Frontiers in pediatrics · 2025
Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Li Yun, Hong Junbin, Xu Shangge, Zhou Tong, Xiao Xiaolan, Yang Jinghua, Chen Yiting
Аннотация
INTRODUCTION: This article reports a detailed case of a patient with incontinentia pigmenti who exhibited epileptic status and dermatologic symptoms.
CASE PRESENTATION: A 5-month-old female patient was brought to our hospital due to status epilepticus, with erythematous vesicular skin lesions on her trunk and extremities. Routine magnetic resonance imaging revealed infarction, ischemia, and encephalomalacia. Skin biopsy pathology indicated pigmentation disorder. Molecular genetic testing was conducted to identify IKBKG mutations, and the case was finally diagnosed with incontinentia pigmenti complicated by central nervous system anomalies. She was treated with oral levetiracetam (10 mg/kg/day, administered every 12 h) to control her recurrent seizures, and prednisone (1 mg/kg/day, once a day) for anti-inflammatory effects.
CONCLUSION: After nine months, her skin lesions have resolved, with only a few newly developed erythematous papules and areas of hyperpigmentation being evident. There were no recurrent epilepsy symptoms, developmental impairments, or other associated symptoms.
CASE PRESENTATION: A 5-month-old female patient was brought to our hospital due to status epilepticus, with erythematous vesicular skin lesions on her trunk and extremities. Routine magnetic resonance imaging revealed infarction, ischemia, and encephalomalacia. Skin biopsy pathology indicated pigmentation disorder. Molecular genetic testing was conducted to identify IKBKG mutations, and the case was finally diagnosed with incontinentia pigmenti complicated by central nervous system anomalies. She was treated with oral levetiracetam (10 mg/kg/day, administered every 12 h) to control her recurrent seizures, and prednisone (1 mg/kg/day, once a day) for anti-inflammatory effects.
CONCLUSION: After nine months, her skin lesions have resolved, with only a few newly developed erythematous papules and areas of hyperpigmentation being evident. There were no recurrent epilepsy symptoms, developmental impairments, or other associated symptoms.