Revised Diagnostic Criteria of Tuberous Sclerosis

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Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

T uberous sclerosis complex (TSC) is a genetic syndrome with a highly variable phenotype that may affect several organ systems. The central nervous system findings were the first to be described, and the classic triad of cognitive impairment, facial angiofibromas, and seizures was delineated shortly thereafter. As the variability and extent of organ involvement were appreciated, diagnostic crit...

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Diagnostic and genetical aspects of tuberous sclerosis.

There have been many reviews of tuberous sclerosis (Critchley and Earl, 1932; Ross and Dickerson, 1943; Dawson, 1954; Reed, Nickel, and Campion, 1963; Paulson and Lyle, 1966; Lagos and Gomez, 1967). The classical features, epilepsy, mental retardation, and adenoma sebaceum, are found in most patients with tuberous sclerosis, while retinal tumours (phakomas), visceral tumours, skeletal lesions, ...

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ژورنال

عنوان ژورنال: Pediatric Neurology Briefs

سال: 2000

ISSN: 2166-6482,1043-3155

DOI: 10.15844/pedneurbriefs-14-5-2