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A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with central nervous system (CNS) involvement. Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the CNS characterized by symptomatic episodes that occur months or years apart and...

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Autores principales: Sforza, Giorgia, Monte, Gabriele, Voci, Alessandra, Figà Talamanca, Lorenzo, Papetti, Laura, Ferilli, Michela Ada Noris, Proietti Checchi, Martina, Valeriani, Massimiliano, Moavero, Romina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179347/
https://www.ncbi.nlm.nih.gov/pubmed/37176724
http://dx.doi.org/10.3390/jcm12093284
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author Sforza, Giorgia
Monte, Gabriele
Voci, Alessandra
Figà Talamanca, Lorenzo
Papetti, Laura
Ferilli, Michela Ada Noris
Proietti Checchi, Martina
Valeriani, Massimiliano
Moavero, Romina
author_facet Sforza, Giorgia
Monte, Gabriele
Voci, Alessandra
Figà Talamanca, Lorenzo
Papetti, Laura
Ferilli, Michela Ada Noris
Proietti Checchi, Martina
Valeriani, Massimiliano
Moavero, Romina
author_sort Sforza, Giorgia
collection PubMed
description Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with central nervous system (CNS) involvement. Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the CNS characterized by symptomatic episodes that occur months or years apart and affect different anatomic locations. In the absence of symptomatic episodes, radiologically isolated syndrome (RIS) could be diagnosed. Here, we report the case of a 10-year-old boy followed-up for TSC and diagnosed with RIS after a routine neuroimaging assessment. Case description: The patient was diagnosed with TSC after seizure onset at the age of 4 years. The follow-up magnetic resonance imaging (MRI) showed multiple asymptomatic demyelinating lesions. Brain and spinal cord MRI was performed after 2 months and showed additional lesions in the right frontal white matter and left cerebral peduncle, the latter with contrast enhancement. Therefore, he received a diagnosis of RIS. Visual evoked potentials were normal. Cerebrospinal fluid examination showed oligoclonal bands. The search for AQP4-IgG and MOG-IgG antibodies was negative. He was treated with interferon beta-1a. Six months later, follow-up MRI revealed no new demyelinating lesions and resolution of contrast enhancement. Conclusion: To the best of our knowledge, this is the third reported patient presenting a co-occurrence of TSC and demyelinating disease. Although we cannot state if the described comorbidity is casual or not, some clinical and preclinical data suggest that the mTOR complex might be the link between TSC and demyelinating disease.
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spelling pubmed-101793472023-05-13 A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome Sforza, Giorgia Monte, Gabriele Voci, Alessandra Figà Talamanca, Lorenzo Papetti, Laura Ferilli, Michela Ada Noris Proietti Checchi, Martina Valeriani, Massimiliano Moavero, Romina J Clin Med Case Report Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with central nervous system (CNS) involvement. Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the CNS characterized by symptomatic episodes that occur months or years apart and affect different anatomic locations. In the absence of symptomatic episodes, radiologically isolated syndrome (RIS) could be diagnosed. Here, we report the case of a 10-year-old boy followed-up for TSC and diagnosed with RIS after a routine neuroimaging assessment. Case description: The patient was diagnosed with TSC after seizure onset at the age of 4 years. The follow-up magnetic resonance imaging (MRI) showed multiple asymptomatic demyelinating lesions. Brain and spinal cord MRI was performed after 2 months and showed additional lesions in the right frontal white matter and left cerebral peduncle, the latter with contrast enhancement. Therefore, he received a diagnosis of RIS. Visual evoked potentials were normal. Cerebrospinal fluid examination showed oligoclonal bands. The search for AQP4-IgG and MOG-IgG antibodies was negative. He was treated with interferon beta-1a. Six months later, follow-up MRI revealed no new demyelinating lesions and resolution of contrast enhancement. Conclusion: To the best of our knowledge, this is the third reported patient presenting a co-occurrence of TSC and demyelinating disease. Although we cannot state if the described comorbidity is casual or not, some clinical and preclinical data suggest that the mTOR complex might be the link between TSC and demyelinating disease. MDPI 2023-05-05 /pmc/articles/PMC10179347/ /pubmed/37176724 http://dx.doi.org/10.3390/jcm12093284 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Sforza, Giorgia
Monte, Gabriele
Voci, Alessandra
Figà Talamanca, Lorenzo
Papetti, Laura
Ferilli, Michela Ada Noris
Proietti Checchi, Martina
Valeriani, Massimiliano
Moavero, Romina
A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome
title A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome
title_full A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome
title_fullStr A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome
title_full_unstemmed A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome
title_short A Case Report of Pediatric Patient with Tuberous Sclerosis and Radiologically Isolated Syndrome
title_sort case report of pediatric patient with tuberous sclerosis and radiologically isolated syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179347/
https://www.ncbi.nlm.nih.gov/pubmed/37176724
http://dx.doi.org/10.3390/jcm12093284
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