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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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. |
format | Online Article Text |
id | pubmed-10179347 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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