The potpourri of clinical signs in tuberous sclerosis complex

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Signs and Symptoms of Tuberous Sclerosis Complex

Pogancev MK1*, Tatjana RM2 and Ivana PS3 1Child and Youth Health Care Institute of Vojvodina, Novi Sad, Serbia 2Department of Developmental Neurology, School of Medicine, University of Novi Sad, Serbia 3Department of Developmental Neurology and Epileptology-Pediatritians, School of Medicine, University of Novi Sad, Serbia *Corresponding author: Marija Knezevic Pogancev, Child and Youth Health C...

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The tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated t...

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Tuberous sclerosis complex.

Contrast enhanced computed tomography revealed a large well-circumscribed heterogenous retroperitoneal mass measuring 25 × 20 cm arising from the left kidney with predominant fat attenuation. Multiple smaller lesions were seen in the opposite kidney. Features were suggestive of diffuse angiomyolipomatosis of the kidneys. Hypodense lesions were also seen involving the lungslymphangioleiomyomatos...

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Tuberous Sclerosis Complex in Autism

OBJECTIVE To study the prevalence rate of tuberous sclerosis complex in autistic disorder. METHODS We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005-2009), we collected ...

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Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

BACKGROUND Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective ...

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ژورنال

عنوان ژورنال: Annals of Indian Academy of Neurology

سال: 2021

ISSN: 0972-2327

DOI: 10.4103/aian.aian_590_20