1/8. Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy.Both pulmonary lymphangioleiomyomatosis and tuberous sclerosis are rare diseases. The optimal management in pregnancy is unclear. A primigravida with pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by worsening renal function secondary to angiomyolipomas was managed conservatively. Favorable maternal and neonatal outcomes were achieved. Pulmonary lymphangioleiomyomatosis is a consideration in tuberous sclerosis patients with respiratory symptoms. tuberous sclerosis patients with pulmonary lymphangioleiomyomatosis require cautious and calculated expectant management in an effort to avoid adverse outcomes.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/8. Pulmonary lymphangioleiomyomatosis in a male patient with tuberous sclerosis complex.Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of unknown etiology that occurs almost exclusively in women of reproductive age. High-resolution computed tomography (HRCT) reveals the striking feature of diffuse cystic changes throughout the lung parenchyma. The correct diagnosis may be delayed by several years after the onset of symptoms because of the rarity of the disease and the need for chest CT scans to identify the lung involvement. We describe a case of pulmonary LAM in a male patient associated with tuberous sclerosis complex (TSC), in whom the early stage of disease could be depicted by chest HRCT scans.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/8. tuberous sclerosis: unusual associations in four cases.tuberous sclerosis is a rare disease with classic primary or secondary changes affecting mainly the cerebrum, skin, kidneys, and heart. Such lesions are generally hamartomatous and thus display malignant features only in rare cases. This paper describes four cases of tuberous sclerosis which were unique in their association with certain unusual congenital, metabolic, and tumorous conditions.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/8. tuberous sclerosis and associated pleuropulmonary lesions.tuberous sclerosis (TS) is a rare disease of the nervous system, being characterized by seizures, mental retardation and adenoma sebaceum. Concomitant pleuropulmonary lesions and spontaneous pneumothorax are extremely rare during the evolution of this disease. To date, only 19 cases of TS and spontaneous pneumothorax have been described in the literature. Here we present a case of TS and associated pleuropulmonary lesions with spontaneous pneumothorax in a 29-year-old female patient. Clinical, roentgenographic and histological aspects of this disease are commented upon.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/8. Pulmonary tuberous sclerosis in a woman of child-bearing age with no mental retardation.tuberous sclerosis is a rare disease characterized by epilepsy, mental retardation and adenoma sebaceum. We describe the case of a 29-year-old woman with a clinical history of tuberous sclerosis who also had severe hypoxaemia, multifocal hamartoma-like lesions of various extrapulmonary organs, massive hypersplenism and coagulation defects. This case emphasizes the value of high resolution computed tomography (HRCT) in patients with pulmonary tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/8. Subependymal giant cell astrocytoma with tuberous sclerosis--case report.tuberous sclerosis is a rare disease of autosomal dominant inheritance and may affect any organ, and less than 2% have a subependymal giant cell astrocytoma. In the present report, a 6-year-old girl with clinical features of tuberous sclerosis had an intraventricular tumor. CT scan and MRI of brain showed a tumor in the lateral ventricles extended into the Foramina of Monro and third ventricle causing severe hydrocephalus. She underwent left frontal craniotomy with partial removal of the tumor. The pathology was subependymal giant cell astrocytoma. Patient's neurological condition improved postoperatively and postoperative CT scan showed no hydrocephalus. Clinical and radiological follow-up of patients with tuberous sclerosis who had subependymal nodules in early childhood is important due to its possibility of subsequent transformation into intraventricular tumor.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/8. Epileptic fit: the most dramatic sign of tuberous sclerosis.This rare disease of dominant inheritance is described with the symptom triad of epilepsy, mental deficiency (oligophrenia) and adenoma sebaceum. The skin manifestation may be manifest in the first year, but the parents seek the help of the physician only when the dramatic symptom of convulsion occurs.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/8. Lymphangiomyomatosis of the uterus associated with tuberous sclerosis and malignant neoplasia of the female genital tract: a report of two cases.Lymphangiomyomatosis (LAM) is a rare disease that does not generally affect the female genital tract. We report two cases of uterine involvement by LAM in young women with tuberous sclerosis and renal angiomyolipomas. In both, the uterine lesions were grossly inapparent and were discovered during microscopic examination of hysterectomy specimens removed during surgical treatment for a primary ovarian adenocarcinoma with peritoneal and lymph node metastases in one case and a retroperitoneal lymphangiomyoma in the other. In one case, an area of uterine LAM with atypical features was interpreted as focal sarcomatous transformation. This patient also had pelvic and paraaortic lymph node involvement by typical lymphangiomyomas, a small uterine angiomyoma, and an occult primary endometrial adenocarcinoma. Immunostains for HMB-45 were strongly positive in the uterine LAM in both cases, the retroperitoneal and lymph node lymphangiomyomatous lesions, the uterine angiomyoma, and a resected renal angiomyolipoma. Although LAM is a rare uterine lesion, it must be distinguished from a variety of uterine smooth-muscle tumors.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |