Intussusception in the Setting of Tuberous Sclerosis Complex
نویسندگان
چکیده
منابع مشابه
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...
متن کاملTuberous 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...
متن کاملTuberous 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 ...
متن کاملTuberous 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 ...
متن کاملIntrarenal aneurysms in the tuberous sclerosis complex
The tuberous sclerosis complex (TSC, OMIM 191100) is a rare autosomal dominant syndrome of high penetrance characterized by hamartoma in multiple organs, namely brain, kidneys, heart, skin, eyes and lungs [1]. The classic clinical triad includes seizures, mental retardation and cutaneous adenoma sebacea. Besides common vascular abnormalities observed in angiomyolipoma, TSC can be associated wit...
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ژورنال
عنوان ژورنال: ACG Case Reports Journal
سال: 2019
ISSN: 2326-3253
DOI: 10.14309/crj.0000000000000244