Tuberous Sclerosis Complex with Lung Involvement
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چکیده
منابع مشابه
CNS and cutaneous involvement in tuberous sclerosis complex.
A 13-year-old boy with tuberous sclerosis complex (TSC) presented with a painless, gradually progressive area of thickened skin in the occipito-cervical region corresponding to a giant shagreen patch (Figure A). Physical examination demonstrates facial angiofibromas (Figure B) and periungual fibromas. He also presented mental retardation and tonic-clonic seizures. MRI revealed a subependymal no...
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A clinical case of a pulmonary involvement in Tuberous Sclerosis Complex is reported. This rare involvement (1%) is characterized by either interstitial disease or bullae; therefore, pneumothorax is likely to happen in lung parenchyma. Furthermore this complication induces a progressive serious respiratory failure until the death of the patient.
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In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. These patients do not, however, show an increased risk of the common adult solid cancers. Recent evidence that the TSC genes play a role in the phosphoinositide 3-kinase pathway, a pathway whose dysregulatio...
متن کاملThe 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...
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ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2019
ISSN: 0976-3147,0976-3155
DOI: 10.1055/s-0039-3401965