Evidence map›Paper›PMID 40990277›Full record

ArticleCurrent medical imaging2025

Multimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review.

Song Zhang, Lili Jiang, Mingshun Wan, Bing Zhang, Yongwei Guo, Chao Chen, Rui Wang, Qun Lao, Weifang Yang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Current medical imaging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Song ZhangDepartment of Neurosurgery, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China.ORCID 0000-0002-3149-6171
Lili JiangDepartment of Outpatient, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China.ORCID 0009-0003-6802-2281
Mingshun WanDepartment of Dermatology, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China.ORCID 0009-0005-6187-6107
Bing ZhangDepartment of Ophthalmology, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China.
Yongwei GuoEye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases, Zhejiang Provincial Engineering Institute on Eye Diseases, Hangzhou, Zhejiang, China.ORCID 0000-0001-9195-0770
Chao ChenDepartment of Pediatric Intensive Care Unit, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China.ORCID 0009-0006-9120-2899
Rui WangDepartment of Radiology, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China.ORCID 0009-0008-3102-6437
Qun LaoDepartment of Radiology, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China.ORCID 0000-0001-5251-5151
Weifang YangDepartment of Radiology, Zhejiang Hospital of Integrated Traditional Chinese and Western Medicine, Hangzhou Red Cross Hospital, Hangzhou, Zhejiang, China.ORCID 0009-0008-0426-5440

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionIncontinentia Pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder characterized by cutaneous, ocular, and neurological manifestations. We present a fatal case of IP with atypical neuroimaging findings. CASE PRESENTATION: A 4-month-old female infant presented with generalized hyperpigmentation, palatal cleft, and acute encephalopathy. Initial non-contrast cranial Computed Tomography (CT) demonstrated cerebellar hypoattenuation with punctate calcifications and ventriculomegaly. Subsequent Magnetic Resonance Imaging (MRI) demonstrated extensive ischemia, edema, and hemorrhagic lesions in the brainstem, cerebellum, and cervical spinal cord. Trio-based whole-exome sequencing did not detect pathogenic variants in the Inhibitor of Nuclear Factor Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) gene (NM_003639.3).

conclusionThis case highlights the critical role of neuroimaging in diagnosing IP-related neurological complications and emphasizes the need for early multimodal imaging evaluation. The discordance between clinical phenotype and genetic findings warrants further investigation into novel pathogenic mechanisms.

Indexed as

brain MRIgenetic testingIncontinentia pigmentineuroimagingneurological complications.

Identifiers

PMID40990277
PMCPMC13126292

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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.