肾上腺脑白质营养不良的临床特征

目的探讨肾上腺脑白质营养不良（ALD）的临床特征。方法对4例男性ALD患者的临床资料进行回顾性分析。结果发病年龄7～11岁,均有智能下降、肢体无力,3例伴言语不清、共济失调,2例伴视听力下降,1例伴视神经萎缩、癫痈发作,血睾酮降低及血17-羟类固醇降低各1例,B超示双侧睾丸弥漫性病变、脑活检示类脂质沉积病各1例,4例磁共振（MRI）均见双侧枕项叶对称性蝶翼状长T1、长T2信号灶,可累及颞叶、内囊和脑干白质。结论ALD以儿童脑型常见,主要表现为智能下降、肢体无力、言语不清、共济失调、视听力下降及癫痈发作等症状,可伴有视神经萎缩、肾上腺皮质及睾丸损害,依据临床症状和典型的MRI表现可以进行临床诊断。     

成人肾上腺脑白质营养不良

报道２例经病理证实的成人肾上腺脑白质营养不良病例。患者均呈进行性痴呆，皮质盲，去皮层状态。分别于病后６个月，１８个月死亡。例１行脑组织极长链脂肪酸含量及其比值测定。结果明显高于对照组，从而肯定了诊断。     

肾上腺脑白质营养不良的临床特点

目的探讨肾上腺脑白质营养不良(ALD)的临床特点。方法回顾性分析14例ALD患者的临床资料。结果本组14例ALD患者均为男童,起病年龄1～13岁,缓慢起病,临床上均有不同程度的智力障碍和肢体活动障碍,其中9例视力下降,6例听力下降,13例言语不清,5例有抽搐发作,6例皮肤色素沉着;5例血浆极长链脂肪酸(VLCFA)不同程度增高,2例头颅CT、12例头颅MRI显示双侧脑室三角区周围白质对称分布的蝶形病灶,3例增强扫描示部分病灶周围花边样强化条带。结论ALD临床特点为进行性智力及肢体运动障碍、视力及听力下降、肾上腺皮质功能减低、血浆VLCFA水平增高及特征性的头颅影像学改变。     

成人肾上腺脑白质营养不良

报道２例经病理证实的成人肾上腺脑白质营养不良病例。患者均呈进行性痴呆、皮质盲、去皮层状态。分别于病后６个月、１８个月死亡。例１行脑组织极长链脂肪酸含量及其比值测定。结果明显高于对照组，从而肯定了诊断。     

肾上腺脑白质营养不良2例

肾上腺脑白质营养不良（AdrenoleukodystrophyALD）是罕见的X连锁隐性遗传脂质代谢病,预后不良。自从MRI技术在小儿神经病应用以来,并结合临床及实验室检查．本病较前容易诊断。笔者特报告2例,并进行讨论。l、病例摘要例一、男,5岁,因反复惊厥1年入院。患儿子2岁开始面部外生殖器皮肤颜色逐渐加深,2岁半时又开始智力逐渐落后,且已形成的智力开始倒退,言语断续而含糊,行走困难,1年来,又有惊厥,以四肢抽动为主,不呕吐,不伴发热。查体：神志清,反应迟钝,站立不稳,不能行走。全身皮肤颜色呈褐色,无皮疹,面部对称,四肢肌…     

肾上腺脑白质营养不良一例

1病例报告患儿男性,10岁,因"渐进性智能减退13个月,吞咽困难1个月"于2009年9月15日入作者医院。2008年8月患儿学习成绩下降,近记忆力减退,敏感、暴躁,间断哭闹,视力、听力均减退,言语减少;同年11月出现     

肾上腺脑白质营养不良的临床表现

目的:报告2例肾上腺脑白质营养不良病例及其家系调查。方法:复习2例临床资料,结合文献进行分析。结果:肾上腺脑白质营养不良可有多种临床类型,起病于儿童的进行性精神迟滞、视力障碍及肾上腺皮质功能减退,应考虑到肾上腺脑白质营养不良的可能。结论:肾上腺脑白质营养不良的诊断需要结合临床表现及影像学检查,尤其是血中含C2 2 以上极长链饱和脂肪酸的水平增高是确诊的重要依据。其治疗以骨髓移植疗效较肯定,基因治疗尚待进一步探讨。     

肾上腺脑白质营养不良1例报告

患儿 ,男 ,5岁 ,因四肢不自主抽动 ,易摔跤 2年来诊。患儿足月顺产。 3岁会走路、说话 ,走路时右腿拖动易摔跤 ,跑跳较同龄儿慢 ,伴四肢不自主抽动 ,症状渐加重。无智能及视力障碍。家族史 :父母非近亲结婚 ,父亲 2 0岁时右上肢亦不自主抽动 ,且面色发黑、智能稍差。查体 :神清 ,体格发育正常 ,头颅及面部器官无畸型 ,全身皮肤色深 ,面部尤重 ,血压6 0 / 40 mm Hg,肝脾不大。智能正常 ,颅神经正常 ,可见四肢肌阵挛 ,双下肢肌力 4级 ,双上肢肌力正常 ,四肢肌张力正常 ,共济无异常 ,深浅感觉无异常 ,双侧跟、膝腱反射亢进 ,右Babinski's( +) …     

肾上腺脑白质营养不良的研究进展

肾上腺脑白质营养不良(ALD)是最常见的先天性过氧化物酶体疾病,本文对其近几年在病因、病理、发病机制、临床表现、辅助检查及治疗方法的研究进展作一综述。     

肾上腺脑白质营养不良1例报告及文献复习

肾上腺脑白质营养不良（Adreno－leucodystrophy简称ALD）是常染色体隐性遗传性疾病，其特征为脑白质进行性脱髓鞘，肾上腺皮质功能低下及组织中饱和极长链脂肪酸病理性堆积［’j。本文报告1例并结合文献对其临床特＆进行讨论。临床资料患者徐某，男，32岁，住院号141609。因精神异常4年、伴视物不清加重1月，于199711．5日收住院治疗。患者在4～5岁时，在一次患病后（具体患病情况不详），其家人发现其面色及体表皮肤黝黑，以后身体一直较“虚弱”且易患“感冒”。上学后对体育不感兴趣，16岁后更不喜爱活动，平时活动后易疲劳，耐力不如…     

Screening of patients with hereditary spastic paraparesis and Addison''s disease for adrenoleukodystrophy/adrenomyeloneuropathy

X-linked adrenoleukodystrophy/adrenomyeloneuropathy presents a wide variation of clinical manifestations and may mimic several diseases. A screening investigation by measuring plasma saturated very long-chain fatty acids was performed in two groups of patients. Among six patients with hereditary spastic paraparesis one woman was detected to be a heterozygous gene carrier. However, in a group of eleven adult men with idiopathic Addison's disease the plasma concentrations of very long-chain fatty acids were all within normal limits. We conclude that X-linked adrenoleukodystrophy and symptomatic heterozygous females should be considered in cases of progressive spastic paraparesis.     

A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy

Summary The pathological findings for a sural nerve biopsy specimen in a case of neonatal adrenoleukodystrophy are described. The density and total number of myelinated fibers in the patient showed no significant changes compared with controls. On electric microscopy, however, thickness of the myelin was smaller in the patient than in controls. Some linear or trilamellar inclusion bodies were found in Schwann cells and fibroblasts, similar to those found in X-linked adrenoleukodystrophy. Büngner's bands were also seen on electron microscopy, and myelin ovoids and balls were seen in teased fibers. These results show that a sural nerve biopsy is useful for the diagnosis of neonatal adrenoleukodystrophy. We suspect that axonal or neuronal degeneration occurs with changes in myelin in neonatal adrenoleukodystrophy.     

Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: Comparison with magnetic resonance imaging and clinical findings

We studied 6 patients with adrenomyeloneuropathy (AMN) showing mild signs of central nervous system involvement. All patients underwent brain and spinal magnetic resonance imaging (MRI) and somatosensory (SEP) and motor (MEP) evoked potential study. Whereas SEPs and MEPs were abnormal in all patients, only 1 patient showed brain MRI abnormalities; spinal MRI showed hypotrophy without focal abnormalities in 4 of 6 patients. Median nerve SEPs, which were recorded with noncephalic reference montage, revealed delayed or absent scalp P14 far-field potential in all patients and abnormal spinal N13 in 2. Moreover, tibial nerve SEPs revealed abnormalities of the subcortical P30 response in all 4 patients in whom scalp-to-ear recording was employed. These findings strongly suggest that in the early stages of disease neurological dysfunction is localized in the spinal cord, where it is difficult to assess using MRI. However, SEPs and MEPs, which show a typical pattern of abnormality in these patients, could be useful in disclosing signs of long tract involvement and in monitoring treatment. © 1997 John Wiley & Sons, Inc. Muscle Nerve 20: 1249–1257, 1997     

Clinical characteristics of migraine concordant monozygotic twin pairs

OBJECTIVES: The aim of the study was to search for clinical differences between migraine with and without aura. MATERIALS AND METHODS: From a population-based Finnish Twin Cohort we studied 51 migraine concordant monozygotic twin pairs. RESULTS: There were 20 pairs concordant for migraine with aura, 6 pairs concordant for migraine without aura and 12 "mixed" pairs. In the remaining 13 pairs the aura of at least 1 twin could not be classified. All 20 migraine with aura pairs were concordant for visual aura and 19 for moderate or severe headache while all 6 pairs with migraine without aura were concordant for headache duration of 4 to 24 h, moderate or severe headache and nausea. The 12 "mixed" pairs had more often unilateral and pulsating headache compared to both the migraine with or without aura pairs. Overall individual migraine with aura twins had more photophobia (P = 0.032) and the migraine without aura twins more nausea (P = 0.025). CONCLUSIONS: The difference between migraine with and without aura is not explained entirely by genetical factors: 12 genetically identical twin pairs were discordant for the aura. The headache phase in migraine with and without aura is very similar, but not identical. Probably there are several and different liability loci for the migraine aura and the migraine headache. The distribution of these several loci along with acquired factors will decide whether the phenotype is migraine with or without aura.     

Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy is an inherited disease caused by abnormal accumulation of very long chain fatty acids. The diagnosis of X-linked adrenoleukodystrophy can be confirmed with the mutation of ABCD1 gene. The main symptom of the X-linked adrenoleukodystrophy is spastic paraparesis, and autonomic dysfunction is rare in X-linked adrenoleukodystrophy. Here, we presented an X-ALD case of a 46-year-old Asian male with severe autonomic dysfunction. Impairment of the autonomic nervous system may closely relate to mitochondrial defect.     

肾上腺脑白质营养不良临床分析(附6例报道)

目的分析肾上腺脑白质营养不良(adrenoleukodystrophy,ALD)的临床和影像学特征。方法对6例ALD患者的临床资料进行回顾性分析。结果 6例患者均为男性儿童,年龄为5¹2岁,初始症状表现为注意力不集中、情绪不稳定、多动、学习成绩差等,逐渐进展加重,出现肢体瘫痪、共济失调、言语障碍、视听力下降、癫痫发作、意识障碍等。MRI均可见双侧脑室后角周围、顶、枕叶白质区呈对称性蝶翼状长T1及T2信号;可累及胼胝体压部、脑桥及双侧小脑中脚。3例血浆极长链脂肪酸水平升高。脑脊液和脑电图改变无特异性。目前尚无特效治疗方法。结论 ALD以儿童脑型常见,依据临床症状和典型的MRI表现可以进行临床诊断。     

X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil

X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. Objective: To describe the clinical course of affected male patients from South Brazil between 1993 and 2007. Methods: Affected male patients and their maternal lineages were studied from a clinical, neurological and biochemical standpoint. Results: Eighty-three male patients from 30 families were biochemically evaluated: 51 were affected. 27/51 (54%) presented the cerebral form; 11/51 had AMN (22%); 5 had Addison-only (10%), and 8 (16%) were asymptomatic. Between 2002 and 2006, the minimal incidence was 1:35,000 males in our State (South Brazil). Forty-three affected individuals were followed for 5.4 ± 3.7 years. Of 10 boys detected at early stages, three developed CALD. These three boys and another five CALD at baseline were referred to hematopoietic stem cell transplantation. Seven transplants were carried out, 5 with good clinical evolution after 2.2 years post-transplant. The non-transplanted case was later defined as a stable cerebral form. Discussion: Among the present families, the observed cases were comparable to the 50% expected by Mendelian segregation. Based on the natural history, the number of cases that developed CALD was similar to the expected. Transplants were successful in 70% of cases. The occurrence of a stable cerebral form pointed to an urgent need for better markers of active cerebral disease.