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• W2324320280 abstract "Introduction: Tuberous sclerosis is an autosomal dominant genetic disorder with multisystem clinical manifestations. The expanded phenotype is now called the tuberous sclerosis complex (TSC), to emphasize the multiorgan involvement, characterized by the formation of hamartomatous lesions in the brain, heart, skin, kidney, lung and other organs. The incidence is approximately 1:6000 newborns and the diagnosis typically occurs during childhood, with most patients presenting with seizures or cutaneous involvement. Vascular manifestations of TS are now being more frequently acknowledged, and although significant vascular lesions are rare, they can be life threatening. Because of the wide range of organs affected, a multidisciplinary team approach is ideal and produces the best outcomes for patients. Treatment options for TSC have been limited, focusing primarily on the management of symptoms. Case report: A 38-year-old woman was referred to the Neurology clinic due to a family history of TSC (the daughter had been diagnosed with TSC at the age of 8 months, in the context of epilepsy) and suspicious skin lesions. The patient denied a history of seizures or other neurological symptoms, although she reported a mild learning disability in school. The patient had a background of arterial hypertension and aortic arch aneurysm that had been surgically corrected two years before. On physical examination, several skin lesions were present (hypomelanotic macules, angiofibromas and hyperpigmented nevus) on the face, neck, legs and arms; according to the patient, these lesions had been present since childhood. The neurological examination was unremarkable. The brain MRI revealed the presence of cortical and subcortical tubers, a number of small subependymal nodules in the walls of the lateral ventricles and a nodular lesion with intense gadolinium enhancement located on the left lateral ventricle near the foramen of Monro, suggestive of a subependymal giant cell astrocytoma. The renal ultrasound showed multiple hyperechoic nodular formations, likely angiomyolipomas. Abdominal MRI further identified multiple angiolipomas and cystic formations in the kidney, and a liver hemangioma. The chest CT did not show significant changes in lung interstitium, only ground-glass opacities in the middle lobe adjacent to the large fissure. An ophthalmological evaluation excluded retinal lesions and a dentistry workup revealed gingival fibromas and a tongue lesion that the patient refused to biopsy. Conclusions: The patient fulfills clinical criteria for definite TSC. Although the patient has multisystem involvement, the diagnosis was delayed until adulthood, a fact that underscores the importance of recognizing the full spectrum of signs and symptoms of this condition. Also, this case is atypical for its significant vascular involvement (aortic arch aneurysm), which is a rare manifestation of TSC, especially in adults. To conclude, it is important that physicians recognize the full spectrum of manifestations of TSC, including the most unusual, so not to miss the diagnosis." @default.
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• W2324320280 date "2013-10-01" @default.
• W2324320280 modified "2023-09-26" @default.
• W2324320280 title "A delayed diagnosis of tuberous sclerosis" @default.
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• W2324320280 doi "https://doi.org/10.1016/j.ejim.2013.08.474" @default.
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