Evidence map›Paper›PMID 40748389›Full record

ArticlePediatric radiology2025

Encephalocraniocutaneous lipomatosis-a neuroradiological perspective.

Dhrumil Deveshkumar Patel, Karen W Gripp, Paige Mcdunnah, Ishita Mishra, Vinay Kandula

Abstract readCase Reports
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In one paragraph

Article in Pediatric radiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Dhrumil Deveshkumar PatelNemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States. dhrumilrad@gmail.com.
Karen W GrippNemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States.
Paige McdunnahNemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States.
Ishita MishraKB Bhabha Hospital, Kurla West, Mumbai, 400070, India.
Vinay KandulaNemours Children's Health, 1600 Rockland Rd, Wilmington, DE, 19803, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

LipomatosisMagnetic Resonance ImagingNeurocutaneous SyndromesDiagnosis, DifferentialEye DiseasesFemaleHumansMaleECCLEncephalocraniocutaneous lipomatosisFGFR1Intracranial lipomaLipomataNeurocutaneous syndromesNevus psiloliparus

Identifiers

PMID40748389

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.