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tuberous sclerosis/turvotus
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Sivu 1 alkaen 54 tuloksia
Pulmonary edema as a complication of transcatheter embolization of renal angiomyolipoma in a patient with pulmonary lymphangioleiomyomatosis due to tuberous sclerosis complex.
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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
Bilateral cystoid macular edema with giant retinal achromic patch in a patient with tuberous sclerosis.
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Retinal astrocytic hamartoma is the most common retinal finding in tuberous sclerosis and has been reported in association with cystoid macular edema. A retinal achromic patch is the second most common retinal finding in tuberous sclerosis. The authors report the first case of bilateral cystoid
Tuberous sclerosis initially seen as hydrops fetalis: report of a case and review of the literature.
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Hydrops fetalis is a manifestation of tuberous sclerosis that previously has not been reported, to our knowledge. The multiple-organ involvement in this disorder is stressed. Support is given to the hypothesis that tuberous sclerosis represents a widespread tissue dysplasia involving all germ
Prenatal diagnosis of giant cardiac rhabdomyoma with fetal hydrops in tuberous sclerosis.
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BACKGROUND
fetal rhabdomyoma is the most common fetal cardiac tumor and is often associated with tuberous sclerosis. Usually the tumors are relatively small and show no mediastinal shift. Fetal hydrops and pericardial effusion are rarely seen.
METHODS
in this case report we present the neonatal
Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis.
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An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually
[Bourneville's tuberous sclerosis with unusual ocular manifestations: papillary edema and band-shaped keratitis].
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Ventricular outflow obstruction, valve aplasia, bradyarrhythmia, pulmonary hypoplasia and non-immune fetal hydrops because of a large rhabdomyoma in a case of unknown tuberous sclerosis: a prenatal diagnosed cardiac rhabdomyoma with multiple symptoms.
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Acute respiratory failure with gross hemoptysis in a patient with lymphangioleiomyomatosis as part of tuberous sclerosis complex.
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A 29-year-old woman was admitted to our hospital with a 7-day history of elevated temperature to 39.5 degrees C associated with headache and nausea. She had been diagnosed with tuberous sclerosis complex 10 years earlier. Her unconsciousness progressed, and she was diagnosed as having aseptic
Perinatal (fetal and neonatal) tuberous sclerosis: a review.
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Tuberous sclerosis (TSC) is an autosomal-dominant disorder that presents with highly variable clinical manifestations including seizures, mental retardation, skin lesions, and hamartomas affecting multiple organ systems such as the heart, brain, eye, and kidney. A 42-year retrospective review of 70
[Nephrotic syndrome in a woman with tuberous sclerosis].
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METHODS
A 50-year-old woman with known tuberous sclerosis complex (TSC) was referred for further work-up of nephrotic syndrome. A left-side nephrectomy due to an anamnestically reported "shrunken kidney" had been performed at the age of 15 years. The patient presented with massive edematous swelling
Tuberous sclerosis in the premature infant: a report of a case with immunohistochemistry on the CNS.
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Numerous hard cortical nodules, a large subependymal giant-cell astrocytoma and a massive rhabdomyoma were described in a hydropic infant of 31 weeks gestation who lived only four hours. With six other documented cases, tuberous sclerosis in premature infants was reviewed in the hope to pinpoint the
Atypical retinitis proliferans, retinal telangiectasis, and vitreous hemorrhage in a patient with tuberous sclerosis.
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This report describes an unusual case of recurrent vitreous hemorrhage and atypical retinal neovascularization in a patient with tuberous sclerosis. During three years of observation, the patient also developed retinal telangiectasis with macular edema and lipid exudation. Although the patient did
Sudden unexpected death associated with HHV-6 in an adolescent with tuberous sclerosis.
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A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except
Tuberous sclerosis and fulminant lupus in a young woman.
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Tuberous sclerosis is an autosomal dominant disorder characterized by involvement of skin, nervous system, kidneys, and lungs. It results from mutations in 1 of 2 genes: TSC1 (encoding hamartin) or TSC2 (encoding tuberin), leading to dysregulation and activation of the mammalian target of rapamycin
Cerebellar pathology in tuberous sclerosis.
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Cerebellar involvement in tuberous sclerosis is rare and generally nonsymptomatic. The authors describe a cerebellar tuber in a 5-year-old boy with tuberous sclerosis. A CT scan at age 2 years showed the characteristic cortical, white matter, and subependymal lesions of tuberous sclerosis. At 5
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