Nasu-Hakola's disease (membranous lipodystrophy)

Summary An autopsy case of Nasu-Hakola's disease (membranous lipodystrophy) was reported. A 29-yearold Japanese woman whose younger sister had been affected with typical Nasu-Hakola's disease with skeletal and neuropsychiatric sysdromes and membranocystic lesions in the bones developed forgetfulness and lack of initiative. The clinical features were characterized by diminished drive, apathy, euphoria, disturbance of attention, amnestic syndrome, and gait disturbance. The elinical course of her illness was 8 years. The neuropathologic examination revealed marked symmetrical gliosis of the cerebral white matter (sclerosing leukodystrophy) predominantly in the frontal and temporal lobes with slight or moderate demyelination (dissociation glio-myelinique) and widespread axonal changes such as fragmentation and spheroid in the white matter of the cerebral hemisphere, cerebellum, basal ganglia, and brain stem. The ultrastructure of spheroids showed neurofilamentous accumulation. We discussed the importance of axonal changes with regard to the pathogenesis and etiogenesis of the disease.     

Clinical characteristics of dialysis related sclerosing encapsulating peritonitis: multi-center experience in Korea

Sclerosing encapsulating peritonitis (SEP) is a rare but serious complication in patients with continuous ambulatory peritoneal dialysis (CAPD), and is characterized by a progressive, intra-abdominal, inflammatory process resulting in the formation of sheets of new fibrous tissue, which cover, bind, and constrict the viscera, thereby compromising the motility of the bowel. No satisfactory estimate is available on the comparative incidence of dialysis related SEP and the pathogenesis of SEP still remains uncertain. Although recent therapeutic approaches have reported varying degrees of success, an efficient measure to detect, at an early stage, patients at risk for SEP would be beneficial and a standardized treatment regimen to prevent the illness is urgently needed. This study aimed to evaluate the clinical features of SEP and to identify the possible risk factors for the development of SEP in CAPD patients. We retrospectively reviewed by questionnaire SEP cases among CAPD patients from 7 university hospital dialysis centers in Korea, including Yonsei University, Ajou University, Catholic University, Inha University, Kyungpook University, Seoul National University and Soonchunhyang University, from January 1981 to December 2002. Out of a total of 4,290 CAPD patients in these centers, 34 cases developed SEP with an overall prevalence of 0.79%. The male to female ratio was 17:17. The median age of these patients was 44.5 years (range 19-66). The median duration of CAPD before SEP was 64 months (9-144) and 68% of patients (23/34) had been on CAPD for more than 4 years. Peritonitis (including two fungal cases) was the main cause of catheter removal in SEP (27 cases, 79%). Seventy-five percent of the cases (15/20) were administered beta-blocker for a mean duration of 85 months (26-130). Among 10 cases with available peritoneal equilibration test (PET) data, 8 showed high transporter characteristics, and the remaining 2 were high average. Eighteen cases were diagnosed by clinical and radiologic methods, and 16 were surgically diagnosed. Eleven cases were surgically treated and the others were treated conservatively with intermittent total parenteral nutrition (TPN). The overall mortality rate was 24%. SEP is a serious, life threatening complication of CAPD. Most cases had a PD duration of more than 4 years, a history of severe peritonitis, and high transporter characteristics in PET. Therefore, to reduce the incidence of SEP, careful monitoring and treatment, including early catheter removal in patients with severe peritonitis, should be considered for long-term CAPD patients with the above characteristics.     

Sclerosing cholecystitis associated with autoimmune pancreatitis

AIM: To evaluate the histopathological and radiological findings of the gallbladder in patients with autoimmune pancreatitis (AIP). METHODS: The radiological findings of the gallbladder of 19 AIP patients were retrospectively reviewed. Resected gallbladders of 8 AIP patients were examined histologically and were immunostained with anti- IgG4 antibody. Controls consisted of gallbladders resected for symptomatic gallstones (n = 10) and those removed during pancreatoduodenectomy for pancreatic carcinoma (n = 10), as well as extrahepatic bile ducts and pancreases removed by pancreatoduodenectomy for pancreatic carcinoma (n = 10). RESULTS: Thickening of the gallbladder wall was detected by ultrasound and/or computed tomography in 10 patients with AIP (3 severe and 7 moderate); in these patients severe stenosis of the extrahepatic bile duct was also noted. Histologically, thickening of the gallbladder was detected in 6 of 8 (75%) patients with AIP; 4 cases had transmural lymphoplasmacytic infiltration with fibrosis, and 2 cases had mucosal-based lymphoplasmacytic infiltration. Considerable transmural thickening of the extrahepatic bile duct wall with dense fibrosis and diffuse lymphoplasmacytic infiltration was detected in 7 patients. Immunohistochemically, severe or moderate infiltration of IgG4-positive plasma cells was detected in the gallbladder, bile duct, and pancreas of all 8 patients, but was not detected in controls. CONCLUSION: Gallbladder wall thickening with fibrosis and abundant infiltration of IgG4-positive plasma cells is frequently detected in patients with AIR We propose the use of a new term, sclerosing cholecystitis, for these cases that are induced by the same mechanism as sclerosing pancreatitis or sclerosing cholangitis in AIR     

Perinatal events and the risk of developing primary sclerosing cholangitis

INTRODUCTION Primary sclerosing cholangitis (PSC) is a complex disease likely to involve multiple susceptibility genes, environmental and immunological risk factors. PSC can present at any age and is characterised by a long subclinical asymptomatic period…     

自身免疫性肝病的组织病理学特点及其临床意义

自身免疫性肝病（AILD）可分为自身免疫性肝炎（AIH）、原发性胆汁性肝硬化（PBC）和原发性硬化性胆管炎（PSC）。肝活检对于AILD的诊断以及严重程度和预后判断至关重要。AIH-般以界面性肝炎（碎屑样坏死）、淋巴．浆细胞浸润和肝细胞玫瑰样花结为组织病理学特点．而PBC和PSC分别表现为胆管肉芽肿样破坏和胆管周围同心圆样纤维沉积（“洋葱皮样”）。除组织病理学证据外,AILD的诊断还需结合特征性临床、生化改变以及血清自身抗体和球蛋白水平综合判断。     

加强对国人自身免疫性肝病的临床研究

自身免疫性肝病由自身免疫性肝炎（AIH）、原发性胆汁性肝硬化（PBC）、原发性硬化性胆管炎（PSC）及其重叠综合征组成。我们不仅需加强国人自身免疫性肝病自然史、临床特点和发病机制的研究,还需开展多中心、前瞻性随机对照临床试验以评估新的免疫抑制治疗的疗效和安全性。     

Sjogren's syndrome in a patient with ulcerative colitis and primary sclerosing cholangitis: Case report and review of the literature

Inflammatory bowel disease has been reported to co-exist with other autoimmune diseases. Sjogren's syndrome is an autoimmune disorder characterized by xerostomy and/or xerophthalmy. Sjogren's syndrome occurring in IBD has been very rarely reported.A 45-year old woman diagnosed ten years ago with ulcerative pancolitis and primary sclerosing cholangitis was referred to our outpatient IBD clinic because of xerostomy but not for xerophthalmy for the previous three months. The patient had been under azathioprine maintenance treatment (2 mg/kg) and achieved long-term disease remission for the past 4 years. Patient clinical examination and laboratory tests were unremarkable. Salivary gland biopsy and complete ophthalmologic investigation were performed and the patient was diagnosed with Sjogren's syndrome.Understanding sicca manifestations in IBD is difficult since the pathogenesis of this intestinal disorder is not yet clear. Of these complex autoimmune phenomena which occur along with IBD it is quite difficult to categorize concomitant Sjogren's syndrome as primary or secondary and literature is conflicting. The possibility of Sjogren's syndrome should always be considered and properly investigated in patients diagnosed with inflammatory bowel disease who develop a constellation of constitutional sicca symptoms.     

12例肺硬化性血管瘤的临床病理特点

目的探讨肺硬化性血管瘤（ sclerosing hemangioma of the lung, SHL）的临床病理特点及组织来源。方法对12例SHL进行临床病理及免疫组化研究。结果本组男2例,女10例,年龄35～65岁,平均45岁。HE染色示：SHL由实性片块区、乳头状区、血管瘤样区及硬化区4种组织结构组成。被覆乳头表面、实性区裂隙及血管样腔面的为立方细胞;实性区及乳头轴心为形态一致的圆形、多角形细胞。免疫组化：2种细胞均表达EMA和rrrF一1,立方细胞表达CK;而多角形细胞弥漫表达Vimentin及ER、PR;瘤组织内散在有Syn、CgX、NSE阳性细胞区。结论SHL多见于中青年女性,发病率低,易误诊为肺癌,熟悉本病的组织学特点对避免误诊有十分重要的意义。ER、PR的高表达可能与女性的高发病率密切相关。     

30例肺硬化性血管瘤CT表现与病理对照分析

目的探讨肺硬化性血管瘤（PSH）的CT表现及与临床病理之间的关系,旨在提高PSH的影像诊断水平。方法回顾性分析30例经手术证实的PSH,参考相关资料,将CT表现与临床症状、病理结果对照。结果PSH40岁以上占73％,女性占80％：病灶多为单发圆形病灶;平扫密度均匀22例,不均匀8例,增强扫描明显均匀强化18例、不均匀强化12例：增强幅度8～67HU,增强幅度与病变内血管瘤区和乳头区成分有关;钙化6例：瘤周磨玻璃密度8例,空气新月征6例,贴边血管征2例。结论PSH好发于中年女性,CT表现为肺内孤立性病变,增强扫描明显强化。空气新月征及瘤周磨玻璃密度有相对特征性,有助于术前诊断。