Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient

• DOI: 10.3389/fped.2024.1490816
• Publication Date: 2025-01-15T06:13:04Z
• Authors: Yun Li; Junbin Hong; Shangge Xu; Tong Zhou; Xiaolan Xiao; Jinghua Yang; Yiting Chen
• Keywords: Incontinentia Pigmenti

This article reports a detailed case of patient with incontinentia pigmenti who exhibited epileptic status and dermatologic symptoms. A 5-month-old female was brought to our hospital due epilepticus, erythematous vesicular skin lesions on her trunk extremities. Routine magnetic resonance imaging revealed infarction, ischemia, encephalomalacia. Skin biopsy pathology indicated pigmentation disorder. Molecular genetic testing conducted identify IKBKG mutations, the finally diagnosed complicated by central nervous system anomalies. She treated oral levetiracetam (10 mg/kg/day, administered every 12 h) control recurrent seizures, prednisone (1 once day) for anti-inflammatory effects. After nine months, have resolved, only few newly developed papules areas hyperpigmentation being evident. There were no epilepsy symptoms, developmental impairments, or other associated