Hemimegalencephaly and tuberous sclerosis complex
نویسندگان
چکیده
منابع مشابه
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex.
We describe two children with complex cortical malformations as well as the typical intracranial manifestations of tuberous sclerosis complex. One child had hemimegalencephaly and the other had extensive focal megalencephaly. These cases are discussed in terms of the current concepts of cortical malformations.
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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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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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Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...
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Fanling Integrated Treatment Centre, 6/F, Fanling Health Centre, 2 Pik Fung Road, Fanling, New Territories Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous syndrome, may be caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterised by cutaneous changes, neurologic conditions and the formation of hamartomas in mul...
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ژورنال
عنوان ژورنال: Neurology
سال: 2005
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000154465.87255.78