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Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report
Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). It is characterized by café-au-lait macules without the tumoral manifestations of NF1. We report the case of an 11-year-old patient with multiple café-au-lait macules and intertr...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620541/ https://www.ncbi.nlm.nih.gov/pubmed/37927732 http://dx.doi.org/10.7759/cureus.46394 |
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author | Paixao, Filipa Ribeiro, Luisa Costa, Adriana Torre, Maria Ventura, Ana |
author_facet | Paixao, Filipa Ribeiro, Luisa Costa, Adriana Torre, Maria Ventura, Ana |
author_sort | Paixao, Filipa |
collection | PubMed |
description | Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). It is characterized by café-au-lait macules without the tumoral manifestations of NF1. We report the case of an 11-year-old patient with multiple café-au-lait macules and intertriginous freckling who was admitted for bloody stools, joint pain, and weight loss. His clinical and endoscopic findings were consistent with inflammatory bowel disease (IBD). He also met the clinical diagnostic criteria for NF1 but not for LS. Genetic testing played a pivotal role in the differential diagnosis and revealed a loss-of-function mutation in the SPRED1 gene, confirming the diagnosis of LS. This is the first reported case of a patient with IBD and LS. The subtle manifestations of LS make it an underdiagnosed disease, which reduces the likelihood of it being diagnosed in association with other diseases, such as IBD. There are, however, 10 published case reports linking IBD and NF1, and some pathophysiological mechanisms have been proposed. Continued reporting will help clarify the relationship between IBD and RASopathies such as NF1 and LS. |
format | Online Article Text |
id | pubmed-10620541 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-106205412023-11-03 Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report Paixao, Filipa Ribeiro, Luisa Costa, Adriana Torre, Maria Ventura, Ana Cureus Pediatrics Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). It is characterized by café-au-lait macules without the tumoral manifestations of NF1. We report the case of an 11-year-old patient with multiple café-au-lait macules and intertriginous freckling who was admitted for bloody stools, joint pain, and weight loss. His clinical and endoscopic findings were consistent with inflammatory bowel disease (IBD). He also met the clinical diagnostic criteria for NF1 but not for LS. Genetic testing played a pivotal role in the differential diagnosis and revealed a loss-of-function mutation in the SPRED1 gene, confirming the diagnosis of LS. This is the first reported case of a patient with IBD and LS. The subtle manifestations of LS make it an underdiagnosed disease, which reduces the likelihood of it being diagnosed in association with other diseases, such as IBD. There are, however, 10 published case reports linking IBD and NF1, and some pathophysiological mechanisms have been proposed. Continued reporting will help clarify the relationship between IBD and RASopathies such as NF1 and LS. Cureus 2023-10-03 /pmc/articles/PMC10620541/ /pubmed/37927732 http://dx.doi.org/10.7759/cureus.46394 Text en Copyright © 2023, Paixao et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Pediatrics Paixao, Filipa Ribeiro, Luisa Costa, Adriana Torre, Maria Ventura, Ana Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report |
title | Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report |
title_full | Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report |
title_fullStr | Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report |
title_full_unstemmed | Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report |
title_short | Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report |
title_sort | legius syndrome and inflammatory bowel disease: a pediatric case report |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620541/ https://www.ncbi.nlm.nih.gov/pubmed/37927732 http://dx.doi.org/10.7759/cureus.46394 |
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