Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00216208:11110/25:10498773 RIV/00216208:11130/25:10498773 RIV/00064203:_____/25:10498773
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome
Original language description
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.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Pediatric Neurology
ISSN
0887-8994
e-ISSN
1873-5150
Volume of the periodical
169
Issue of the periodical within the volume
August
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
142-147
UT code for WoS article
001511895400001
EID of the result in the Scopus database
2-s2.0-105007787284