Tuberous Sclerosis: Diagnostic Criteria
نویسندگان
چکیده
منابع مشابه
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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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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Tuberous sclerosis - also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disorder affecting cellular differentiation & proliferation, which results in hamartoma formation in many organs. The classic triad of clinical features comprises mental retardation, epilepsy & skin lesion, but these three features are not always present. Mrs. Jahanara Khatun, a 30 years old lady...
متن کاملtuberous sclerosis
A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure w...
متن کاملCardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.
Echocardiography was performed in 60 people with tuberous sclerosis to ascertain the prevalence and course of cardiac rhabdomyomata at different ages. Twenty five (58%) of 43 children had tumours, but only three (18%) of 17 adults. The tumours tended to remain the same size through childhood. Only three infants were included but evidence from this and some published case reports suggest that th...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1992
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-6-6-12