{"title":"Encephalocraniocutaneous lipomatosis-a neuroradiological perspective.","authors":"Dhrumil Deveshkumar Patel, Karen W Gripp, Paige Mcdunnah, Ishita Mishra, Vinay Kandula","doi":"10.1007/s00247-025-06346-8","DOIUrl":null,"url":null,"abstract":"<p><p>This report aims to demonstrate the phenotypic, radiological, and genetic features of encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous disorder characterized by a distinct triad of congenital skin lesions, ocular anomalies, and central nervous system (CNS) abnormalities. The mosaic nature of ECCL puts the radiologist in a unique position to facilitate its prompt diagnosis. In the patient reported here, pulmonic stenosis and facial dysmorphism initially raised the suspicion of Noonan syndrome, which was unsupported by genetic testing. Serial imaging revealed multiple intracranial lipomas and glioma along with a clinically evident nevus psiloliparus, prompting further genetic evaluation. This identified a novel de novo variant in FGFR1 (c.1685A > C, p.Glu562Ala). The variant appeared heterozygous in blood and cheek swab cells derived DNA, contrasting with the typical mosaic nature of variants in ECCL.</p>","PeriodicalId":19755,"journal":{"name":"Pediatric Radiology","volume":" ","pages":""},"PeriodicalIF":2.3000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Radiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00247-025-06346-8","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
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Abstract
This report aims to demonstrate the phenotypic, radiological, and genetic features of encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous disorder characterized by a distinct triad of congenital skin lesions, ocular anomalies, and central nervous system (CNS) abnormalities. The mosaic nature of ECCL puts the radiologist in a unique position to facilitate its prompt diagnosis. In the patient reported here, pulmonic stenosis and facial dysmorphism initially raised the suspicion of Noonan syndrome, which was unsupported by genetic testing. Serial imaging revealed multiple intracranial lipomas and glioma along with a clinically evident nevus psiloliparus, prompting further genetic evaluation. This identified a novel de novo variant in FGFR1 (c.1685A > C, p.Glu562Ala). The variant appeared heterozygous in blood and cheek swab cells derived DNA, contrasting with the typical mosaic nature of variants in ECCL.
期刊介绍：
Official Journal of the European Society of Pediatric Radiology, the Society for Pediatric Radiology and the Asian and Oceanic Society for Pediatric Radiology
Pediatric Radiology informs its readers of new findings and progress in all areas of pediatric imaging and in related fields. This is achieved by a blend of original papers, complemented by reviews that set out the present state of knowledge in a particular area of the specialty or summarize specific topics in which discussion has led to clear conclusions. Advances in technology, methodology, apparatus and auxiliary equipment are presented, and modifications of standard techniques are described.
Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.
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