Objective This study evaluated the current state of patients with Wilson disease in central Japan. Patients and Methods Between 1999 and 2007, 30 patients were diagnosed as having Wilson disease with an International Diagnostic Score of 4 or more. The phenotypes, genotypes and post-diagnostic courses of these patients were analyzed. Results Twenty-six patients had ATP7B mutations responsible for Wilson disease. Four patients had a single mutant chromosome. There were 2 major mutations of 2333 G>T and 2871 delC (40%), and 6 novel mutations (13%) in our patients. The first clinical manifestation was the hepatic form in 22, neurological form in 5, and hemolysis in 3 patients. The hepatic form was diagnosed around the age of 13 years, followed by neurological complication with a time lag of 9 years. Thus, some patients, especially patients with the neurological form, did not undergo early diagnostic tests including ATP7B analysis. During the post-diagnosis period, 3 patients were hospitalized for recurrent liver disease, and 2 patients committed suicide. One female patient died from acute hepatic failure associated with encephalopathy after fertilization therapy, while 2 male patients recovered from encephalopathy-free, prolonged hepatic failure after noncompliance with drug therapy. The King's Scores for liver transplantation were below the cut-off in both cases. Conclusion To minimize delayed diagnosis, ceruloplasmin determination and ATP7B analysis may be recommended to patients showing hepatic damage of unknown etiology. At gene diagnosis, appropriate management of patients including compliance education and emotional care to prevent suicide might be important.
Background Both silent cerebral infarction (SCI) and carotid intima-media thickness (IMT) are associated with future stroke. We evaluated whether SCI could be a predictor for incident stroke independent of carotid IMT in high-risk patients. Methods We performed a prospective cohort study among 282 outpatients who had one or more atherosclerotic risk factors but without a history of cardiovascular disease. We conducted cranial MRI and measured carotid IMT at baseline, and then evaluated the risks of incident stroke and transient ischemic attacks (TIA) using Cox proportional hazards models. Results SCI was present in 67 patients (23.7%) at baseline. During 4.1 years of follow-up, stroke and TIA occurred in 8 patients (2.8%). The incidence of stroke/TIA was 22.3 per 1,000 person-years in those with SCI compared with 2.2 per 1,000 person-years in those without SCI. Both SCI and carotid IMT at baseline were associated with incident stroke/TIA events after adjustment for age, sex, and traditional vascular risk factors. The predictive value of SCI remained significant even after adjustment for carotid IMT (HR 8.56; 1.72-42.55). Conclusion SCI, similar to carotid IMT, is an independent predictor of stroke and TIA in high-risk patients.
Objective Patients with lupus nephritis receiving intravenous cyclophosphamide (IVCY) therapy were divided into groups according to their clinical course, and the long-term prognosis was evaluated. Patients and Methods A total of 67 patients with lupus nephritis were enrolled and divided as follow into the following groups: Group A: patients with fresh nephritis, Group B: patients with relapse nephritis, Group C: patients with nephritis as a transition of the main clinical manifestation. IVCY (500 mg or 750 mg) was administered every month, and continued for two to more than six months. Results The rate of remission was 78%; group A revealed a significantly higher rate of remission as compared with the other groups. Although long-term remission was revealed in most patients, some patients in Group B demonstrated a decreased rate of remission. Concerning the total dose administered, there was no relation to prognosis; a high dose was not required, especially for patients in Group A. On the other hand, the combination of steroid pulse therapy with IVCY revealed a moderate relation to the increased rate of remission in Group A. However, this combination therapy was not related to the maintenance of remission. There was no adverse effect at late onset. Conclusion The long-term prognosis of IVCY differed according to the patient's clinical course, and the result differed from those reported in other countries. Therefore, we should consider the clinical course and race specificity for the Japanese subject.
Coronary malperfusion complicating Type A aortic dissection is relatively rare. The diagnosis of Type A aortic dissection as the cause of coronary ischemia is a challenge. The mechanism of coronary malperfusion has been proposed. We report a 45-year-old man presenting with acute inferior wall ST segment elevation myocardial infarction who was finally diagnosed to have Type A aortic dissection complicated by hemopericardium and cardiac tamponade. Coronary spasm is the most likely cause of transient myocardial ischemia in this patient and should be considered as another possible cause of coronary malperfusion in patients with Type A aortic dissection.
A 73-year-old man was admitted to our hospital because of bilateral foot pain. He was treated with thrombolysis for cerebral infarction about 5 months ago. Anticoagulants had not been used because of hemorrhagic infarction. The pulses of bilateral pedal arteries were palpable, but cyanosis was present in the bilateral toes. Laboratory data indicated azotemia and eosinophilia. Magnetic resonance imaging revealed multiple plaques of the thoracic and abdominal aorta, one of which was ulcerated. Skin biopsy proved the diagnosis of cholesterol crystal embolism (CCE). Because no invasive vascular procedure was performed, we assumed that CCE in this patient was related to thrombolysis. We should be cautious for late onset of CCE after thrombolysis.
A 73-year-old man was admitted with complaints of a 2-month history of generalized weakness and numbness. Laboratory examination revealed hypercalcemia, metabolic alkalosis, and kidney injury, similar to the traditional milk-alkali syndrome. The clinical history and the response to therapy indicated that alphacalcidol and thiazide taken daily were the cause. Recently, it has been recommended the term "milk-alkali syndrome" be replaced by "calcium-alkali syndrome", which broadens the definition of the condition. This case suggests that the calcium-alkali syndrome can occur without calcium and alkali, but rather with alphacalcidol and a thiazide diuretic.
We report a case of Churg-Strauss syndrome (CSS) presenting as a massive pleural effusion. A 52-year-old asthmatic Japanese woman presented with progressive dyspnea caused by an eosinophilic pleural effusion (EPE). She also had chronic sinusitis, skin lesions and blood eosinophilia, but no antineutrophil cytoplasmic antibodies. Skin biopsy and the late onset of mononeuritis multiplex led to the diagnosis of CSS. The pleural effusion resolved soon after corticosteroid treatment was started. CSS is rare as a cause of EPE, but should be included in the differential diagnosis of EPE in asthmatic patients. This is the first report showing that EPE can precede other vasculitic symptoms in CSS.
We present a case of desquamative interstitial pneumonia (DIP) with elevated serum levels of angiotensin-converting enzyme and lysozyme, which are often found in sarcoidosis. After steroid therapy, improvements in the lung opacity and the serum lysozyme level were observed. Retrospective evaluation of four additional DIP cases showed that four of the five cases studied had an elevated serum lysozyme level. In an immunohistochemical analysis of the lung specimens, increased expression of lysozyme were found in the neutrophils and the alveolar macrophages. Elevated levels of serum lysozyme can occur in diseases such as DIP in which the neutrophil and macrophage activity may affect a patient's pathological condition.
Myeloid sarcoma (MS) is a rare disease that presents as an extramedullary tumor of myeloid cells. Most patients subsequently develop acute myelogenous leukemia (AML), and their prognosis is poor. Here, we report the case of a 28-year-old woman with a primary isolated myeloid sarcoma which originated in the gastrointestinal (GI) tract. Two months after intial presentation, bone marrow tests led to a diagnosis of AML. This case is noteworthy because GI tract infiltration with leukemic cells is very rare, and it is even more rare as an occurrence preceding the development of systemic leukemia.
A 77-year-old man showed bilateral abducens palsies and multiple cranial nerve enhancement on magnetic resonance images (MRI) and aseptic meningitis. He had xerophthalmia and xerostomia. Serum anti-SS-A and anti-SS-B antibodies were present. He had Sjögren's syndrome (SjS) and corticosteroid therapy ameliorated the symptoms. The cranial nerve enhancement and the cerebrospinal fluid findings were normalized. In patients with SjS, there have not been any reports of multiple areas of cranial nerve enhancement on MRI. We propose that in this case the aseptic meningitis and subsequent lymphocytic infiltration to the cranial nerves contributed to the multiple cranial neuropathy and multiple cranial nerve enhancement on MRI.
There have been few reports describing the lesion for cerebellar dysarthria. We compared MRI findings of 4 reported patients (including our previously reported patient) to that of our patient who showed ataxic speech and ataxic gait. The lesions of 4 patients involved lobulus quadrangularis and lobulus simplex, and the lesion of the present patient involved lobulus semilunaris superior and lobulus simplex. Since lobulus simplex and lobulus quadrangularis were involved in many patients, we speculated that the cerebellar dysarthria of the present patient was due to the damage of these areas in the upper cerebellum.
Tracheal glomus tumor is an extremely rare neoplasm resected mostly by open surgery or through rigid bronchoscopy. We report two cases presenting with polypoid masses arising from the tracheal membrane in the posterior wall of the lower tracheal segment. The tumor was removed by high-frequency electrocautery and flexible bronchoscopic argon-plasma coagulation, and follow-up bronchoscopy and chest CT did not reveal tumor recurrence 12 months after the operation. In patients with tracheal glomus tumor who have poor surgical tolerance or are not willing to receive an open surgery, flexible bronchoscopic tumor removal can be a good alternative to relieve the airway obstruction symptoms.