Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Oct 3;15(10):e46394.
doi: 10.7759/cureus.46394. eCollection 2023 Oct.

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report

Filipa Paixao  1 , Luisa Ribeiro  1 , Adriana Costa  1 , Maria Torre  1 , Ana Ventura  1
Affiliations
Case Reports

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report

Filipa Paixao et al. Cureus. .

Abstract

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.

Keywords: café-au-lait macules; inflammatory bowel disease; legius syndrome; neurofibromatosis; pediatrics.

PubMed Disclaimer

Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Intertriginous freckling and café-au-lait spot.
Left axillary freckling and café-au-lait spot (>10 mm).
Figure 2
Figure 2. Café-au-lait macules.
Three dorsal café-au-lait macules (>5 mm).
See this image and copyright information in PMC

References

    1. Legius E, Stevenson D. GeneReviews®. Seattle: University of Washington; 2020. Legius Syndrome. - PubMed
    1. Legius syndrome: case report and review of literature. Benelli E, Bruno I, Belcaro C, Ventura A, Berti I. Ital J Pediatr. 2015;41:8. - PMC - PubMed
    1. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. Pasmant E, Gilbert-Dussardier B, Petit A, et al. Oncogene. 2015;34:631–638. - PubMed
    1. ESPGHAN revised porto criteria for the diagnosis of inflammatory bowel disease in children and adolescents. Levine A, Koletzko S, Turner D, et al. J Pediatr Gastroenterol Nutr. 2014;58:795–806. - PubMed
    1. Extraintestinal manifestations of pediatric inflammatory bowel disease and their relation to disease type and severity. Dotson JL, Hyams JS, Markowitz J, et al. J Pediatr Gastroenterol Nutr. 2010;51:140–145. - PubMed

Publication types

LinkOut - more resources