Cortical Tubers Without Neurological Symptoms: An Uncommon Case of Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a genetic disorder and rare type of neurocutaneous syndrome characterized by development of benign nodules in various organs of the body including the brain, skin, kidneys, and heart. Epilepsy and mental retardation are common neurological manifestations of this disorder in most cases. However, cases with isolated cutaneous findings and preserved neurological function are rare and have not been well reported in the literature. The purpose of this case report is to highlight the phenotypic variation in the TSC phenotype and to stress the need for increased clinical vigilance in atypical cases. Keywords: Angiofibroma, Cortical tubers, Neurocutaneous syndrome, Shagreen patch, Tuberous sclerosis complex (TSC)

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-02-13
DOI
https://doi.org/10.5281/zenodo.14839930
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
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article

Cortical Tubers Without Neurological Symptoms: An Uncommon Case of Tuberous Sclerosis Complex

Zenodo (CERN European Organization for Nuclear Research)
Tuberous Sclerosis Complex Research
article

Cortical Tubers Without Neurological Symptoms: An Uncommon Case of Tuberous Sclerosis Complex

article en

Abstract

Tuberous Sclerosis Complex (TSC) is a genetic disorder and rare type of neurocutaneous syndrome characterized by development of benign nodules in various organs of the body including the brain, skin, kidneys, and heart. Epilepsy and mental retardation are common neurological manifestations of this disorder in most cases. However, cases with isolated cutaneous findings and preserved neurological function are rare and have not been well reported in the literature. The purpose of this case report is to highlight the phenotypic variation in the TSC phenotype and to stress the need for increased clinical vigilance in atypical cases. Keywords: Angiofibroma, Cortical tubers, Neurocutaneous syndrome, Shagreen patch, Tuberous sclerosis complex (TSC)

Zenodo (CERN European Organization for Nuclear Research)
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Tuberous Sclerosis Complex Research
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