Multicentric Castleman''s disease with mediastinal involvement in a patient with HIV infection]

Congenital nephrotic syndrome of Finnish type is a rare disease in Taiwan characterized by intrauterine onset of massive urinary loss of protein. We describe a typical baby of congenital nephrotic syndrome with generalized edema occurring at 3 months of age. Renal biopsy at 4 months of age showed a tubular microcystic change in histology. He had a partial response to corticosteroid. We tried persantin, indomethacin, and captopril since 10 months of age without significant improvement. The baby suffered from recurrent infections and respiratory difficulties due to having upper airway edema since 3 months of age. The baby passed away at 1 year and 2 months of age with severe psychomotor retardation. The first try of the combination of persantin, indomethacin, and captopril for congenital nephrotic syndrome is described.     

Retroperitoneal round-cell liposarcoma associated with paraneoplastic pemphigus presenting as lichen planus pemphigoides-like eruption

OBJECTIVE: To investigate the relationship between angiotensin-converting enzyme (ACE) gene insertion/deletion polymorphism and the clinico-pathological manifestations in patients with immunoglobulin nephropathy (IgAN). METHODS: A flanking primer pair and an insertion-specific primer pair were used to perform two polymerase chain reactions so as to analyse the insertion/deletion polymorphism of ACE gene. RESULTS: There was a significantly higher genotype frequency for DD genotype in IgAN patients. The frequencies for DD genotype were also higher in those patients with hypertension and/or heavy proteinuria and/or severe glomerular sclerosis (P < 0.05). CONCLUSIONS: We observed a significant association of the deletion polymorphism of ACE gene with renal insufficiency, hypertension and severe glomerular lesions at biopsy. The deletion allele may play a role, at least to some extent, in the deterioration and progression in IgA nephropathy.     

Isolated pulmonary arteries involvement in a patient with Takayasu's arteritis

Pulmonary arteries involvement is well described in Takayasu's arteritis (TA), a condition which is mainly associated with involvement of the systemic arteries. We report a case of TA with documented isolated pulmonary arteries involvement. Symptoms were quite similar to those encountered in chronic thromboembolic disease. A pulmonary angiogram showed bilateral stenosis and occlusion of pulmonary arteries. Diagnosis of TA was suspected, and as such a complete aortogram was made but proved to be normal. Massive haemoptysis suddenly occurred, which resulted in death. Autopsy disclosed characteristic pathological lesions of TA in pulmonary arteries and confirmed the lack of involvement of the aorta and its branches. The frequency of such a clinical form could be underestimated, given the difficulties of diagnosis and features similar to those of chronic thromboembolic disease.     

Chronic thromboembolic pulmonary hypertension associated with initial pulmonary involvement in Takayasu arteritis

We report a case of a 65-year-old man with intradipolic epidermoid cyst of the frontal bone. The patient presented with headache and swelling of the forehead. Skull x-ray showed massive destruction of the frontal bone. Magnetic resonance imaging (MRI) revealed an epidural mass without any encroachment of the dura mater. The cystic tumor was removed followed by cranipolasty with methylmethacrylate. Four years later, the tumor recurred in the same region. At the second surgery the bony defect was again replaced with methylemthacrylate plate. Four years after the second operation, the tumor reemerged with some subcutaneous fluid retention. At the third surgery, the remaining tumor capsule was removed as much as possible except for that part which adhered to the superior sagittal sinus. The authors discuss the relationship of tumor recurrence with utilization of methylmethacrylate for cranioplasty in this type of tumor.     

Idiopathic pulmonary fibrosis associated with rectal carcinoma--a paraneoplastic syndrome or coincidence?

The association between lung cancer and idiopathic pulmonary fibrosis (IPF) is well documented, complicating > or = 10% of cases involving IPF. This association is considered to be a result of neoplastic degeneration, rather than a paraneoplastic phenomenon. However, rectal carcinoma has only rarely been linked to paraneoplastic manifestations. We describe a young patient with IPF that preceded the appearance of rectal carcinoma by 6 mo. The possible association between the two disorders is discussed.     

Rapid development of severe osteoarthritis associated with osteoid osteoma in a young girl

A 52-year-old woman with a seven-year history of rheumatoid arthritis (RA) was transferred to our department with chronic renal failure to undergo hemodialysis. She had been treated with prednisolone for a long time, and had renal amyloidosis secondary to RA. During her hospitalization, a left pleural effusion developed. Pleural fluid cultured positive for Cryptococcus neoformans (CN), and the CN antigen was detected in both pleural fluid and serum. Chest computerized tomography revealed an infiltrate shadow in the left lower lung field suggestive of CN infection. This was successfully treated with anti-fungal agents. Pleural effusion is an unusual manifestation of pulmonary cryptococcosis. We should consider a diagnosis of CN infection when pleural effusion is observed in compromised patients such as those receiving a long-term corticosteroid treatment.     

Secondary pulmonary hypertension in a patient with severe chronic restrictive pulmonary insufficiency--normalized during treatment with non-invasive intranasal ventilation and oxygen

The present case report describes a young woman with severe restrictive lung failure, who developed pulmonary hypertension. She was treated successfully with nocturnal noninvasive nasal ventilation and oxygen, which removed symptoms and signs of cardiac incompensation. The improvement has persisted for five years.     

Multicentric Castleman''s disease associated with renal amyloidosis and pure red cell aplasia

Researchers have recently proven the ability of computer simulation to predict the behaviour of cerebral aneurysms. Accurately simulating the flow of blood within the aneurysm helps researchers to predict the growth pattern of the aneurysm and the danger of rupturing. As this tool is further developed into a practical diagnostic tool, it is expected to dramatically improve the ability of surgeons to weigh the results of alternate treatment methods. The simulation method used, computational fluid dynamics (CFD), provides much more information than current diagnostic tools, including particularly shear stress levels at various stages of the cardiac cycle, which help to pinpoint areas of aneurysm formation and growth.     

Anesthetic management of a patient with protein C deficiency associated with pulmonary thromboembolism

A patient with protein C deficiency associated with massive pulmonary embolism underwent open heart tromboembolectomy. The operation was successfully performed under cardiopulmonary bypass using a usual dose of heparin 3 mg.kg-1. The effect of heparin was successfully reversed by the administration of protamine sulfate 6 mg.kg-1. Perioperative administration of fresh frozen plasma or protein C concentrates might be necessary to manage hypercoagulability in a patient with protein C deficiency.     

A patient with acquired haemophilia A and pemphigus

Haemophilia A is usually a genetic deficiency of coagulation factor VIII (F VIII). The development of antibodies against F VIII is a well known and frequent complication in the treatment of haemophilia A. Rarely, a F VIII inhibitor arises spontaneously, causing a condition which is known as acquired haemophilia A. We describe a patient with acquired haemophilia A and pemphigus, who presented with spontaneous haematomas of the extremities. Laboratory tests showed an activated partial thromboplastin time (aPTT) of 71 s (normal: 26-36 s), a F VIII concentration of 9% (normal: 60-140%), and a F VIII inhibitor-activity of 7.5 Bethesda Units/ml (B.U./ml, normal: 0). The haematomas disappeared within a few days and the laboratory tests normalized within 6 weeks, after administration of a booster of oral corticosteroids. One and a half years after the corticosteroids were stopped, both the clinical and the laboratory course of the patient has been uneventful. As far as we know, the combination of acquired haemophilia A and pemphigus has been reported in the literature only three times before. The diagnosis acquired haemophilia A should be considered in a patient presenting with a newly arisen haemorrhagic diathesis.     

Tongue involvement in a patient with granulomatous myositis

A 64-year-old woman had difficulty swallowing and talking, weakness of the tongue, and progressive muscle weakness that was proven to be caused by a granulomatous myopathy. This case resembled a motor neuron disease, indicating that granulomatous myopathy should be considered in patients with similar presentations, since it is a treatable condition with a more benign prognosis.     

Elevated serum lipoprotein (a) levels associated with ulcerative colitis in a young Japanese patient

Thromboembolism has been shown to play a role in the pathogenesis of inflammatory bowel disease (IBD). A possibility exists that lipoprotein (a) [Lp(a)], a newly-discovered prothrombotic factor, also participates in the development of at least some cases of IBD. Marked elevation of serum Lp(a) levels was observed in a young patient with ulcerative colitis. A biopsy specimen of the rectal mucosa showed findings compatible with ulcerative colitis, as well as small vessel thrombus occurring within the muscularis mucosa in the rectum. Serum Lp(a) levels were markedly elevated on admission (71 mg/dl), with a gradual decrease to 46 mg/dl on discharge. Moreover, serum Lp(a) levels decreased in parallel with clinical improvement. In the quiescent clinical stage, no small vessel thrombus was observed in the mucosa on follow-up colonoscopy. The association between IBD and hyper-Lp(a)-emia would be presumable but it has been, to our knowledge, previously unreported. The case reported here would be the first young patient, suggesting the presence of hyper-Lp(a)-emia and small vessel thrombus formation occurring in association with the development of ulcerative colitis.     

An adult case of Williams-Campbell syndrome associated with pulmonary hypertension and a severe decrease in ventilatory response

Williams-Campbell syndrome is a unique form of bronchiectasis caused by a congenital defect in bronchial cartilage, and is rare in Japan. A 34-year-old man was admitted to our hospital with a fever, and a productive cough. Arterial blood gas analysis revealed severe type II-respiratory failure. Many thin-walled cystic shadows (5-60 mm in diameter) were present in the entire lung field. Pulmonary function tests revealed obstructive impairment. Bronchograms demonstrated cystic bronchiectasis, with ballooning on inspiration and collapse on expiration, characteristic of Williams-Campbell syndrome. Despite severe hypoxia, he did not suffer from dyspnea. We examined ventilatory response to hypercapnea (HCVR) and hypoxia (HVR), and both HCVR and HVR were abnormal. In addition, the mean pulmonary artery pressure was 26 mmHg, indicating pulmonary hypertension.