儿童大脑型肾上腺脑白质营养不良15例

目的：加强对儿童大脑型肾上腺脑白质营养不良（ALD）的认识。方法：集中报道了1998-2001年确诊为ALD的15例患儿，并对其临床资料进行分析。结果：15例ALD中，男13例，女2例；起病年龄3-14岁；进行性视力减退13例；惊厥10例；听力下降、智力减退、共济失调各8例；瘫痪10例；皮肤黑染6例；3例出现肾上腺皮质功能减退表现。3例有阳性家族史。头颅CT示在侧脑室三角区周围出现对称性低密度区，呈蝶形分布，病灶周围呈花边状加强，病变从枕叶向前发展；MRI示在相同区域T1加权相为低信号，T2加权相为高信号。血皮质醇、尿游离皮质醇低于正常6/10例，明显减低2例。血清极长链脂肪酸测定1例，为异常。结论：儿童大脑型ALD多以不同程度的中枢神经系统功能障碍和肾上腺功能减退为主要表现，可伴皮肤发黑，部分患儿有家族史，结合典型CT或MRI表现多能作为临床诊断。     

肾上腺脑白质营养不良的临床和CT表现:附3例分析

本文报道3例。肾上腺脑白质营养不良,均为男孩。临床上有不同程度的四肢活动障碍、步态不稳、构音困难、语言减少及视力减退等,1例有全身皮肤变黑。3例CT所示,1例符合ALDI型,2例为混合型。本文讨论了CT表现同病理之间的关系;分析了CT诊断同临床间的关系;作者认为对于未出现肾上隙皮质功能不全症状者,CT具有使ALD同其它脱髓鞘疾病鉴别的作用。     

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。     

肾上腺脑白质营养不良23例临床与实验室分析

目的深化对肾上腺脑白质营养不良(ALD)的认识。方法分析1987~2005年确诊为ALD的23例患者的临床和实验室资料。结果23例ALD患者均为男性;起病年龄0~18.5岁;均有中枢神经系统和内分泌系统受累的表现。神经系统变化包括行为、认知异常和神经系统的阳性体征;内分泌系统表现包括肾上腺皮质功能的进行性减退和生长发育迟缓。其中10例患者有阳性家族史;22例有颅脑CT和MRI的特征性表现,以枕叶、顶叶、侧脑室、颞叶为主;14/15例患者有原发性肾上腺皮质功能减低。结论诊断ALD须结合家族史、临床特点、特异生化检查、神经影像学检查。推荐对ALD疑似病例首先进行皮质醇、ACTH实验及颅脑MRI检查。     

异染性脑白质营养不良的临床及实验室研究

评价异染性脑白质营养不良（MLD）的临床特征和白细胞芳基硫酸酯酶A（ASA）的诊断价值。方法对本院确诊6例MLD患儿临床与实验室检测资科进行分析。结果晚期婴儿型5例,发病年龄1～2．5a,少年型1例6a起病。患儿病前智力发育正常。起病表现均为步态异常,且进行性加重至双下肢或四肢呈痉挛性瘫痪,出现语言及智力倒退各3例。脑CT检查3例示双侧半球对称性低密度影,MRI5例示双侧大脑白质对称性长T1、长T2信号影。6例白细胞ASA活性缺乏或低下。结论进行性运动障碍,语言障碍及智力倒退为本病主要临床特征。CT／MRI脑白质的异常改变有助于诊断。确诊依据白细胞ASA活性减低。     

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。     

多发性硬化并球后视神经炎8例

目的了解儿童多发性硬化(MS)的临床特点。方法对8例MS患儿的临床资料进行回顾性分析。结果患儿视力下降8例,眼震3例,意向性震颤3例,中枢神经系统白质内有2个以上不同部位的病灶8例,病程在1年以上8例,有2次以上的缓解与复发8例,年龄除1例为5岁外余均大于10岁。结论视力减退,眼底正常,反复发作与缓解2次以上,病程超过1年的10岁以上儿童,CT和(或)MRI示中枢神经系统白质内超过2个以上部位病灶可考虑MS的诊断。     

GM2神经节苷脂沉积症的临床特征及诊断

目的 探讨以慢性进行性神经系统受累为主要表现的GM2神经节苷脂沉积症的临床特征、诊断及鉴别诊断.方法 对3例以慢性进行性神经系统受累为主要表现的GM2神经节苷脂沉积症患儿进行详细病史询问、体格及辅助检查,3例均行眼底、头颅MRI、氨基己糖苷酶(Hex)活性、脑电图、听觉诱发电位检查.结果 3例均表现为智力运动倒退,对声音刺激有异常惊跳反应;顽固性抽搐、共济失调各2例;锥体束征均阳性;眼底检查均发现樱桃红斑,视神经萎缩1例;头颅MRI示均有脑白质病变;脑干听觉诱发电位异常1例;脑电图见癫NFDF4波2例; Hex活性均下降.其中2例Tay-Sachs病患儿仅Hex A降低,1例Sandhoff患儿Hex A及Hex B均降低.结论 儿童进行性智力运动倒退伴异常惊跳反应、视力减退、眼底樱桃红斑、顽固性抽搐及共济失调是GM2神经节苷脂沉积症的临床特点.血白细胞Hex活性检测是确诊的重要依据.     

儿童急性播散性脑脊髓炎和多发性硬化23例临床分析

目的 探讨儿童中枢神经系统(CNS)脱髓鞘性疾病的临床特征。方法 总结10例急性播散性脑脊髓炎(ADEM)和13例多发性硬化(MS)患儿的临床及实验室检查特点,观察其转归。结果 ADEM与MS起病为发热、头晕、头痛(分别为3例、2例);意识障碍(分别为7例、2例);惊厥(分别为4例、1例)。ADEM起病为广泛CNS障碍,MS常为单一神经症状,以视力障碍多见。脑脊液(CSF)、脑电图(EEG)检查差异性不明显,MRI显示ADEM与MS丘脑病变(分别为4例、1例)。两组均有身体感觉诱发电位(SEP)、脑干听觉诱发电位(BAEP)异常;视觉诱发电位(VEP)异常(分别为1例、4例)。甲基强的松龙治疗ADEM治愈4例,好转5例,无复发;MS基本痊愈8例,好转5例,复发9例。结论 儿童脱髓鞘疾病:(1)多数与感染及预防接种有关;(2)临床多样化。临床表现为广泛CNS改变如意识障碍或惊厥,MRI示脑白质多发性病灶,尤其伴有丘脑病变者,应考虑ADEM;临床以单一神经症状起病,CNS至少有两处不相关联的白质病灶,有缓解与复发的特点,应考虑MS;(3)MRI为诊断本病的主要辅助手段之一;(4)糖皮质激素治疗有效,ADEM预后较好,MS易复发,预后较差。     

病毒性脑炎患儿的磁共振成像特点及其诊断价值

目的 探讨儿童病毒性脑炎的MRI特点及其诊断价值.方法 2002年5月-2007年10月确诊病毒性脑炎患儿42例.男27例,女15例;年龄1～14(6.32±3.89)岁.影像学检查时间为病程第1～21天.均行头颅CT及MRI平扫.统计MRI检查中累及不同部位的病例数,分析病灶的分布特点;比较二种影像学方法检出病灶的大小、数目,探讨儿童病毒性脑炎MRI与CT检查敏感性的差异.采用SPSS 11.0软件进行统计学分析,X2检验.结果 MRI检查42例均有阳性发现,累及大脑半球11例、基底核22例、丘脑26例、脑干23例、小脑3例,基底核、丘脑、脑干、小脑部位与大脑半球阳性检出率比较有显著差异(X2=4.141,10.868,7.115,5.486 P,<0.05).MRI共检出42例(38例多发病灶,4例单发病灶)169个病灶(直径0.3～11.0cm),CT检出17例45个病灶(直径0.8～11.0cm),MRI与CT检出病灶比较有显著性差异(X2=19.582 P<0.01).直径≤1.0cm的小病灶,MRI检出97个(57.40%),CT检出9个(20%).MRI T1WI共检出169个病灶中77个(45.56%),T2WI均清晰显示;直径≤1.0cm的小病灶,T1WI检出22个(22.68%),T2WI检出97个.结论 儿童病毒性脑炎病灶小且多发,易累及基底核区、丘脑及脑干,MRI诊断敏感性明显优于CT,且MRI中T2WI对诊断更有意义.     

10例异染性脑白质营养不良的临床特征及其诊断

目的 分析异染性脑白质营养不良（ＭＬＤ）的临床特征,评价头颅ＣＴ、ＭＲＩ及白细胞芳基硫酸酯酶Ａ（ＡＳＡ）对ＭＬＤ的诊断价值。方法 对１０例ＭＬＤ患儿临床与实验室资料进行分析。结果 （１）晚婴型６例,发病年龄为１０～３０个月,平均为１９个月;少年型４例,发病年龄迷４～８岁。（２）首发症状为步态异常（６例）、言语不清（２例）、易哭闹（１例）、惊厥（１例）。（３）除１例闰程短外,９例患儿起病后均表现为进     

Infantile Refsum disease: an inherited peroxisomal disorder

Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.Abbreviations IRD infantile Refsum disease - ZS Zellweger syndrome - NALD neonatal adrenoleukodystrophy - ERG electroretinogram - VEP visual evoked potentials - BAEP brainstem auditory evoked potentials - SSEP somatosensory evoked potentials - ACTH adrenocorticotropin hormone - VLCFA very long chain fatty acids - THCA trihydroxycoprostanoic acid - DHCA dihydroxycoprostanoic acid - DHAP-AT acyl-CoA: dihydroxyacetone phosphate acyltransferase     

白质消融性白质脑病临床分析

目的分析白质消融性白质脑病的临床特点及诊断方法。方法对9例临床诊断为该病的患儿的临床及头颅影像学特点、实验室检查等进行分析,结合病例对该病进行综述介绍。结果（1）临床表现：9例中8例出现神经系统症状和体征,1例仅有MRI异常。发病时间为生后6个月-3岁;5例家族史阳性,病前智力运动发育多正常;多以运动症状起病,下肢为著。6例发病前或每遇病情加重前有呼吸道感染史,3例病前有轻微头部外伤史;到目前为止,有症状的7例呈进行性加重病程,其中4例同时有发作性加重现象。所有病例智力受损相对轻。7例头围正常,8例有上运动单元病变体征,4例有共济失调体征。3例双侧视神经萎缩。（2）头颅MRI：表现为双侧对称弥漫性深部白质长T1长T2信号,可累及皮层下白质,额、顶叶为主,Flair像为对称性白质高信号伴部分白质低信号甚至囊性变或大部分白质低信号仅存少量线状稍高信号,为此症特征性改变。（3）其他遗传性白质脑病相关酶学或生化检查均正常。结论以运动障碍起病、运动障碍重于智力障碍、神经影像学改变显著重于临床表现、MRI表现为双侧对称弥漫性深部白质长T1长T2病变伴早期出现白质消融征象是本症的临床特点,临床诊断还需除外其他遗传性及获得性脑白质病。找到相应基因的致病突变可最终确诊。     

Clinical profile of adrenoleukodysrophy

X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of the very long chain fatty acid (VLCFA) oxidation leading to the accumulation of VLCFA in the white matter and adrenal cortex. Retrospective evaluation of medical records of ALD patients were carried out. In all the 5 patients the duration of the symptoms varied from 1–7 years. Most of them presented with Addisonian crisis (4/5) and hyperpigmentation (5/5), white half of them (3/5) had neurological symptoms. All patients had biochemical evidence of the adrenal insufficiency. All siblings of patients should be screened for the possibility of ALD with VLCFA.     

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??X-linked adrenoleukodystrophy??X-ALD?? is an inherited neurodegenerative disorder??involving mainly the white matter and axons of the central nervous system??the adrenal cortex and the testis. X-ALD is caused by a defect in the gene ABCD1 that maps to Xq 28 locus. The primary biochemical disorder is the accumulation of saturated very long chain fatty acids??VLCFA?? secondary to peroxisomal dysfunction. At least six distinct phenotypes have been described??and the most severe type is childhood cerebral adrenoleukodystrophy. When suspected??the diagnosis is established biochemically??and prenatal testing is possible in affected families. By far there is still lack of the effective treatment methods. The administration of a mixture of glyceryl trioleate and glyceryl trierucate??also referred to as Lorenzo’s Oil??has been shown to prevent disease progression in asymptomatic patients with cerebral involvement of X-ALD. Allogeneic hematopoietic stem cell transplantation??HSCT?? is the treatment of choice for individuals with early stages of the cerebral form of the disease. Once adrenal insufficiency is present??the hormonal replacement therapy is identical to that of autoimmune Addison’s disease.     

A milder variant of Zellweger syndrome

A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA: dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens.On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.Abbreviations ZS Zellweger syndrome - THCA trihydroxycoprostanoic acid - VLCFA very long chain fatty acids - DHAP-AT acyl CoA: dihydroxyacetone phosphate acyltransferase - NALD neonatal adrenoleukodystrophy     

Very Long-Chain Fatty Acids in Erythrocyte Membrane Phospholipids in Adrenoleukodystrophy

Mass fragmentography was used to analyze the very longchain fatty acid (VLCFA) composition of erythrocyte membrane phospholipids. The VLCFA content decreased in the order sphingomyelin (SM), phosphatidylcholine (PC) and phosphatidylethanolamine (PE). The tetracosanoic acid (C24:0) and hexacosanoic acid (C26:0) content of both SM and PC in patients with adrenoleukodystrophy (ALD) were significantly higher than those in controls. The VLCFA content of PE was too small, in comparison with those of SM, to be accurately determined. ( Acta Paediatr Jpn 1989;31: 136–143)     

Adrenoleukodystrophy: CT and MRI findings

A case of adrenoleukodystrophy (ALD) with CT and MRI findings is described. The CT scand showed low densities in the white matter of the parietal and occipital lobes. No calcifications were seen. Post-contrast CT showed an abnormal enhancement within the involved white matter. MRI showed changes of demyelination around the atria of the lateral ventricles bilaterally involving the posterior aspect of the cerebrum symmetrically. The posterior part of the posterior corpus callosum, splenium and pyramidal tracts also showed increased signal intensity. From a review of the literature, these findings are typical of the radiological changes seen in ALD. ALD can be diagnosed from typical history and biochemical changes as well as from CT and MRI findings.