[P2-64] A Rare Cause of Infantile Epileptic Encephalopathy: Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis
Hemimegalencephaly is a rare brain malformation characterized by overgrowth of one cerebral hemisphere. The major clinical features are medically intractable epilepsy, global developmental delay, hemiparesis and hemianopsia. The association of hemimegalencephaly with an ipsilateral congenital infiltrating lipomatosis of the face has been reported very rarely. We report a 3-month-old girl with congenital facial asymmetry and neonatal onset intractable epilepsy. She was the first child of consanguineous parents, and hydrocephaly was detected with fetal ultrasonography at the last trimester. She was born at 39 weeks with a birth weight of 3750 gr. On physical examination she had right hemifacial hypertrophy with soft tissue mass and left-sided hemiparesis. At the age of 1 month she presented with infantile spasms, which were resistant to antiepileptic treatments including phenobarbital, vigabatrin, topiramate, phenytoin and levetiracetam during the course. She was referred to our hospital for epilepsy surgery. Magnetic resonance imaging (MRI) revealed the right-sided infiltrating lipomatosis of the face and ipsilateral hemimegalencephaly associated with cortical developmental abnormality, hemimacrocerebellum, left-frontal cortical developmental malformation. Multiple seizures including clusters of asymmetric epileptic spasms and focal left hemiclonic seizures were recorded with video-electroencephalography (video-EEG) monitorization. Interictal EEG showed burst-supression pattern consistent with modified-hypsarrhythmia pattern predominantly in the right hemisphere. Ictal EEG showed rhythmic multiple spike-and-wave bursts dominant in the right hemisphere. Parents are informed about anatomic hemispherectomy. Combining clinical, neuroimaging and video-EEG monitorization findings in patients with early epileptic encephalopathy is important for accurate diagnosis and management.