Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F25%3A10498773" target="_blank" >RIV/00064165:_____/25:10498773 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/25:10498773 RIV/00216208:11130/25:10498773 RIV/00064203:_____/25:10498773

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=xJnL.wMxtB" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=xJnL.wMxtB</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.pediatrneurol.2025.05.008" target="_blank" >10.1016/j.pediatrneurol.2025.05.008</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome

Popis výsledku v původním jazyce

BACKGROUND: Legius syndrome (LGSS) is a rare neurocutaneous disorder that is differentiated from neurofibromatosis type I (NF1) based on pathogenic variants in the SPRED1 gene (15q14). Similar to NF1, LGSS also presents with café-au-lait macules on the skin and sometimes intertriginous freckling; however, the other diagnostic features of NF1 are absent in LGSS. Clinical contradistinction from NF1 is important for an LGSS diagnosis, but molecular genetic confirmation is necessary. Hypersignal areas on T2-weighted magnetic resonance imaging (MRI) (focal areas of signal intensity [FASI]) in specific brain locations are another common clinical finding in NF1. The aim of this study is to compare the incidence of FASI in LGSS and NF1 in an effort to further distinguish these two clinical entities and evaluate the clinical and diagnostic significance of an absence of FASI in LGSS. METHODS: We have examined a group of 16 children with LGSS and a group of 130 children with NF1. All children had been clinically and molecularly diagnosed with LGSS or NF1 and had had MRI examinations of their brains. FASI findings on these scans were evaluated. The independence of FASI on diagnosis was evaluated using the Fischer exact test. RESULTS: FASI were found in 116 of 130 (89%) children with NF1, and no FASI was detected in children with LGSS (zero of 16, 0%). The presence of FASI was significantly dependent on the diagnosis. CONCLUSIONS: We suggest that the absence of FASI on brain MRI examinations of patients with LGSS is an important clinical and diagnostic feature of this disorder.

Název v anglickém jazyce

Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome

Popis výsledku anglicky

BACKGROUND: Legius syndrome (LGSS) is a rare neurocutaneous disorder that is differentiated from neurofibromatosis type I (NF1) based on pathogenic variants in the SPRED1 gene (15q14). Similar to NF1, LGSS also presents with café-au-lait macules on the skin and sometimes intertriginous freckling; however, the other diagnostic features of NF1 are absent in LGSS. Clinical contradistinction from NF1 is important for an LGSS diagnosis, but molecular genetic confirmation is necessary. Hypersignal areas on T2-weighted magnetic resonance imaging (MRI) (focal areas of signal intensity [FASI]) in specific brain locations are another common clinical finding in NF1. The aim of this study is to compare the incidence of FASI in LGSS and NF1 in an effort to further distinguish these two clinical entities and evaluate the clinical and diagnostic significance of an absence of FASI in LGSS. METHODS: We have examined a group of 16 children with LGSS and a group of 130 children with NF1. All children had been clinically and molecularly diagnosed with LGSS or NF1 and had had MRI examinations of their brains. FASI findings on these scans were evaluated. The independence of FASI on diagnosis was evaluated using the Fischer exact test. RESULTS: FASI were found in 116 of 130 (89%) children with NF1, and no FASI was detected in children with LGSS (zero of 16, 0%). The presence of FASI was significantly dependent on the diagnosis. CONCLUSIONS: We suggest that the absence of FASI on brain MRI examinations of patients with LGSS is an important clinical and diagnostic feature of this disorder.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Pediatric Neurology

ISSN

0887-8994

e-ISSN

1873-5150

Svazek periodika

169

Číslo periodika v rámci svazku

August

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

142-147

Kód UT WoS článku

001511895400001

EID výsledku v databázi Scopus

2-s2.0-105007787284