Multimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Song Zhang, Lili Jiang, Mingshun Wan, Bing Zhang, Yongwei Guo, Chao Chen, Rui Wang, Qun Lao, Weifang Yang
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4414474096