急性淋巴细胞性白血病患儿化疗后的脑MRI表现

目的总结儿童急性淋巴细胞性白血病治疗后的脑MRI表现。方法用MRI检查急性淋巴细胞性白血病患儿化疗后脑实质的改变。结果脑MRI显示4例患儿脑白质病变,表现为侧脑室旁脑白质内对称T1低信号、T2高信号。8例患儿脑萎缩,表现为脑室扩大和脑沟增深。结论MRI对于显示白血病治疗后的脑内异常改变很敏感,急性淋巴细胞性白血病患儿治疗中和治疗后可选择性行头颅MRI检查以便及时发现病变和指导治疗。     

苯丙酮尿症患儿治疗前后脑白质病变的观察

目的：该研究应用MRI观察晚治苯丙酮尿症(PKU)患者治疗前后脑白质病变。方法：确诊为经典型PKU患者19例,进行低苯丙氨酸(PHE)饮食治疗随诊8～16月,治疗前后分别进行了头颅MRI及智商检查。头颅MRI采用常规矢状面、轴面T1W和轴面T2W扫描,对脑白质T2高信号病变按Thompson6级分级法进行分级并评分。观察比较治疗前后脑白质病变的改变。结果：9例晚治PKU患者头颅MRI均存在脑白质病变,其病变主要表现为侧脑室周围及三角区白质等区域存在孤立性斑片状异常T2高信号,治疗前后的平均MRI脑白质T2高信号分级分别为2.59和1.76,治疗前后MRI分级按分数计算,差异有显著性(P<0.01),治疗后T2高信号等级改善。19例均存在不同程度的智力发育落后,在智商改善与T2高信号等级改善可见部分一致关系。血PHE浓度与脑白质病变间有关。结论：晚治PKU患者脑白质病变及智力发育落后具高发生率,低苯丙氨酸饮食治疗降低血苯丙氨酸浓度后脑白质病变及智商均有部分改善,提示PKU患者脑白质病变及智力损害是部分可逆的,PKU患者脑白质改变可能是导致晚治PKU患者智能发育障碍的原因之一。     

激素耐药型肾病综合征伴不可逆性脑白质病变1例报告

目的分析儿童激素耐药型肾病综合征(SRNS)伴不可逆性脑白质病变的诊断和治疗。方法回顾性分析1例确诊为SRNS伴不可逆性脑白质病变患儿的临床、实验室及影像学资料,并复习相关文献。结果患儿临床诊断SRNS后给予激素、免疫抑制剂、血液透析等治疗10个月,病程中患儿反复出现抽搐、视力下降、高血压,头颅MRI显示双侧枕顶叶以及右侧额颞叶长T2信号,T2-Flair相可见双侧枕顶叶低信号影,提示脑软化灶伴胶质增生。结论多种原因可能诱发儿童脑白质病变,在SRNS治疗过程中需高度警惕不可逆性脑白质病变的发生。     

新生儿低血糖脑损伤早期MRI表现及其演变

目的 通过对低血糖患儿进行低血糖后早期、动态的MRI检查,结合临床特征探讨不同程度低血糖脑损伤患儿的MRI改变。方法 选取我院2005年5月至2013年7月以低血糖收入院,在低血糖后1周内完善首次常规MRI及弥散加权成像（diffusion-weighted imaging,DWI）检查确诊为新生儿低血糖脑损伤的患儿49例。其中34例在低血糖发生后2～3周完善第2次MRI检查,7例完善第3次MRI检查。结果 49例患儿首次MRI均有顶、枕部受累;顶、枕部受累为主33例,顶、枕部合并额叶、颞叶受累6例,弥漫性皮层及皮层下白质受累10例。均表现为受累部位DWI高信号,T1和T2加权像信号改变不明显。部分患儿合并深部脑白质及灰质受累表现。34例患儿第2次MRI检查,有20例表现为损伤部位DWI低信号,T1加权像低信号,T2加权像高信号,3例较前略吸收,11例未见异常信号。7例患儿完善第3次复查,分别出现脑软化,髓鞘发育落后,白质容积减小,胼胝体发育不良。对比不同程度脑损伤患儿的临床症状,发现临床症状较重者脑损伤也较重。结论 低血糖脑损伤具有顶、枕部易损性。低血糖后1周内完善DWI检查对急性期低血糖脑损伤有提示作用。MRI动态观察发现轻症损伤可恢复。损伤较重的患儿可出现坏死及脑软化。部分合并深部白质、灰质损伤的病例,不能除外缺氧缺血所致。     

急性淋巴细胞白血病患儿中可逆性脑病临床总结

目的探讨急性淋巴细胞白血病患儿化疗后可逆性脑病的临床和影像学特点。方法回顾分析2015年9月1日至2018年9月1日住院时发生脑病的急性淋巴细胞白血病患儿的临床资料。结果研究期间共收治新发急性淋巴细胞白血病582例,9例患儿发生10次可逆性脑病(1例患儿发生2次),其中男6例、女3例,脑病发生中位年龄6.55岁(3.9～12.5岁)。最常见的神经系统临床表现是抽搐,其次是肌无力和感觉异常。7例患儿曾接受培门冬治疗;5例患儿在脑病发生前有急性高血压病史;6例患儿在脑病发生时有低钠血症,部分有低纤维蛋白原血症。头颅磁共振成像检查均提示T1和T2信号异常,累及部位多见于顶枕叶。结论联合化疗、化疗药物鞘内注射和急性高血压是可逆性脑病发生的高危因素;监测血压、血钠、纤维蛋白原,以及头颅磁共振成像检查有助于早期发现可逆性脑病。     

苯丙酮尿症儿童脑部磁共振成像与临床生化的相关性

目的探讨苯丙酮尿症（PKU）患儿临床及生化与MRI异常改变的关系,评价常规MRI在PKU脑部病变中的价值。方法经临床生化证实为PKU患儿12例。其中4例为新生儿筛查证实,其后接受正规低苯丙氨酸（Phe）饮食治疗;8例未经任何治疗。12例均接受1.5TMRI扫描仪头部检查,应用T2WI、T1WI序列,且对T2WI上异常高信号进行分级,与智商（IQ）、血Phe质量浓度进行相关分析。结果未经治疗的PKU患儿均表现为脑白质T2WI异常高信号,呈斑片状、对称性分布,见于顶枕部脑室周白质。代表白质病变严重程度的MRI分级与血Phe质量浓度（r=-0.537 P〉0.05）及IQ（r=-0.279 P〉0.05）无相关性;血Phe质量浓度与IQ值亦无相关性（r=0.412 P〉0.05）。结论PKU患儿IQ低或血Phe高与常规T2WI上的异常范围并不成正比;常规MRI可很好显示PKU脑部病变,能为临床诊断及监控治疗提供帮助。     

脑室周围白质软化早产儿出生早期MRI表现及其演变

目的 探讨最终发展为脑室周围白质软化（periventricular leucomalacia,PVL）的早产儿出生早期头部MRI表现及其演变.方法 选取2010年1月至2013年12月中国医科大学附属盛京医院新生儿科住院经MRI确诊为PVL的患儿12例,所有病例均在生后2～7d（平均5.5d）及17～23 d（平均20.3 d）完成2次常规MRI及弥散加权成像（diffusion-weighted imaging,DWI）扫描.结果 最终被确诊的12例PVL患儿,初次扫描结果：全部病例DWI显示脑室周围白质高信号,其中6例弥漫、对称性高信号,3例线状高信号,3例簇状高信号,而常规MRI仅有5例显示T1加权像稍高信号,T2加权像稍低信号,余7例无改变;再次扫描结果：全部患儿脑室周围白质出现大小不等、数量不一的病灶,常规MRI显示T1加权像低信号,T2加权像高信号,相应病变部位DWI呈低信号.结论 早产儿出生早期,DWI对发现和预测PVL优于常规MRI;弥漫性脑白质损伤易发展为PVL,较严重的局灶性脑白质损伤,如多簇状、线状损伤也有发展成PVL的可能.     

磁共振弥散加权成像在早产儿脑室周围白质软化早期的预测价值

目的 探讨磁共振弥散加权成像(DWI)早期评价和预测早产儿脑室周围白质软化(PVL)的作用及意义.方法 回顾分析2005年8月至2007年4月,在我院新生儿科住院,且经头部MRI确诊的12例PVL早产儿生后7 d内、2 w和4 w的DWI及常规MRI资料.结果 初次检查(平均生后4.5 d)全部病例DWI均显示双侧脑室周围脑白质对称性、弥漫性高信号,常规MRI基本正常;出生后2周DWI示脑白质内不规则高、低混杂信号,而常规MRI则显示相应部位小片状或点状T1WI高信号,T2WI稍低信号;出生后4W DWI示侧脑室后角、枕部三角区大小不等的囊性低信号,常规MRI显示相应病灶的T1WI低信号,T2WI高信号(即囊性PVL改变);出生后4个月常规MRI示囊腔逐渐变小、消失,脑白质减少、脑室扩大.结论 DWI显示的双侧脑室周围白质对称性弥漫性高信号是PVL的最早期表现;所提供的影像学异常变化与晚期常规MRl所证实PVL发生的高度相关性,表明了DWI可能是早期评价脑白质损伤及预测早产儿PVL发生的重要检测手段.     

磁共振在儿童肺炎支原体脑炎中的临床应用

目的探讨磁共振成像(MRI)对支原体脑炎诊断的临床应用价值。方法应用以色列ELSINT GEREX MR仪2．0-T对7例支原体脑炎患儿行头颅MRI检查，分析影像学特点，探讨临床相关性。结果本组MRI表现有4种：脑皮质病变；脑白质病变为主不累及脑皮质；一侧血管病变导致同侧大脑半球病变；MRI正常。结论MRI检查有助于诊断支原体脑炎，并指导临床治疗。     

X-连锁肾上腺脑白质营养不良的临床研究

目的 研究X-连锁肾上腺脑白质营养不良（ALD）的临床,生化改变及遗传咨询情况。方法 对29例ALD患儿的病例资料进行综合分析,测定血浆极长链脂肪酸（very long chain fatty acids,VLCFA)及肾上腺皮质功能。结果 29例患儿中,儿童脑型22例,青春期脑型4例,肾上腺脊髓神经病型1例,Addison病型1例,无症状型或症状前型1例,生化检查提示血浆VLCFA升高;磁共振成像（MRI）表现为顶枕叶白质区对称性蝶翼状T1低,T2高信号,胼胝体压部受累,使左右两侧的病变区连成一片。病变向前累及双侧内囊后肢和颞叶,向下可累及脑干。增强扫描表现为病灶周边环状强化9例有家族史,家谱调查符合经典的性连锁隐性遗传,29个家系共有45名患者,同一个家族中可有不同类型的临床表型。29例患儿随访过程中9例死亡,死亡原因为中枢性呼吸衰竭,并发症等。结论 ALD不典型者可以抽搐起病,MRI表现为小脑白质异常信号。该病影响小儿智力。运动发育,尤以儿童脑型为重,几年之内可进展成痴呆,去大脑强直状态或死亡。     

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。     

Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I

In a male patient with hereditary tyrosinaemia type I (HTI), NTBC [2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion] treatment and a diet low in phenylalanine and tyrosine were started at the age of 4 wk. At the recommended average dosage (1 mg kg(-1)), liver failure improved transiently. After 4 mo of treatment, with increased body weight, the dose had decreased to 0.7 mg kg(-1), and diffuse cirrhotic changes in liver parenchyma and multiple nodules were visualized by ultrasonography. Multiple nodules in the liver parenchyma were differentiated from hepatocellular carcinoma by magnetic resonance imaging (MRI) using mangafodipir trisodium as a paramagnetic liver-specific contrast agent. Augmentation of NTBC dosage resulted in a decrease in serum alpha-fetoprotein levels and in significant regression of liver nodules on MRI. CONCLUSION: In HTI patients with a poor response to NTBC treatment and/or development of cirrhotic changes of liver parenchyma, augmentation of the recommended NTBC dosage may result in significant improvement of symptoms.     

Juvenile osteochondritis dissecans: a 5-year review of the natural history using clinical and MRI evaluation

BACKGROUND: Although MRI prognostic features for juvenile osteochondritis dissecans (JOCD) have been determined, the natural history of JOCD on serial MRI has not been fully documented. OBJECTIVES: To document the natural history of JOCD on serial MRI and to correlate this with arthroscopy and clinical outcome over a 5-year follow-up. MATERIALS AND METHODS: Twenty-one knees in 19 patients (15 boys, 4 girls; age range 5-15 years) with JOCD underwent MRI and clinical follow-up over 5 years. Lesions were classified as stable or unstable on MRI and compared with clinical and arthroscopic data. RESULTS: On 5-year follow-up, 17 of 19 patients were asymptomatic and 2 of 19 had minimal pain. Fourteen arthroscopies were performed on 11/21 knees. One of twenty-one had fragment fixation. On initial MRI, eight knees had marked fragmentation, high signal at the fragment/bone interface and incomplete defects in the hyaline cartilage (MRI stage III-stable), but no tear. Of these, five had arthroscopy, all confirming intact cartilage. One of twenty-one knees was unstable (MRI stage IVb) with a detached osteochondral fragment, requiring surgery. CONCLUSIONS: Despite extensive subchondral bone changes on MRI, all cases with intact cartilage (95%) improved with conservative treatment. Early MRI allows prompt diagnosis and institution of conservative treatment. This results in healing and avoidance of surgery in most patients.     

Marrow signal changes observed in follow-up whole-body MRI studies in children and young adults with neurofibromatosis type 1 treated with imatinib mesylate (Gleevec) for plexiform neurofibromas

Background

We observed bone marrow signal changes (BMSC) in patients with plexiform neurofibromas after treatment with imatinib mesylate (Gleevec).

Objective

To evaluate the pattern and natural history of BMSC.

Materials and methods

The data were obtained from a pilot study of imatinib mesylate in patients with plexiform neurofibromas. All patients underwent baseline and sequential whole-body STIR 1.5-T MRI after treatment. The bone marrow signal on MRI was evaluated for abnormalities, location and pattern, and any change on follow-up studies.

Results

The study group included 16 patients (8 males) with a median age of 14?years (range 4 to 25?years). The mean whole-body MRI follow-up duration was 1.9?years. Of the 16 patients, 14 (88%) developed BMSC. The signal change was asymmetrical in 9 of the 14 patients (64%). The appendicular skeleton was involved in all 14 patients and the axial skeleton in 3 patients (21%). BMSC was followed in 13 patients and decreased signal was seen in 9 patients (69%) after a mean duration of 1.3?years of treatment (range 0.6 to 2.9?years); no complications were observed.

Conclusion

BMSC appeared in most patients with neurofibromatosis type 1 following treatment with imatinib mesylate. BMSC was unusually asymmetrical and involved the lower extremities. On follow-up, BMSC often showed a decrease without complications.     

地拉罗司治疗重型β-地中海贫血铁过载患儿临床疗效及安全性研究

目的：探讨铁螯合剂地拉罗司（deferasirox,DFX）治疗重型β-地中海贫血（β-thalassemia major,β-TM）铁过载患儿的疗效及安全性。方法随机选择24例规律输血的β-TM铁过载患儿,参加DFX不同服药剂量的临床研究,调查血清铁蛋白（SF）的变化及不良反应。并将持续服用DFX 5年患儿与同期使用去铁胺联合去铁酮治疗患儿（对照组）的心脏MRI T2*、肝脏MRI T2*值进行比较。结果DFX每日20～30 mg/kg的起始剂量对于铁过载患儿无明显效果,加量至每日30～40 mg/kg 后SF水平下降显著(U=58,P＜0.01);不良反应以血清肝脏转氨酶升高最为常见,其次为血清肌酐非进行性升高。持续DFX 治疗5年组SF水平明显低于对照组（1748±481 ng/mL vs 3462±1744 ng/mL,P<0.05）;肝脏MRI T2* 值明显高于对照组（8.5±2.9 ms vs 2.7±1.9 ms,P<0.01）。两组心脏MRI T2*均值比较差异无统计学意义。结论DFX能显著降低β-TM 患儿SF水平,并显示出剂量依赖性变化;其对心脏铁负荷的减少未显示出明显优势,而对肝脏铁负荷的减低疗效显著。DFX治疗的不良反应以肝酶升高、血清肌酐非进行性升高为主。     

足月新生儿低血糖22例磁共振表现与临床特征

目的 探讨足月新生儿低血糖病例的MRI表现及临床特征的相关性。方法 回顾性分析2008年6月1日至2011年6月30日复旦大学附属儿科医院新生儿科收治的22例足月低血糖新生儿的病例资料,根据MRI检查结果分为低血糖MRI-组（n=9）和低血糖MRI+组（n=13）,分析两组低血糖新生儿的临床特征并描述低血糖MRI+组的MRI表现。结果 MRI-组和MRI+组在有无围生期高危因素中的差异无统计学意义（P=0.054）;MRI-组和MRI+组低血糖首次发现时间分别为1(0.5~17)h和46.6(12.7~78.3)h,两组差异有统计学意义P=0.000;MRI-组和MRI+组血糖正常并稳定的时间分别为（54.1±18.2）h和（71.6±15.1）h,两组差异有统计学意义P=0.023。出现症状的比例MRI+组高于MRI-组（P=0.000）。MRI+组中10例低血糖新生儿的MRI表现以累及双侧枕顶叶为主,3例不伴双侧枕顶叶损伤（1例累及单侧顶枕叶,2例为侧脑室旁和半卵圆中心斑点状白质损伤）。 结论 对于存在高危因素的低血糖新生儿,应早期筛查,定期监测;生后12 h内发现的低血糖新生儿可无症状,MRI可无脑损伤性改变;血糖正常并稳定的时间指标提示对低血糖脑损伤更要注意远期随访。双侧顶枕叶是新生儿低血糖脑损伤的主要受累部位。     

Imaging considerations of central nervous system manifestations in pediatric patients with neurofibromatosis type 1

CT and MRI were used in a prospective study of the central nervous system (CNS) manifestations in 41 consecutive children with neurofibromatosis type 1 (NF-1). Gadolinium-DTPA was used in 15 patients. MRI was more effective than CT in delimiting the extension of the optic pathway glioma and in evaluating associated cerebral malformations. MRI visualized lesions generally undetected by CT, in the form of iso- or hyperintense foci with respect to the cerebral cortex in T2-weighted sequences. Well-delimited lesions of high signal intensity were observed in the globus pallidus (22 cases), the internal capsule (6 cases), corpus callosum (2 cases), anterior commissure (1 case) and semioval center (2 cases). Poorly defined hyper- or isointense areas were also observed affecting the cerebellar white matter (21 cases) and brain stem (17 cases). None of these lesions showed Gadolinium-DTPA enhancement, and were of no clinical significance. MRI has displaced CT in the initial diagnosis of patients with NF-1. Periodic annual MRI controls are only justified in patients with MRI changes to evaluate the progression or stabilization of the lesions.     

Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging

Cranial magnetic resonance imaging (MRI) was performed in nine treated adolescents with hyperphenylalaninaemia (HPA) in order to analyse possible changes in myelination. Three patients suffered from type I HPA, four from type II and two from type III (persistent HPA). Images were obtained with a 1.5T unit using spin-echo-sequences. In all patients with type I or type II HPA, abnormal findings in the cerebral white matter were demonstrated including band-like and/or confluent patchy areas of high signal intensity predominantly in the peritrigonal region, with anterior and posterior periventricular extension and/or involvement of the subcortical white matter. The extent of MRI changes did not correlate with the initiation, duration or quality of dietary treatment. There was also no consistent relationship between electrophysiological changes and white matter abnormalities on MRI. Our findings suggest a disturbance of myelination in patients with treated HPA. These results correspond well with earlier neuropathological and biochemical studies in untreated patients.