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

doi:10.2174/0115734056399655250905074918

ISSN: 1573-4056
E-ISSN: 1875-6603

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oa Multimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review
Authors: Song Zhang¹, Lili Jiang², Mingshun Wan³, Bing Zhang⁴, Yongwei Guo⁵, Chao Chen⁶, Rui Wang⁷, Qun Lao⁷ and Weifang Yang⁸
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¹ Department of Neurosurgery, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China ² Department of Outpatient, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China ³ Department of Dermatology, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China ⁴ Department of Ophthalmology, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China ⁵ Eye 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 ⁶ Department of Pediatric Intensive Care Unit, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China ⁷ Department of Radiology, Hangzhou Children's Hospital, Hangzhou Normal University, Hangzhou City, China ⁸ Department of Radiology, Zhejiang Hospital of Integrated Traditional Chinese and Western Medicine, Hangzhou Red Cross Hospital, Hangzhou, Zhejiang, China
Source: Current Medical Imaging, Volume 21, Issue 1, Jan 2025, E15734056399655
DOI: https://doi.org/10.2174/0115734056399655250905074918
- Received: 20 Apr 2025
- Accepted: 07 Jul 2025
- Available online: 19 Sep 2025

Abstract

Introduction

Incontinentia 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).

Conclusion

This 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.

This is an open access article published under CC BY 4.0 https://creativecommons.org/licenses/by/4.0/legalcode

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2026-02-02

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/content/journals/cmir/10.2174/0115734056399655250905074918

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

Curr. Med. Imaging 21, E15734056399655 (2025); https://doi.org/10.2174/0115734056399655250905074918

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Article Type: Case Report

Keyword(s): brain MRI; CT; genetic testing; Incontinentia pigmenti; neuroimaging; neurological complications; Novel pathogenic mechanisms

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

Abstract

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