Pancreatic encephalopathy. A case report and review of the literature.

Pancreatic encephalopathy is an uncommon condition found in patients with acute pancreatitis. The present report shows the interest of MRI in the diagnosis of this disorder. Patchy white matter signal abnormalities, resembling plaques seen in multiple sclerosis, may reflect the lesions that are found in the cerebral white matter of post-mortem confirmed cases.     

不典型性中枢神经系统Whipple病:一例报告并文献复习

目的结合文献探讨中枢神经系统Whipple病的诊断与治疗特点,以提高对该病的认识。方法回顾分析1例以头痛、左侧肢休无力,伴记忆力减退为首发症状的不典型性中枢神经系统Whipple病的临床诊断与治疗经过,并进行文献复习。结果女性患者,35岁。首发症状表现为头痛、肢体无力及记忆力减退,但不伴发热、癫癎发作。病程进展过程中相继出现阵发性四肢抽动、右侧下肢无力、小便失禁、多食、体质量增加、停经、体温波动,大剂量糖皮质激素及青露素、复方磺胺甲噁唑等抗炎药物治疗无效,随着颅内压逐渐升高,脑疝形成。腰椎穿刺脑脊液检测仅蛋广白定量显著升高。脑电图提示右侧前额颞区慢波。MRI呈以右侧大脑半球、额顶颢叶、半卵圆中心及基底节为主的大片长T₁、长T₂信号,并不均匀疏松团状强化,病灶周围水肿,占位效应明显,并累及左侧大脑半球。病理学检查呈现大片状坏死,脑组织及血管周围大量淋巴细胞和浆细胞浸润,伴大量格子细胞渗出,胞质丰富,内含大量六胺银和PAS染色阳性的细小颗粒状物质。排除中枢神经系统肿瘤、脱髓鞘病变及炎性假瘤等疾病。结论中枢神经系统Whipple病极为罕见,临床及影像学表现复杂多样,病理学检查仅能提示特殊感染,治疗困难,误诊率及病死率高。早期进行组织活检,结合临床表现及病理学特征可以明确诊断,经规范的抗生素治疗,患者可获得良好预后。     

线粒体脑病:一例报告并文献复习

目的探讨线粒体脑病临床、影像学及病理学特点。方法与结果女性患者,52岁。因发作性肢体抽搐、麻木共3次入院,临床表现为局灶性癫发作、智能障碍,双侧锥体束征阳性。影像学检查均考虑为缺血性卒中及脑萎缩,脑电图显示中至重度异常波形。脑脊液红细胞计数1.04×106/L,中性粒细胞比例、蛋白定量和免疫球蛋白IgG水平升高,氯化物水平降低;血清超敏C反应蛋白和红细胞沉降率升高。组织病理学显示皮质内部分神经元肿胀,星形胶质细胞反应性增生及毛细血管数目增加;肿胀及形态正常的神经元胞质内均有Mito染色阳性颗粒物质存在,反应性星形胶质细胞胶质纤维酸性蛋白表达阳性。电子显微镜观察,神经元胞质内大量异常线粒体堆积,形态、大小不一,线粒体嵴变平或延长并旋绕成同心圆状,线粒体内出现嗜锇小体和类结晶样包涵体。结论线粒体脑病临床少见,易误诊为缺血性卒中,对线粒体病的诊断需进行临床表现、血清酶学、生化指标、肌肉组织活检及分子生物学等多项检查。     

Hashimoto's encephalopathy. Case report and literature review

We present a 43-year-old man with recurrent episodes of Hashimoto's encephalopathy who was diagnosed with autoimmune thyroiditis in childhood. Encephalopathy started with subacute dementia followed by extrapyramidal and psychiatric symptoms of insidious onset. He had also status epilepticus which occurred within the first year of the disease. The patient was in euthyreosis, but increased levels of antithyroid antibodies were found. MRI of the brain was normal. Electroencephalography was initially normal and later showed diffuse slowing with generalized theta/delta activity. The cerebrospinal fluid examination revealed a high level of protein which decreased when remission of the disease was achieved. After other etiology was excluded Hashimoto's encephalopathy was diagnosed. Almost complete clinical recovery after steroid administration was observed. Attempts of prednisone withdrawal led to recurrence of neurological and psychiatric symptoms. The diagnosis of Hashimoto's encephalopathy should be considered in each case with subacute encephalopathy associated with high levels of antithyroid antibodies (despite normal thyroid function) and in the absence of other brain diseases.     

McArdle''s disease with late-onset symptoms: case report and review of the literature.

McArdle's disease with late-onset symptoms is an unusual cause for muscle disease in older patients. The case of a patient with McArdle's disease whose symptoms began at 60 years of age is presented, and seven previous cases of late-onset McArdle's disease reported since 1963 are discussed. In five of the eight patients, the clinical presentation was similar to the early onset disorder with exercise intolerance, cramps, and myoglobinuria. In contrast, the remaining three patients presented with fixed proximal limb and bulbar weakness. Electromyography confirmed a myopathic process in four of four patients. Results of the forearm ischaemic exercise test were positive in seven of seven patients with complete myophosphorylase deficiency; results of muscle biopsies were diagnostic in all patients. McArdle's disease with late-onset symptoms is rare and clinically more variable than the early onset disorder.     

平山病1例报道并文献复习

平山病(Hirayama disease,HD)又称青少年上肢远端肌萎缩(Juvenile muscular atrophy of the distal upper limb),是日本学者平山惠造等于1959年首先报道的一种良性自限性下运动神经元疾病[1],也是神经科的一种少见疾病,绝大部分在亚洲地区报道,以日本为多[2].现将我院近期收治的 1例平山病报道如下,并对相关文献进行复习.     

Influenza B acute necrotizing encephalopathy: a case report and literature review

The case of a 9-year-old girl with acute encephalopathy with evidence of influenza B virus infection and bilateral basal ganglia lesions is reported. The literature on acute necrotizing encephalopathy is reviewed, and other causes of bilateral basal ganglia lesions are discussed.     

可逆性后部白质脑病综合征1例报告并文献复习

目的：探讨可逆性后部白质脑病的常见病因、发病机制、临床表现、诊断及治疗措施。方法对1例产褥期可逆性后部白质脑病综合征患者的诊疗经过进行分析。结果患者有中枢神经系统症状、体征,结合相关检查结果,采用脱水、营养神经、对症支持治疗,预后良好。结论可逆性后部白质脑病综合征是一种由多种原因引起的以神经系统异常为主要表现的临床综合征。常见的病因有恶性高血压、妊娠子痫、各类严重肾脏疾病、免疫抑制剂及细胞毒药物、自身免疫病的治疗等。急性或亚急性起病,临床表现多种多样,常见的有头痛、痫性发作、视觉障碍、意识障碍及精神异常等。临床诊断主要依据其典型的影像学改变,大多数影像学改变为可逆性,预后良好。     

Sudden bilateral blindness in Wernicke's encephalopathy: case report and review of the literature

We report on a patient suffering from bilateral sudden blindness as initial symptom of Wernicke's encephalopathy (WE). A 37-year-old male alcoholic was admitted to a psychiatric clinic because of excessive alcohol consumption (3.4‰). 24 h later he developed acute bilateral blindness with no light perception, downbeat nystagmus, bilateral ocular abduction deficits, cerebellar ataxia as well as a slight psychomotor slowing and mild disorientation. MRI including diffusion-weighted imaging and MR-angiography 3 h after symptom onset did not reveal findings suggestive for ischemic stroke. Immediate iv-application of thiamine led to a nearly complete remission of the neuroophthalmologic symptoms within 12 h. Although we critically discuss other potential etiologies, we conclude that the complex clinical picture with initial sudden blindness is an unusual presentation of WE.     

Pancreatic encephalopathy: a 7-year follow-up case report and review of the literature

Pancreatic encephalopathy is a rare complication of acute pancreatitis. Clinical features include focal neurological signs and acute onset of dementia. This picture can fluctuate over time: cyclic progression with remission and relapses has been described. We present the case of a 43-year-old man who, after an acute episode of pancreatitis, experienced five relapses, with alternating focal signs. The patient has improved, but cognitive impairment persists after a 7-year follow-up. Received: 13 December 2001 / Accepted in revised form: 11 June 2002 Correspondence to R.M. Ruggieri     

Von Hippel-Lindau病一例报告:误诊病例及文献复习

Von Hippel-Lindau（VHL）病为临床罕见的常染色体显性遗传性疾病，其致病基因定位于常染色体3p25～p26，为一组家族性、多发性、多器官受累的良恶性肿瘤症候群。其临床特征为发生于神经系统或视网膜的血管母细胞瘤、肾透明细胞癌、嗜铬细胞瘤以及肝、肾、胰腺、附睾等多发囊肿或肿瘤。[第一段]     

The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature

Alexander's disease is a leucodystrophy that usually presents in early childhood, but can infrequently arise in adults. It is characterised pathologically by megalencephaly, demyelination, and the presence of numerous Rosenthal fibres. Most cases have been shown to be due to mutations in the gene encoding glial fibrillary acidic protein. In rare instances, numerous Rosenthal fibres have been found at autopsy in patients who have suffered protracted debilitating systemic illnesses, some with associated brain stem signs, and in very rare instances in patients with no apparent neurological abnormality. The term "Rosenthal fibre encephalopathy" is used to distinguish these cases from those of Alexander's disease. We report the first case of Rosenthal fibre encephalopathy in a young man with AIDS, and review the literature.     

Perinatal lethal Gaucher disease: A case report and review of literature

Perinatal lethal Gaucher disease is a very rare variant of type 2 Gaucher disease that occurs in the neonatal period and leads to death in early infancy. The disease is characterized by hydrops fetalis or a collodion baby phenotype accompanied with progressive neurological manifestations, hepatosplenomegaly, thrombocytopenia, anemia, and failure to thrive. We report a case of perinatal lethal Gaucher disease treated with enzyme replacement therapy (ERT) who survived for 9 months and present a literature review of perinatal lethal Gaucher disease cases. The prognosis of perinatal lethal Gaucher disease is poor, and ERT is only effective in visceral manifestation. Therefore, palliative care should be recognized as a treatment option, and ERT employment needs to be discussed in this context.     

Delusion of pregnancy. A case report and review of the literature

This case report describes the longstanding course of a delusion of pregnancy in a 51-year-old schizophrenic Ghanaian woman suffering from multiple symptoms of delusions and hallucinations. In addition to these symptoms, the patient was affected by multiple coenesthesias, ego disturbances and bizarre delusions of being influenced by external forces. A multi-causal aetiology of delusional pregnancy is discussed.