Weber-Christian disease presenting with proptosis: a case report

Weber-Christian disease (WCD) is a rare inflammatory disease of adipose tissue, which is characterized by painful cutaneous nodules and constitutional symptoms. Although any area of the body containing fat can be affected by WCD, the involvement of retrobulbar fat is uncommon and proptosis is a rare presenting manifestation. We report a case who presented with proptosis of the right eye which is accompanied by painful subcutaneous nodules, high fever and myalgia. Biopsies of retrobulbar tissue and suprapubic nodule showed lobular panniculitis with mixed cellular infiltration, mainly composed of histiocytes and lymphocytes. He responded well to high-dose glucocorticoid.     

Lipomembranous panniculitis: report of a case

Lipomembranous panniculitis is a peculiar type of fat necrosis and has been reported with several clinical conditions, commonly with peripheral vascular diseases. We are reporting a case of a 68-year-old woman with known liver cirrhosis and diabetes who presented with painful erythematous swelling of the right leg. Histological examination revealed microcystic changes within the subcutaneous fat. The microcysts were lined by acellular, eosinophilic membrane forming pseudopapillae and stained with periodic acid-Schiff stain. This histological feature is diagnostic of lipomembranous panniculitis. The pathologists should be aware of this entity because it aids the clinicians in investigating for associated clinical disorders.     

Fatal pancreatic panniculitis associated with acute pancreatitis: a case report

Pancreatic panniculitis is a rare disease in which necrosis of fat in the panniculus and other distant foci occurs in the setting of pancreatic diseases; these diseases include acute and chronic pancreatitis, pancreatic carcinoma, pseudocyst, and other pancreatic diseases. This malady is manifested as tender erythematous nodules on the legs, buttock, or trunk. Histopathologically, it shows the pathognomonic findings of focal subcutaneous fat necrosis and ghost-like anucleated cells with a thick shadowy wall. We herein report a case of fatal pancreatic panniculitis that was associated with acute pancreatitis in a 50-yr-old man. He presented with a 3-week history of multiple tender skin nodules, abdominal pain and distension. Laboratory and radiologic findings revealed acute pancreatitis, and skin biopsy showed pancreatic panniculitis. Despite intensive medical care, he died of multi-organ failure 3 weeks after presentation.     

Erdheim-Chester disease: a case report.

A 42-year-old man with Erdheim-Chester disease (EC) is presented. This is the first case of this disease reported in Korea. The patient complained of knee pain and plain roentgenogram of the bilateral legs revealed diffusely increased density, coarsened trabecular pattern, and cortical thickening in the diaphysis, and metaphysis as well as epiphysis. Magnetic resonance imaging revealed that the lesions showed low signal intensity on T1-weighted images and heterogeneously low and high signal intensity on T2-weighted images. Histological examination of the biopsy specimen showed a xanthogranulomatous lesion consisting aggregations of foamy histiocytes and Touton-type giant cells. Immunohistochemical staining showed positive reaction to anti-S-100 and lysozyme in the cytoplasm of the giant cells.     

Mesenteric panniculitis presenting as a huge retroperitoneal mass--a case report

A rare case of mesenteric panniculitis occurring in a young patient and presenting as a huge retroperitoneal mass which was mistaken for malignancy, has been described.     

Camurati-Engelmann's disease: a case report

Camurati-Engelmann's disease is a rare condition worldwide. No cases have been documented in Uganda. A 26 year old female presented with a history of grinding pain in the limbs for over 20 years. Strong painkillers would temporally relieve the pain. She had an asthenic stature with generalised reduction in muscle bulk. Plain x-rays revealed the characteristic symmetrical thickening and sclerosis of the diaphyses of the appendicular skeleton and skull base, which is pathognomonic of Camurati-Engelmann's disease. Involvement of the metaphyses of these long bones as well as the metacarpal bones makes this an unusual case.     

弥漫型胃黏膜皱襞肥大症一例

患者男,55岁。2个月前无明显诱因出现双下肢水肿同时稍感上腹部不适,进食后尤其明显,食欲减退,于200年6月19日入院。入院前于外院CT检查示:胃壁平滑肌瘤可能性大,胃腔变小,胃镜检查未见明显异常。上消化道造影提示:胃癌、右侧胸膜肥厚。外科查体:腹平坦,全腹无压痛、反跳痛及肌紧张,左上腹可触及一8cm×9cm×15cm大小的肿块,无触痛,双下肢出现凹陷性水肿。实验室检查:白蛋白25g/L。病理检查:全胃组织,大弯长39cm,小弯长21cm,胃体直径12cm,胃角直径6.5cm,网膜面积为23cm×16cm,沿胃大弯剪开胃组织,可见弥漫性黏膜皱襞粗大,弥漫至胃底、大小…     

Glycogen storage disease type IV: a case report.

Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old female patient with GSD-IV who exhibited an abdominal distension and failure to thrive for 9 months. The patient showed hepatosplenomegaly with massive ascites. The laboratory findings showed abnormal liver functions including prolongation of prothrombin time and partial thromboplastin time. The light microscopic and electron microscopic findings of the liver biopsy specimen were consistent with GSD-IV. Measurement of glycogen quantity in the red blood cells showed increased storage of glycogen in the patient and interestingly, in her mother. The GBE activity of the patient''s red blood cells was undetectable. The patient''s ascites, general condition, and laboratory findings have been improved with supportive treatment with diuretics and a low dose of prednisolone.     

A case of mesenteric panniculitis in a patient with Tangier disease

Mesenteric panniculitis is a rare disease caused by idiopathic inflammation of adipose tissue, most commonly affecting the mesentery of the small bowel. We present a unique case of mesenteric panniculitis in a patient with Tangier disease; a rare genetic disorder caused by mutations in the ABCA1 gene, leading to deficiency of high-density lipoprotein in the blood and accumulation of cholesterol esters within various tissues. The accumulation of cholesterol esters in body tissues in patients with Tangier disease may contribute to the pathogenesis of mesenteric panniculitis; although there is limited evidence to support this hypothesis due to the rarity of concurrent disease.     

Fabry病一例

患者女,41岁。因发现蛋白尿1个月于2006年3月15日入院。患者1个月前因腰痛在当地医院就诊,尿常规检查提示蛋白＋＋,当时未予特殊处理,后多次查尿常规检查均提示有蛋白尿,为进一步诊治入本院肾内科。调查家族史,其父死于心脏病,其母、兄弟姐妹及儿女未发现类似病患。体检：各器官未见异常,全身皮肤末见皮疹。[第一段]     

Von Hippel-Lindau disease: a case report

Von Hippel Lindau (VHL) disease is a rare autosomal dominant condition manifested by central nervous system hemangioblastoma, retinal angiomas, cysts of pancreas, kidney and epididymis, pheochromocytomas and renal cell carcinoma. We present such a case in a 45 years old male patient.     

A case of Weber-Christian disease with later development of rheumatoid arthritis

Weber-Christian disease (WCD) is a syndrome characterized by recurrent subcutaneous nodules, fever, occasional lipoatrophy, fatigue, arthralgia, and myalgia. We report a case of WCD associated with rheumatoid arthritis. A 65-year-old woman consulted our outpatient clinic because of bilateral hand swelling. The patient had presented with fever and subcutaneous nodules in her trunk and upper and lower extremities in 1983. At that time, the dermatology department diagnosed this patient as having WCD after biopsy of the nodules demonstrated lobular panniculitis. She has been treated with corticosteroid (5-15 mg/day) since then. The patient continued to have recurrent episodes of transient inflammatory arthritis in the small joints of the fingers and fever, and was initially assessed at our institution in October 2007. Finally, in November 2007, she was diagnosed as having both WCD and rheumatoid arthritis (RA) and treated with corticosteroid (5 mg/day) and methotrexate (MTX) (7.5 mg/week). Thereafter, her clinical symptoms gradually improved. This is the second case of WCD showing the subsequent development of RA, successfully treated with MTX, in the English literature. This case may provide clinical insight into WCD and RA.     

Glutathione and lymphocyte activation: a function of ageing and auto-immune disease

A decline in tissue and serum of glutathione (GSH) content and GSH-metabolizing enzymes with age has been implicated in the increasing susceptibility to carcinogens, disease and drugs which occurs with advanced age. Immunological senescence has been directly associated with increased incidence of cancer and infection with age. The auto-immune diseases of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) demonstrate depressed T-cell function together with B-cell hyperactivity. In addition, RA and SLE are chronic inflammatory conditions which have been associated with low serum and erythrocyte GSH concentrations when compared to normal. We hypothesized that augmentation of intracellular GSH concentrations in lymphocytes may enhance immune function in depressed immune states. Our data, using murine animal models for ageing (C57BL/6J) and the RA/SLE-like auto-immune diseases of the MRL/lpr mouse, indicate that intracellular glutathione of splenic lymphocytes does not decline with age or with a chronic inflammatory auto-immune disease. In contrast, immune responsiveness in splenic lymphocytes does decline. We can, however, augment both intracellular GSH concentrations and the immune response of splenic lymphocytes from animals of all ages as well as in those animals with the SLE-like auto-immune disease.     

Niemann Pick disease A: a case report

The Niemann Pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities of blood cells and bone marrow. The diagnosis requires enzymatic dosages, which can be long and difficult. In this context, the detection of inconstant cytologic anomalies in blood and bone marrow smears, allowing a rapid screening, is an important step in the diagnostic approach. We report the case of a 6?year-old child who presents with abdominal distension; medullogram was performed and revealed the presence of vacuolated cells overload. Correlated with clinical and biochemical data, medullogam results confirmed the diagnosis of type A?Niemann Pick disease.     

肾小球囊肿病一例

患者女,46岁.因体检发现左肾囊性占位性病变2年于2010年1月入院.患者2008年体检发现左肾囊肿3 cm×3 cm,现囊肿增大,无尿频、尿急、腰腹痛、血尿、发热等病史.超声示左肾中极囊性占位约4 cm×5 cm.