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。     

高苯丙氨酸血症患儿尿中代谢物水平分析

目的通过检测高苯丙氨酸血症(HPA)患儿血苯丙氨酸(Phe)及尿苯丙酮酸、苯乙酸及苯乳酸水平,探讨其血Phe水平与尿代谢产物的关系。方法研究对象为55例HPA患儿,其中20例为轻度HPA(血Phe浓度<360 mmol/L)、35例为苯丙酮尿症(PKU,血Phe浓度360~1 200 mmol/L);血Phe水平检测采用串联质谱干血滤纸片法;尿苯丙酮酸、苯乙酸及苯乳酸水平检测采用尿素酶预处理气相色谱-质谱法。结果 HPA患儿血Phe水平与尿苯丙酮酸、苯乙酸及苯乳酸水平呈正相关(r=0.61~0.84,P均<0.01)。轻度HPA与PKU患儿尿苯丙酮酸、苯乙酸及苯乳酸水平差异有统计学意义(P均<0.01);70%轻度HPA患儿及5.71%PKU患儿的尿苯丙酮酸、苯乙酸及苯乳酸水平正常。结论 HPA患儿尿中苯丙酮酸、苯乙酸及苯乳酸水平的变化与血Phe浓度密切相关,单纯检测尿苯丙酮酸、苯乙酸及苯乳酸可能导致假阴性。     

伴或不伴头颅磁共振异常的抗N-甲基-D-天冬氨酸受体脑炎患儿的对比研究

目的 对头颅MRI异常或正常的抗N-甲基-D-天冬氨酸受体（NMDAR）脑炎患儿进行对比研究。方法 回顾性分析33例抗NMDAR脑炎患儿的临床特点,并比较头颅MRI异常或正常患儿之间的临床特点及预后差异。结果 33例患儿发生率前5位的首发症状依次为癫癎发作（61%）、不自主运动（61%）、语言障碍（54%）、精神行为异常（52%）和意识障碍（30%）。所有患儿的脑脊液抗NMDAR抗体均阳性,29例（88%）血清抗体阳性。脑脊液白细胞升高的15例（46%）,3例（9%）蛋白升高,寡克隆阳性29例（88%）。脑电图异常（癫癎波或慢波或合并存在）患儿26例（79%）。仅1例发生呼吸衰竭。1例在随诊过程中发现蝶鞍区生殖细胞瘤。33例患儿中头颅MRI异常的13例（39%）：T1WI表现为低信号或等信号、T2WI及T2-FLAIR表现为高信号,病变部位包括颞叶（38%）、额叶（23%）、基底节（23%）、顶叶（15%）、枕叶（15%）、脑干（15%）、丘脑和小脑（各8%）,其中以灰质病变为主者5例（38%）、白质病变为主者8例（62%）,2例患儿存在脑膜强化。头颅MRI异常患儿的前驱感染比例、意识障碍发生率、病情反复的几率、Glasgow严重评分、脑脊液白细胞升高发生率、二线治疗的应用率均高于头颅MRI正常的患儿,差异具有统计学意义（P < 0.05）。结论 头颅MRI异常的抗NMDAR脑炎患儿具有某些临床特点,这些特点对于病情的判断和诊疗措施的选择具有一定的指导意义。     

新生儿低血糖性脑损伤磁共振成像动态变化研究

目的探讨弥散加权成像（DWI）、常规磁共振成像（MRI）在新生儿低血糖性脑损伤不同阶段的动态变化。方法回顾分析了2005年9月至2008年9月,中国医科大学附属盛京医院新生儿科收治的经MRI确诊的20例低血糖性脑损伤患儿（病例组）的临床资料,并随机选取同期住院MRI正常的20例单纯性低血糖患儿为对照组。 结果病例组平均最低血糖值低于对照组（P < 0.01）,低血糖持续时间长于对照组（P < 0.01）。病例组于低血糖发生后3.8（1～11）d完成首次MRI检查,受累部位主要为枕叶11例、枕顶叶8例,顶叶1例,受累部位在DWI均表现为高信号,常规MRI相应部位12例表现为T1加权成像（T1WI）、T2加权成像（T2WI）正常信号,仅6例表现为T1WI低信号、T2WI高信号;11例于首次检查后11.4（8～15）d完成第2次MRI检查,首次检查受累部位DWI 7例转为正常信号,4例低信号,常规MRI均表现为T1WI低信号、T2WI高信号。3例于6个月随访,提示枕叶DWI正常信号,T1WI低信号、T2WI高信号。结论新生儿低血糖性脑损伤早期DWI表现为异常高信号的部位,与晚期常规MRI表现为T1WI低信号、T2WI高信号的部位一致,这种一致性提示DWI异常高信号对于低血糖性脑损伤早期病情判断具有一定价值。     

弥散加权成像在新生儿重度缺氧缺血性脑病早期评价中的意义

目的探索新生儿重度缺氧缺血性脑病（HIE）早期弥散加权成像（DWI）动态演变规律及其意义。方法对2006年1月至2007年2月收住我院14例重度HIE患儿,分别于生后72h。7、14、21d及8个月行DWI及常规MRI扫描。结果72h内,常规MRI的T1加权（T1WI）和T2加权（T2WI）均未见异常,DWI表现为双侧腹外侧丘脑对称性的高信号;7d常规MRI表现双侧腹外侧丘脑对称性T1WI高信号,T2WI稍低信号,DWI表现为双侧基底节高信号,而初期腹外侧丘脑高信号消失;14d常规MRI双侧丘脑、基底节对称性T1WI高信号,T2WI低信号;21d常规MRI双侧丘脑及基底节T1WI高信号,T2WI高信号,DWI则未见明显异常;8个月常规MRI脑沟变深、脑室扩大及脑外间隙增宽,基底节T2WI不规则的高信号。结论重度HIE（主要因急性的完全性窒息所致）生后初期DWI显示相同的病变部位（腹外侧丘脑和基底节）和相似的病变程度,但其异常信号很快消失,而常规MRI可继之弥补DWI的不足。     

连云港地区新生儿先天性甲状腺功能减低症及苯丙酮尿症筛查分析

目的 探讨连云港地区新生儿先天性甲状腺功能减退症（CH）及苯丙酮尿症（PKU）发病及分布特征。方法 采集生后72h新生儿155091例足跟血于干血滤纸片上。PKU采用盖氏细菌抑制法测血苯丙氨酸（Phe）水平、CH采用酶联免疫吸附试验（ELISA）或时间分辨荧光免疫法（TRFIA）测促甲状腺素（TSH）作为筛查指标。结果 确诊CH患儿64例，发病率4．126／万（1：2423）：经甲状腺核素显像41例，其中甲状腺异常23例（56％）；64例分布在全市的4县3个城区的45个乡镇（街道），男女性别和城乡发病率均无差异（P均〉0．05），发现1对双胞胎CH患儿；确诊苯丙酮尿症患儿15例，发病率为0．967／万（1：10339）：以上患儿父母未见近亲结婚和显性遗传家族史，母孕期正常，经干预治疗，患儿身体和智力发育与同龄儿比较无显著差异。结论 CH、PKU在连云港地区呈散发性分布，进行新生儿筛查是发现CH、PKU的唯一有效手段。     

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.     

磁共振弥散加权成像在病毒性脑炎诊断中的应用

目的探讨磁共振弥散加权成像(DWI)在病毒性脑炎诊断中的价值。方法对20例诊断病毒性脑炎患儿行常规磁共振成像(T2WI-T1WI)和DWI检查,比较3种成像的异常率和发现的病变部位。结果DWI异常率明显高于T1WI(χ2=4.44 P<0.05),而DWI和T2WI的异常率无明显差异(χ2=1.20 P>0.05)。12例病后1周内同时作T1WI、T2WI和DWI检查,5例T1WI和2例T2WI正常者DWI均显示异常;2例T2WI与DWI发现的病灶部位数相同,8例DWI发现的病灶部位数多于T1WI和T2WI。5例于发病1周后同时作T1WI、T2WI和DWI检查,三者异常率相同,发现的病变部位也基本相同。14例发病10~35 d复查MRI,多数未能恢复正常。结论DWI对发现病毒性脑炎急性期的病灶较T1WI或T2WI敏感,DWI在急性病毒性脑炎的诊断中具有重要价值。     

GM1神经节苷脂沉积病致病基因GLB1新变异c.101T>C(p.Ile34Thr)的识别和致病性分析

单唾液酸四己糖神经节苷脂（GM1）神经节苷脂沉积病是由半乳糖苷酶beta-1（GLB1）基因变异影响GLB活性所致的常染色体隐性遗传病,GLB功能缺陷造成GM1降解障碍而在溶酶体贮积。该文报道1例GM1神经节苷脂沉积病患儿的临床及遗传学特点。患儿,女,2岁5个月,因运动发育倒退1年余就诊。体格检查发现双眼球偏斜伴水平震颤,眼底镜检查无异常,四肢肌张力高,肘、膝、踝关节活动受限,膝腱反射亢进。血生化检查发现AST明显升高。24小时脑电图监测到频繁癫痫发作,弥漫性θ波活动增多,以右半球显著。头颅MRI显示双侧脑室周围白质变薄并见弥漫性T2WI高信号影,边界不清;白质纤维束三维重建（DTI）提示双侧大脑半球白质纤维束细小、稀疏,以右侧为著。遗传学分析发现患儿GLB1基因存在来自于其父母的c.446C > T（p.Ser149Phe）和c.101T > C（p.Ile34Thr）复合杂合突变,其中c.101T > C（p.Ile34Thr）未见文献报道。患儿最终确诊为GM1神经节苷脂沉积病。予抗癫痫和康复训练等对症支持治疗2个月,病情未见好转。     

四氢生物蝶呤负荷试验诊断四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的临床研究

目的探讨四氢生物蝶呤(BH4)反应性苯丙氨酸羟化酶(PAH)缺乏症的临床诊断方法,进一步了解其临床特征,为该型患儿应用BH4药物治疗提供科学依据。方法73例高苯丙氨酸血症(HPA)患儿,男47例,女26例,平均年龄1.93个月。所有患儿都进行口服BH4负荷试验,同时进行尿蝶呤谱分析、红细胞二氢蝶啶还原酶测定。对其中血苯丙氨酸(Phe)浓度<600μmol/L者给予口服Phe BH4联合负荷试验,对部分BH4反应性PAH缺乏症患儿,在普食条件下给予BH4片剂(10～20mg/kg)替代治疗6～7天,观察其疗效。结果(1)在BH4负荷试验中,不同类型HPA患儿的血Phe浓度表现出特征性的曲线改变,22例诊断为经典型苯丙酮尿症(PKU),39例中度PKU,12例四氢生物蝶呤缺乏症;(2)在中度PKU患儿中发现22例(56.4%)对BH4有反应;(3)6例BH4反应性PAH缺乏症患儿以BH410mg/kg治疗6～7天,其中4例血Phe浓度能控制到正常或接近正常治疗水平,另2例BH4需增加到20mg/kg使Phe浓度显著下降。结论在BH4负荷试验中,部分因苯丙氨酸羟化酶缺乏引起的中轻度PKU患儿对BH4有反应性,给予这些患儿BH4治疗可部分或全部替代低苯丙氨酸饮食治疗,拓宽了PKU的治疗方法,有助于提高患儿的生活质量。     

治疗延迟的苯丙酮尿症患儿脑髓鞘发育延迟与智力发育的研究

目的　应用磁共振成像(MRI)观察苯丙酮尿症(PKU)治疗延迟患儿治疗前后脑髓鞘发育延迟与智商的关系。方法　2 0 0 2～2 0 0 3年中日友好医院确诊经典型治疗延迟PKU患儿1 7例,治疗前后分别进行头颅MRI及智商检查,脑髓鞘发育按Staudt标准对不同年龄阶段患儿1 0个脑区域进行量化评估。智商检测采用Gesell发育量表测定。结果　治疗前所有病例存在脑髓鞘发育延迟,在1 0个脑区域脑髓鞘发育延迟平均发生率为44 . 7% ,主要部位在脑叶和胼胝体,并存在不同程度的智力发育落后,平均智商为44 .2 ;经低苯丙氨酸饮食治疗1年后,1 0个脑区域髓鞘发育延迟平均发生率为3 0 . 6% ,平均智商为60 . 6;治疗前、后脑髓鞘延迟改善有显著性(P <0. 0 1 ) ,平均智商改善有统计学意义(P <0. 0 5) ,且智商改善率与髓鞘延迟改善率间可见部分相关性。结论　治疗延迟的PKU患儿的脑髓鞘发育延迟及智力发育落后发生率较高,经低苯丙氨酸饮食治疗可使其在一定程度有所改善,但不能达到完全正常,提示脑髓鞘发育延迟可能是导致PKU患儿智力发育落后的原因之一。     

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目的应用MRI观察苯丙酮尿症(PKU)患儿脑髓鞘发育延迟与血苯丙氨酸(PHE)浓度的关系。方法对2002—2004年北京中日友好医院PKU门诊确诊的经典型PKU患儿29例,治疗前进行头颅MRI及血苯丙氨酸浓度检查,脑髓鞘发育按Staudt标准对不同年龄阶段患儿脑10个区域进行量化评估。HPLC法定量测定血PHE浓度。根据开始接受治疗年龄不同分为甲(28~48周,11例)、乙(49~390周,18例)两组,另随机选取其中19例治疗1年后复查MRI进行治疗前后对照,根据该19例治疗中血苯丙氨酸浓度控制情况分为A组(血PHE控制在0.12~0.48mmol/L)和B组(血PHE控制在0.12~0.48mmol/L以外)。结果29例患儿治疗前均存在髓鞘发育延迟,在10个脑区域髓鞘发育延迟平均发生率为45.6%,主要部位在脑叶和胼胝体,其中甲组髓鞘发育延迟平均发生率为40.8%,乙组发生率为51.2%,甲乙组间差异有显著性意义(P<0.05);经低苯丙氨酸饮食治疗1年后,19例10个脑区域髓鞘发育延迟平均发生率为32.2%;治疗前后髓鞘延迟有显著性改善(P<0.01),且治疗中血PHE浓度控制较好的A组髓鞘延迟改善率为1.75±0.66,B组病例为0.78±0.44,差异有显著性(P<0.01),髓鞘延迟改善与血PHE浓度间有密切相关性。结论治疗延迟的PKU患儿的脑髓鞘发育延迟的高发病率,与高血PHE浓度影响时间有关;经低苯丙氨酸饮食治疗延迟的改善率,与治疗中血PHE浓度控制情况直接影响延迟改善,因此提示PKU患儿血PHE浓度是影响脑髓鞘发育延迟发生及改善的重要原因。     

Intelligence in mild atypical phenylketonuria

In 82 children with mild phenylketonuria (PKU) (blood phenylalanine (Phe) concentrations consistently below 900 mol/l throughout follow up) the relationship between intelligence at age 4 (IQ by Stanford-Binet) and average blood Phe concentrations from birth to 4 years was examined. Of the 82 children 24 had received no treatment. In the group as a whole, and in the 24 untreated subjects alone, mean IQs were significantly below population norms, with deficits of approximately 4.5 points and 9 points respectively. After allowing for social class IQ fell progressively by approximately 6 points for each 100 mol/l rise in mean Phe concentrations in both the treated and untreated subjects. This relationship resembled that previously reported in early treated children with more severe forms of PKU, except that the scale of the relationship was even greater. We conclude that all children whose blood Phe concentrations reach 400 mol/l or above should receive a low Phe diet, at least during the pre-school years, and that the aim should be to control blood Phe levels below 400 mol/l throughout early childhood in all forms of PKU.     

Maternal phenylketonuria in Western Australia: pregnancy outcomes and developmental outcomes in offspring

OBJECTIVE: To examine the outcomes of phenylketonuric (PKU) pregnancies in Western Australia including birth characteristics and cognitive and behavioural outcomes in offspring. METHODS: A cross-sectional study of women and their offspring who were identified from the Western Australian Maternal PKU Program (WAMPKUP) from 1991 to 2000 was carried out. Cognitive assessments (K-BIT or Griffiths scales) were conducted on women and their children, and behavioural assessments (CBCL) were conducted on the children. RESULTS: Thirty pregnancies by nine women were registered on the WAMPKUP between 1991 and 2000. There were 16 live births, with one preterm delivery at 32 weeks. There were no congenital abnormalities. Five of the nine mothers and their nine children (aged 18 months-10 years) participated in developmental assessments. A linear relationship was shown between lower maternal IQ scores and later attainment of metabolic control in pregnancy (rs = -0.828; P = 0.01). There was significant correlation between lower offspring IQ scores and later attainment of metabolic control in pregnancy (rs = -0.734; P = 0.02). Correlation between maternal and offspring cognitive scores was not significant. Four of nine (44%) children rated in the clinical range for behavioural problems. Compared to children with no behavioural difficulties, these children had lower cognitive abilities (P = 0.05) and maternal metabolic control during pregnancy was poor (P = 0.05). CONCLUSIONS: Poor metabolic control in pregnancy is associated with poorer cognitive outcomes and increased behavioural difficulties in offspring of mothers with PKU. The results have implications for the implementation of appropriate dietary measures before conception in PKU pregnancies, and indicate a need for the establishment of multidisciplinary teams to follow up individuals with PKU to communicate the importance of pregnancy planning, to manage PKU pregnancies, and to follow up the offspring.     

Fast spin-echo MR imaging of the pediatric brain

On a 1.5-T MR unit conventional spin-echo (CSE) and fast spin-echo (FSE) images were obtained in 70 consecutive children ranging from 4 days to 13 years in age. They suffered from developmental retardation, neurodegenerative, ischemic or inflammatory diseases. In our prospective study artifacts, lesion conspicuity and general impression were compared between double-echo (proton density- and T2-weighted) CSE and single-echo (T2-weighted) FSE images. Phase artifacts from flowing blood were seen rarely on the FSE images, while motion artifacts appeared more frequently. Assessment of myelination in 43 children with unfinished myelination revealed no difference between FSE and CSE. The lesion conspicuity in 20 children with focal abnormalities compared favorably between FSE and CSE. There was no diagnostically relevant difference between FSE and CSE, although in FSE spin density images were missing. FSE sequences can be used in MR imaging of the pediatric brain without disadvantage and with a time reduction of 67–75%.     

Magnetic resonance imaging and T2 relaxometry of cerebral white matter and hippocampus in children born preterm

The objective of this study was to determine whether intelligence and minor motor impairments in children who are born preterm without major disability are associated with cerebral white matter (CWM) and hippocampal abnormalities on magnetic resonance imaging (MRI). A total of 103 preterm children were studied at age 7 y with detailed magnetic resonance brain scans, including a T2-mapping sequence from which T2 relaxation times of the CWM and hippocampal formations were calculated. All of the children had no major motor disability, attended normal school, and had undergone assessment of IQ and a test for minor motor impairment (MMI). Twenty children had visible lesions on MRI, which were associated with lower IQ and more frequent MMI. Mean (SD) IQ was 90 (14.1). Twenty-five children were shown to have MMI (Movement ABC at below the fifth centile). This group was shown to have significantly longer T2 relaxation times for CWM (mean difference 2.1 ms right, 3.1 ms left) but not the hippocampus than the children without MMI. These differences persisted when only children without visible lesions on scans were considered (mean difference 1.5 ms bilaterally). There was no significant correlation between IQ and T2 relaxation times. Children who are born preterm without subsequent major neurodisability may, in addition to visible lesions on MRI scans, have a diffuse abnormality of CWM, manifest as an increase in T2 relaxation time. This abnormality shows a close correlation with minor motor impairment but not with full-scale IQ.     

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.     

High-field diffusion tensor imaging characterization of cerebral white matter injury in lipopolysaccharide-exposed fetal sheep

Background:In gyrencephalic species such as sheep, precise anatomical and microstructural characterization of the consequences of fetal inflammation remains scarce. The goal of this study was to characterize changes in white matter (WM) structure using advanced magnetic resonance imaging (MRI) following lipopolysaccharide (LPS) exposure in the preterm-equivalent fetal sheep.Methods:Preterm (0.7 gestation) fetal sheep received vehicle (Sham group) or LPS (LPS group), and fetal brains were collected 10 d later for subsequent ex vivo MRI. T(1)-weighted (T(1)W), T(2)-weighted (T(2)W), and diffusion tensor imaging (DTI) data were collected.Results:Fetuses exposed to LPS exhibited reductions in WM volume and corpus callosum thickness at 10 d recovery. Characteristic patterns of diffuse and focal WM lesions (necrosis or cysts) could be identified by various T(1), T(2), and DTI signal changes.Conclusion:Fetal LPS exposure induces a pattern of injury characterized by diffuse and focal WM injury that closely reproduces that observed clinically in preterm infants. This work provides anatomical and microstructural MRI assessment, as well as histopathological correlates, of the consequences of LPS exposure in an animal model with a WM structure similar to that of the human brain. This work will help to further our understanding of MRI changes in preterm infants.     

Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 11 after birth, he had a generalized tonic seizure. No evidence of serum electrolyte abnormalities was observed. Brain MRI revealed white matter abnormalities that consisted of bilateral small diffuse hyperintensities on T1-weighted images with slightly low intensity on T2-weighted images in the watershed area. Several factors associated with brain white matter abnormalities in adults with CAH, such as increasing age, hypertension, diabetes and corticosteroid replacement, were not applicable. Although the cause of the phenomenon in this case is unclear, brain white matter abnormality could be observed in newborn infants with CAH as well as in adult patients.