1/7. recurrence of idiopathic pulmonary hemosiderosis in a young adult patient after bilateral single-lung transplantation.BACKGROUND: Idiopathic pulmonary hemosiderosis (IPH) is a rare disease of unknown etiology characterized by hemoptysis, diffuse pulmonary infiltration, and anemia. Diagnosis requires a detailed clinical history and transbronchial lung biopsy (TLB). methods AND RESULTS: A 19-year-old man developed progressive dyspnea, hemoptysis, and anemia. The chest x-rays showed bilateral opacities. IPH was diagnosed on the basis of clinical findings and TLB. The patient was treated with corticosteroidal therapy. His respiratory function worsened, and he underwent lung transplantation in 1997. The pathological examination on native lungs confirmed the previous histologic diagnosis. In 2000, the patient again developed hemoptysis, fever, and hypoxemia. A recurrence of the disease was established by TLB. CONCLUSIONS: This is the first report of recurring IPH. The possibility of recurrent IPH raises the question whether these patients should be disqualified from lung transplantation. This question is unanswerable because incidence of recurrence, time course, and impact on the graft function are presently unknown and unpredictable.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Longitudinal analysis of hearing loss in a case of hemosiderosis of the central nervous system.OBJECTIVE: To describe cochleovestibular aspects of superficial hemosiderosis of the central nervous system. BACKGROUND: Superficial hemosiderosis of the central nervous system is a rare disease in which cochleovestibular impairment, cerebellar ataxia, and myelopathy are the most frequent signs. Chronic recurrent subarachnoidal hemorrhage with bleeding into the cerebrospinal fluid is the cause of deposition of hemosiderin in leptomeningeal and subpial tissue, cranial nerves, and spinal cord. Removing the cause of bleeding can prevent irreversible damage to these structures. Because this is the only effective treatment, an early diagnosis is crucial. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENT: A 72-year-old woman with superficial hemosiderosis of the central nervous system that developed when she was age 39. methods: Neurologic and imaging diagnostic examinations and longitudinal evaluation of cochleovestibular features were performed. neurosurgery was not performed. RESULTS: Progressive bilateral sensorineural hearing loss and severe vestibular hyporeflexia developed within 15 years, which can be attributed to lesions in the cochleovestibular system. Additional pathology of the central nervous system developed later. CONCLUSION: The patient demonstrated cochlear and vestibular findings that are typical of this pathologic condition. It is the first documented case with extensive serial audiometry used to precisely outline the degree of hearing deterioration during the course of the disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. anemia as the sole presenting symptom of idiopathic pulmonary hemosiderosis: report of two cases.Idiopathic pulmonary hemosiderosis (IPH) is a rare disease in children and has an unknown etiology. It is characterized by the triad of hemoptysis, pulmonary infiltrates on chest radiograph (CXR) and iron deficiency anemia. We report two young children, aged 3 and 4 years, were admitted due to pale-looking appearance but without hemoptysis or other respiratory symptoms. pallor was the sole presenting feature in these 2 children with IPH and which was unusual. CXR obtained on admission led to the suspicion of pulmonary hemorrhage. The diagnosis of IPH was confirmed based on the presence of many hemosiderin-laden macrophages in bronchoalveolar lavage fluid obtained by flexible bronchoscopy. Steroid was initiated after the diagnosis of IPH was established; the both of them have been well and received regular follow-up in our outpatient department. IPH may not be diagnosed because of difficulty in diagnosis. anemia may be the only presenting feature of IPH, which was due to occult pulmonary hemorrhage. Initial treatment with corticosteroids has been successful in our patients for a period of 6 and 8 months of follow up respectively.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Exacerbation of idiopathic pulmonary hemosiderosis in pregnancy.Idiopathic pulmonary hemosiderosis (IPH) is a very rare disease in adults. Its occurrence in pregnancy has been described only once. A case of a 16-yr-old patient with an exacerbation of IPH during pregnancy resulting in intrauterine fetal death in the 28th week of gestation is described. The deterioration of the IPH is most probably related to the hemodynamic alterations which are at their maximum during the seventh month of pregnancy. Although rare, the case suggests that women with IPH should be followed carefully during pregnancy and, in the case of a deterioration in the patient's condition despite immunosuppressive therapy, termination of pregnancy should be considered.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Pulmonary alveolar microlithiasis. A case report with a discussion of differential diagnosis.The rare disease of pulmonary alveolar microlithiasis is characterized by innumerable microscopic stones, mainly of tribasic calcium phosphate, within the pulmonary alveoli. In a 13-year-old boy an earlier radiological examination showed diffuse lung opacity. The main differential diagnoses taken into consideration were sarcoidosis, idiopathic hemosiderosis, diffuse interstitial fibrosis and alveolar proteinosis. The correct diagnosis was made after a lung biopsy which showed intra-alveolar microliths. The radiological findings are in agreement with the reports in the literature. The specific X-ray features of pulmonary alveolar microlithiasis are calcified opacities, nodules, hilifugal trabeculations and pleural striae. These radiological signs are sufficiently diagnostic to restrict lung biopsy to particularly difficult cases. The disease is resistant to all therapeutic measures.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. Superficial hemosiderosis of the central nervous system.Superficial hemosiderosis (SH) of the CNS is a rare disease caused by repeated subarachnoid hemorrhage, with progressive superficial siderosis of the CNS. We report a patient with SH whose clinical picture was marked by progressive gait ataxia, hearing loss, dysarthria, and recurrent episodes of hemifacial spasm. iron and ferritin levels in the CSF were significantly higher than in a control group of patients. Six month's treatment with the iron-chelating agent trientine dihydrochloride led to clinical improvement, with a concomitant reduction of CSF iron level. We suggest that, in addition to magnetic resonance imaging findings, CSF levels of iron and ferritin should be used as diagnostic criteria for SH, as well as to estimate the efficacy of iron chelation treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. Bronchoalveolar lavage findings in a young adult with idiopathic pulmonary haemosiderosis and coeliac disease.Idiopathic pulmonary haemosiderosis is a rare disease of unknown autoimmune aetiology, mainly affecting children and adolescents. A variety of coexisting autoimmune diseases have been described, including coeliac disease. We describe the case of a man, aged 19 yrs, presenting with a one year history of recurrent haemoptysis. Gluten and gliadin antibodies were positive, and the jejunal biopsy revealed villous atrophy consistent with the diagnosis of coeliac disease. bronchoalveolar lavage fluid analysis showed a mean haemosiderin score (Golde index) of 240, and a local suppressor/cytotoxic profile on immunocytology. Both clinical and immunological improvement was obtained after a month of gluten-free diet. These immunological findings provide new insight into the pathogenesis of this disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |