Revised Diagnostic Criteria of Tuberous Sclerosis

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...

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, ...

Revised diagnostic criteria for neurocysticercosis

BACKGROUND A unified set of criteria for neurocysticercosis (NCC) has helped to standardize its diagnosis in different settings. METHODS Cysticercosis experts were convened to update current diagnostic criteria for NCC according to two principles: neuroimaging studies are essential for diagnosis, and all other information provides indirect evidence favoring the diagnosis. Recent diagnostic ad...

Revised diagnostic criteria for Marfan syndrome.

Rett syndrome: revised diagnostic criteria and nomenclature.

OBJECTIVE Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this ...