临床表现、头MRI影像学、治疗等进行分析。结果3例高氨血症患儿均行遗传代谢病筛查明确病因为鸟氨酸氨甲酰基转移酶缺陷、瓜氨酸血症、甲基丙二酸血症,3例患儿临床表现差异较大,其中2例患儿早期行头颅MRI检查,弥散加权成像均提示高信号。早期积极对症治疗,1例患儿治疗效果较好。另2例患儿治疗效果差。结论对高氨血症患儿早期寻找病因,早期干预,对预后的判断至关重要。头MRI对高氨血症患儿的病因学判断有重要意义。     

氢质子磁共振波谱在高苯丙氨酸血症患儿脑苯丙氨酸浓度测量的临床意义

目的 应用氢质子磁共振波谱(1HMRS)检测高苯丙氨酸血症(HPA)患儿的脑苯丙氨酸(Phe)浓度,了解血Phe与脑Phe的关系和Phe对HPA患儿智力损伤的影响,探讨1HMRS的临床应用价值和意义.方法 32例未经治疗的HPA患儿,男18例,女14例,年龄33 d～13岁.全部患儿进行1HMRS检查,测量脑Phe浓度,并行血Phe浓度测定、智力评估.结果 (1)32例HPA患儿脑Phe浓度(以Phe/Cr的比值表示)为0.1542(0.0640～0.6296),血Phe浓度为1.5210(0.3804～2.5140)mmol/L.(2)HPA患儿的血Phe浓度与脑Phe浓度总体呈正相关关系(r=0.6103,P<0.01),4例患儿相关性较低.(3)32例中23例存在不同程度的智能发育障碍,其中极重度智能障碍4例、重度2例、中度7例、轻度10例.(4)22例大于4个月患儿血、脑Phe浓度与智商均呈负相关关系(r血=-0.5045,r脑=-0.6471,P<0.01).多元线性回归见脑Phe浓度较血浓度与智商的关系更紧密.结论 多数HPA患儿的血Phe浓度可以较好地反映脑Phe的浓度水平,少数存在较明显的个体差异性;大于4个月的HPA患儿血、脑Phe浓度可较好地反映智力损伤的程度,脑浓度的相关性更强.应用1HMRS可无创、定量检测HPA患者脑内Phe浓度,可进一步了解HPA患儿脑损伤程度.     

新生儿瓜氨酸血症Ⅰ型一家系基因分析

目的 分析新生儿瓜氨酸血症Ⅰ型家系的基因变异特征.方法 回顾分析1例新生儿瓜氨酸血症Ⅰ型患儿的临床资料,提取患儿及其父母外周血基因组DNA,采用二代测序技术进行基因检测,Sanger测序、生物信息学分析和定量PCR进一步验证测序结果.结果 女性患儿,出生后反应差、四肢不规则抖动、肌张力增高,逐渐出现呼吸衰竭;血氨、血乳...     

儿童抽动障碍脑磁共振成像研究进展

国内外对抽动障碍的研究涉及神经生化、神经心理学、神经影像学等多个领域.近年来磁共振成像研究为抽动障碍病因学研究提供了较多证据.结构磁共振研究发现基底核结构显著异常,额叶、枕叶皮质特别是感觉运动皮质变薄等.而功能磁共振方面则发现皮质-纹状体-丘脑-皮质环路功能异常,胼胝体纤维连接程度下降等.现就抽动障碍与磁共振成像、药物干预之间的关系进行综述.     

功能磁共振成像对阅读障碍者脑功能的研究进展

有关阅读障碍者脑功能及其机制的探索目前多采用影像学技术，其中功能磁共振研究当属前沿，并且分化出病理原因和认知障碍原因两种观点，前者认为阅读障碍的基本病因为视觉初级神经过程的某种缺陷，而后者则强调阅读障碍是语言认知加工系统的功能障碍所致。本文就这两方面面的研究进展作一综述。     

Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay

This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal urogenital anomalies. Fetal urogenital malformations account for 30%–50% of all anomalies discovered during pregnancy or at birth. They are usually detected by fetal ultrasound exams. However, when ultrasound data on their characteristics is insufficient, MRI is the best option for detecting other associated anomalies. The prognosis highly depends on their type and whether they are associated with other fetal abnormalities.     

新生儿颅脑磁共振检查临床实践的专家共识

颅脑磁共振成像（magnetic resonance imaging,MRI）技术的迅速发展为新生儿脑发育评估、脑损伤诊断和预后判断提供了客观依据,临床应用日益广泛。中国医师协会新生儿科医师分会基于国内外现有研究证据,结合临床实践经验,为新生儿颅脑MRI的适应证和临床实践规范制定专家共识,主要内容包括：（1）疑似新生儿缺氧缺血性脑病、颅内感染、脑卒中,以及原因不明惊厥者应行颅脑MRI;颅脑MRI不纳入早产儿常规脑损伤筛查管理,当颅脑超声筛查有明确损伤证据时应行颅脑MRI进一步评估;对于颅脑超声未见异常的超早产儿和超低出生体重儿,建议在纠正胎龄足月时行颅脑MRI;（2）新生儿颅脑MRI应尽量在非镇静状态下完成;（3）过程中需密切监测生命体征,优化检查条件,保障安全,危重患儿检查需严格评估检查的必要性,可应用磁共振兼容的转运培养箱和呼吸机;（4）目前新生儿颅脑MRI检查可选1.5 T或3.0 T设备,应用新生儿颅脑专用线圈以提高信噪比;常规扫描序列选择应遵循：至少包含轴位T1加权像、轴位T2加权像、弥散加权成像,以及矢状位T1加权像或T2加权像;（5）建议采用结构化或分级报告系统,通过双人审签报告、多中心协作等方式提高报告可靠性。     

体部磁共振频谱的研究进展及临床应用

在体部肿瘤的影像诊断中,磁共振成像（MRI）能提供肿瘤解剖信息,磁共振频谱（MRS）能提供肿瘤的生化信息,是目前唯一一种无创性研究人体正常或病理组织代谢、生化改变及化合物定量分析的方法。文章阐述了MRS的原理及体部MRS主要技术问题、体部^1H—MRS各代谢峰的意义以及活体MRS中化合物浓度的定量测定、体部肿瘤^1H—MRS的临床应用以及组织病理的相关性研究、磁共振频谱在肿瘤治疗后的应用及预后随访。利用^1H—MRS来检测并可作为对化疗敏感性的预测手段,特别是次甲基与胆碱比值对预测是否对细胞毒治疗敏感有重要意义。     

Course and clinical impact of magnetic resonance imaging findings in diabetes insipidus associated with Langerhans cell histiocytosis

BACKGROUND: Diabetes insipidus (DI) is the most frequent sequela in Langerhans cell histiocytosis (LCH). The clinical relevance and therapeutic impact of brain magnetic resonance imaging (MRI) findings in LCH patients with LCH during the disease course is unclear. PROCEDURE: In this retrospective study, we reviewed 113 brain MRIs from 59 DI patients, in 17 of these serial follow up MR-examination findings were correlated to the clinical course and therapy. RESULTS: At DI diagnosis, 71% patients showed a thickened stalk, in 24% the stalk was still thickened on MRIs done more than 5 years after DI onset, and in two patients the stalk was already thickened several months before DI onset. The changes of the pituitary stalk thickness were highly variable and did not clearly correlate with the treatment. Regression of pituitary thickness on MRI did not concur with clinical recovery of DI, which persisted in all but one patient with initially partial DI. The occurrence of anterior pituitary hormone deficiencies appeared to be linked to a thickening of the stalk at DI diagnosis. LCH-lesions in the craniofacial bones were seen in 75% DI patients, and 76% of DI patients with follow up MRIs done 5 years or longer after DI diagnosis had parenchymal neurodegenerative brain changes. CONCLUSIONS: Our study indicates that repeated MR-examinations in DI patients are of limited value for assessing a response to therapy in the pituitary stalk, but are important for the monitoring of craniofacial bone lesions and for the detection of parenchymal CNS disease.     

Leptomeningeal metastases in pediatrics: magnetic resonance image manifestations and correlation with cerebral spinal fluid cytology

Background: Detection of leptomeningeal metastases is fundamental to a complete evaluation of central nervous system (CNS) or non‐CNS tumor with suspected involvement of the neuroaxis. Our purpose was to assess the appearances of different magnetic resonance (MR) sequences in the diagnosis of leptomeningeal metastases and correlate those positive findings with the cerebral spinal fluid (CSF) cytology results. Methods: The authors reviewed the medical records and MR image manifestations of leptomeningeal metastases from 18 children who had positive MR findings and retrospectively correlated them with CSF cytologic results. There was a uniform MR protocol and the patients were examined with the same sequences. Results: The abnormalities included pial‐arachnoid disease (n= 16), disease coating the nerves (n= 12), hydrocephalus (n= 3) and subependymal metastases (n= 2). Enhanced T1 images were better than unenhanced fluid attenuated inversion recovery (FLAIR) and T2 to delineate cranial and spinal leptomeningeal metastases. In our sample, seven out of 18 cases were cytologically negative on a single lumbar puncture. Conclusions: Contrast‐enhanced MR imaging can be invaluable, detecting the false‐negative lumbar punctures. FLAIR and diffusion images can be helpful in diagnosing leptomeningeal metastases of non‐enhancing primary tumors. Prognosis was more related to the primary tumor type than to the leptomeningeal enhancement MR pattern.     

Polyneuritis cranialis with contrast enhancement of cranial nerves on magnetic resonance imaging

The disorder of multiple cranial nerve palsies without spinal cord involvement is referred to as polyneuritis cranialis (PC) and is rare. It is thought to be an acute post-infective polyneuropathy or a variant of Guillain-Barré syndrome. Electrophysiological evidence of demyelination has been reported, but no radiological abnormalities of the affected cranial nerves have been noted. We report a case of PC where contrast enhanced magnetic resonance imaging (MRI) showed enhancement of the peripheral segments of the oculomotor and abducens nerves. This case illustrates the utility of MRI in the assessment of cranial nerve palsies.     

Early diffusion-weighted magnetic resonance imaging findings in neonatal herpes encephalitis

Neonatal herpes encephalitis is usually caused by herpes simplex virus type 2 and results in significant morbidity and mortality. Imaging diagnosis with ultrasound, computed tomography scan and conventional magnetic resonance imaging may be normal in the early course of the disease. In this case diffusion-weighted magnetic resonance imaging detected the disease process earlier and better than the conventional T2-weighted or fluid-attenuated inversion recovery imaging sequences. The use of diffusion-weighted magnetic resonance imaging in neonatal herpes encephalitis proved to be a useful tool in the early stage of the disease.     

磁共振成像在儿童肝豆状核变性预后判断中的意义

目的探讨磁共振成像（MRI）在儿童肝豆状核变性（hepatolenticular degeneration,HLD）预后判断中的意义。方法对临床确诊为HLD的70例患儿应用MRI进行脑及肝常规序列扫描。其中25例予MRI动态观察,结合临床资料进行综合分析。结果70例患儿中48例显示脑或／和肝异常MRI。25例动态观察患者中12例MRI显示脑和肝异常信号,10例脑受累,3例肝受累。青霉胺剂量不足、初治年龄〉15岁或治疗前病程〉5年者,MRI病灶严重且改善缓慢或无变化。停药2个月以上MRI病灶即可重现,并伴有异常的神经系统症状和体征,但肝型患者可无临床症状和肝功能异常。动态MRI显示,治疗合理组临床及MRI病灶缓解率明显高于治疗不合理组;25例患儿经合理治疗1年以上临床及MRI逐渐好转直至消失,并都能正常学习与工作,13例缓解迁延及11例复发患者均存在治疗不合理因素,且MRI病灶严重,其中12／14例患者不能学习或工作。结论肝豆状核变性经合理治疗后,肝及脑部MRI异常信号可随临床改善而逐渐消失。治疗不合理者MRI病灶严重、改善缓慢、无变化或重现。MRI检查有助于肝豆状核变性预后的判断。     

小儿化脓性脑膜炎头部磁共振成像研究

目的 了解小儿化脓性脑膜炎(化脑)不同分期的磁共振成像(MRI)表现及动态变化,探讨MRI在化脑诊治方面的应用价值.方法 诊断的化脑患儿中,按头部MRI至少检查2次的标准,共选出9例患儿,对其临床资料及不同分期头部MRI成像结果 进行回顾性分析.结果 4例头部MRI检查结果 正常,5例头部MRI检查结果 异常.依据不同分期头部MRI的动态变化诊断出脑梗死、脑软化、脑积水、硬膜下积液、硬膜下积脓及硬膜下与硬膜外出血等并发症及合并症.结论 MRI不同分期表现能反映化脑患儿头部并发症情况,同时反映出上述病变的发展变化.化脑患儿临床病情轻重与头部MRI结果 不平行,其病情严重度评价应结合临床表现及头部MRI等进行综合分析.