Clinical findings of the phakomatoses: Tuberous sclerosis

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[Clinical findings in 67 patients with tuberous sclerosis].

BACKGROUND Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. OBJECTIVE. To report the clinical findings in a series of 67 patients with tuberous sclerosis. MATERIAL AND METHODS This was a descriptive and observational retrospective study of patients with tuberous sclerosis referr...

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Findings in 67 patients With tuberous sclerosis

Manuscript accepted for publication November 12, 2008. Abstract. Background. Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. Objective. To report the clinical findings in a series of 67 patients with tuberous sclerosis. Material and methods. This was a descriptive and observation...

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Tuberous sclerosis: CT and MR findings.

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Diffusion weighted MR findings of brain involvement in tuberous sclerosis.

PURPOSE Diffusion Weighted Imaging (DWI) is effective in identifying microstructural cerebral parenchymal changes. We studied the diffusion characteristics of hamartomas and normal white matter in cases with tuberous sclerosis (TS). MATERIALS AND METHODS Diffusion weighted images of 6 TS cases (ages between 3 - 15 years, mean 9.0 years, SD 4.4 years) that presented to our center for magnetic ...

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Myocardial Fatty Foci in Tuberous Sclerosis Complex: Imaging Findings

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome. The hallmark of the disease is multiple hamartomatous lesions in multiple organ systems. Common cardiac manifestations of TSC are rhabdomyomas, which are a benign tumor of striated muscle. In some patients with TSC, myocardial fatty foci (MFF) deposition has been described with or without the presence of rhabdomyoma...

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ژورنال

عنوان ژورنال: Neurology

سال: 2005

ISSN: 0028-3878,1526-632X

DOI: 10.1212/01.wnl.0000185111.89432.95