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angiomyolipoma/napad padaczkowy

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Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex.

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OBJECTIVE Renal manifestations of tuberous sclerosis complex (TSC) occur with a high frequency and a wide range of severity. The onset and complications of each affected organ depend on the age. This study aimed to investigate the associations between comorbidities, frequency, and size of
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

[Coincident renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis: a case report].

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The coincidence of renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis is extremely rare, although the coexistence of tuberous sclerosis and renal angiomyolipoma is well recognized. A case of bilateral renal angiomyolipomas and left renal cell carcinoma in a patient with tuberous

Hemorrhagic angiomyolipoma and tuberous sclerosis complex: a case report.

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Tuberous sclerosis was first described in 1862 by von Recklinghausen. Since then there have been many advances in our understanding of the diagnosis, pathogenesis, and treatment of this disease complex, especially after it was characterized genetically. While many patients who have tuberous

Tuberous sclerosis complex presenting as bilateral large renal angiomyolipomas.

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Tuberous sclerosis is an inherited disorder that can present with seizures, mental retardation, cutaneous lesions and visceral hamartomas, but can be entirely asymptomatic. The disease occurs in 1:100 000 persons in all races with nearly equal distribution between the sexes. Tuberous sclerosis is

[The Efficacy of Everolimus for Refractory Seizures in Childhood Onset Epilepsy with Tuberous Sclerosis Complex].

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Everolimus is a mammalian target of rapamycin (mTOR) inhibitor that has cytoreductive effects on subependymal giant cell astrocytoma and renal angiomyolipoma in tuberous sclerosis complex (TSC). Recent studies have also shown its efficacy against refractory seizures in TSC. We investigated the
We are reporting on a 13.5-year-old girl with tuberous sclerosis complex (TSC) who was treated with everolimus because of giant cell astrocytoma and bilateral angiomyolipoma. She suffered from pharmacoresistant partial epilepsy with clusters of tonic and tonic-clonic seizures. Treatment with

[Angiomyolipoma of the kidneys as a rare cause of retroperitoneal hemorrhage. Two case reports with tuberous sclerosis Bourneville-Pringle].

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Tuberous sclerosis (Bourneville-Pringle-disease, TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and hamartomatous tumours in multiple organs, including subependymal giant cell astrocytomas, cardiac rhabdomyomas and renal angiomyolipomas. Recent population-based
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,

Epithelioid angiomyolipoma: a rare variant of renal angiomyolipoma.

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OBJECTIVE We present a case of primary renal epithelioid angiomyolipoma, its association with tuberous sclerosis and review the literature. METHODS We present the case of a 12 year-old male with past medical history of tuberous sclerosis, characterized by developmental delay, tonic and clonic
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

Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas.

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Angiomyolipomas can occur sporadically or in association with tuberous sclerosis complex (TSC). TSC is an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the brain, heart, kidney, and skin. Angiomyolipomas are more common in women than in men,

The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas.

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and hamartomatous tumors in multiple organs, including subependymal giant cell astrocytomas, cardiac rhabdomyomas, and renal angiomyolipomas. Mutations in two genes are associated with
Lymphangiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women almost exclusively. Lung transplantation is the only consistently effective therapy for LAM. Microscopically, LAM consists of a diffuse proliferation of smooth muscle cells. LAM can occur without evidence of other

Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures.

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Introduction: Tuberous sclerosis complex (TSC) is a rare genetic disorder resulting in benign tumors in various organs. It is caused by mutations in TSC1 or TSC2 genes causing hyperactivation of the mammalian target of rapamycin (mTOR) pathway. The majority of patients with TSC
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