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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tuberous sclerosis is a rare autosomal dominant neurocutaneous syndrome characterized by the presence of benign congenital tumors in multiple organs. The diagnosis is usually established on the basis of diagnostic criteria applied to physical or radiologic findings. Because the classical triad of epilepsy, mental retardation, and adenoma sebaceum is uncommonly seen at clinical examination, radiologic examinations can play an important role in the diagnosis of tuberous sclerosis and in treatment. Cardiac rhabdomyoma, renal angiomyolipoma, and neurologic involvement encompassing cortical or subependymal tubers and white matter abnormalities are the common radiologic findings. Detection of these entities can be strong evidence for suspecting tuberous sclerosis. The presence of pulmonary lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, or multiple renal cysts also raises suspicion of tuberous sclerosis. Moreover, tuberous sclerosis can involve bone, liver, and the alimentary tract. The clinical course and patient prognosis depend on the sites of manifestations. Familiarity with the clinical and radiologic findings in various organs is crucial in diagnosis and treatment.
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PMID:Pictorial review of tuberous sclerosis in various organs. 1877 74

Angiomyolipoma (AML) is a benign clonal neoplasm that consists of varying amounts of mature adipose tissue, smooth muscle, and thick-walled vessels. Approximately 20% of AMLs are found in patients with tuberous sclerosis syndrome (TS), an autosomal-dominant disorder characterized by mental retardation, epilepsy, and adenoma sebaceous, a distinctive skin lesion. Massive retroperitoneal hemorrhage from AML, also known as Wunderlich's syndrome, has been found in up to 10% of patients and represents the most significant and feared complication. The presence of even a small amount of fat within a renal lesion on CT scan (confirmed by Hounsfield unit's < or = 10) is considered diagnostic of AML. Intervention should be considered for larger tumors, particularly if the patient is symptomatic, taking into account patient age, comorbidities, and other related factors. A nephron-sparing approach, via either partial nephrectomy or selective embolization, is clearly preferred. We present the case of a fifty-nine-year old patient with an angiomyolipoma and massive retroperitoneal hemorrhage with Lenk syndrome.
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PMID:[Angiomyolipoma and Lenk syndrome: case report]. 1901 86

Tuberous sclerosis complex (TSC) is a genetic and systemic disorder characterized by benign hamartomatous tumors that involve multiple organ systems. The classical clinical triad of TSC consists of seizure, adenoma sebaceum (facial angiofibromata) and mental retardation. Renal angiomyolipomas are documented in approximately 40 - 80% of tuberous sclerosis patients and usually are small and asymptomatic. Less frequently nodules are large and lead to retroperitoneal hemorrhage. In these cases diagnosis can be difficult but definitive only after the histological examination or the systemic investigation of other possible tissue involvements. We describe the case of a 28 year old woman who came to the emergency department with acute postprandial abdominal pain and severe anemia due to hemorrhagic renal angiomyolipoma treated by nephrectomy in whom the following examination led to the diagnosis of TSC.
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PMID:Spontaneous retroperitoneal hemorrhage due to massive rupture of renal angiomyolipoma treated with nephrectomy: an unusual onset of tuberous sclerosis complex. 1935 78

Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by seizures, mental retardation, and various hamartomatous lesions, including renal angiomyolipoma (AML) and pulmonary lymphangioleiomyomatosis. A 22-year-old woman with TSC presented with multiple renal AMLs exceeding 4 cm in diameter. She underwent two transcatheter embolization procedures with a mixture of ethanol and iodized oil. She complained of dyspnea and minor hemoptysis 4 and 6 hours after the procedure. Findings on chest radiographs and computed tomographic images were indicative of pulmonary edema. The patient was treated with conservative therapy. The possible causes of the pulmonary edema are discussed in the text.
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PMID:Pulmonary edema as a complication of transcatheter embolization of renal angiomyolipoma in a patient with pulmonary lymphangioleiomyomatosis due to tuberous sclerosis complex. 1946 8

Angiomyolipomas (AML) are mesenchymal tumors of the kidney consisting of varying proportions of vascular, immature smooth muscle and mature fat cells. A rare case of testicular AML is described. A 53 year old male with a history of congenital motor defects, mental retardation, and hypertension, presented to the emergency room with sudden onset, severe left testicular pain. Scrotal sonography demonstrated an hypoechoic mass in the patient's left testicle. The patient was offered and underwent a trans-inguinal exploration of the left testicle which ended in a left inguinal orchiectomy. Pathologic examination of the mass revealed medium to large calibre thick-walled blood vessels with ectatic lumina, surround by sclerotic, fibrous smooth muscle bundles in a fatty milieu. Immunohistochemistry of the lesion demonstrated positive staining for smooth muscle actin (SMA+) and endothelial marker CD34. The lesion did not, however, stain positively for smooth muscle antigen S100 or melanocytic antigen HMB-45.
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PMID:A case of angiomyolipoma of the spermatic cord and testicle. 2321 Apr 12

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. It is characterized by the development of multiple, benign tumors in several organs throughout the body. Lesions occur in the brain, kidneys, heart, liver, lungs, and skin and result in seizures and epilepsy, mental retardation, autism, and renal and pulmonary organ system dysfunction, as well as other complications. Elucidation of the molecular pathways and etiological factors responsible for causing TSC has led to a paradigm shift in the management and treatment of the disease. TSC1 or TSC2 mutations lead to constitutive upregulation of the mammalian target of rapamycin pathway, which affects many cellular processes involved in tumor growth. By targeting mammalian target of rapamycin with everolimus, an orally active rapamycin derivative, clinically meaningful and statistically significant reductions in tumor burden have been achieved for the main brain (subependymal giant cell astrocytoma) and renal manifestations (angiomyolipoma) associated with TSC. This review provides an overview of TSC, everolimus, and the clinical trials that led to its approval for the treatment of TSC-associated subependymal giant cell astrocytoma and renal angiomyolipoma.
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PMID:Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. 2414 74

Tuberous sclerosis complex (TSC), a multisystem genetic syndrome, often affects the central nervous system. The age of onset of TSC ranges from 0 to 15 years. The clinical features manifest as a combination of seizures, mental retardation, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma. Most cases of TSC are caused by mutations of the TSC1 or TSC2 genes. We characterized a Chinese patient with a novel de novo mutation in the TSC2 gene associated with the TSC detected by next-generation sequencing.
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PMID:A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex. 2777 63

Tuberous sclerosis (TS) is a relatively rare multi-organ disorder generally diagnosed in infancy and described as a clinical triad of sebaceous adenoma, mental retardation, and seizures. Angiomyolipoma (AML) is the most common benign renal tumor usually found incidentally as a solitary small echogenic lesion on grayscale ultrasound. Less commonly, it is part of the TS complex and is seen as multiple lesions in both kidneys. We describe an unusual case of TS incidentally diagnosed in a 37-year-old female patient with several and bilateral renal AMLs and a single cortical-subcortical tuber in the right parieto-occipital cerebral lobe.
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PMID:An unusual case of tuberous sclerosis incidentally discovered in adulthood: case report and review of the literature. 3061 24


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