난치성 간질을 동반한 Parry-Romberg 증후군 1례

A Case of Parry-Romberg Syndrome With Intractable Seizure

저자들은 정신 지체, 발달 지연, 안면 좌우 비대칭, 난치성 간질증상을 보인 5세 된 남자 환아에서 임상양상과 뇌 자기공명영상의 우측 기저핵의 석회화 소견에 의해 Parry-Romberg 증후군으로 진단된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Parry-Romberg syndrome, first described in 1825 by Parry and in 1846 by Romberg, is a rare disorder characterized by a progressive hemifacial atrophy of the skin and adipose tissue and atrophy of muscle, cartilage, and underlying bony structures. It is sometimes accompanied with such complications as ophthalmologic abnormality, localized alopecia and neurologic symptoms, for example, contralateral Jacksonian epilepsy, trigeminal neuralgia, migrane and hemiplegia. The onset is slow and progressive, starting at the first or second decade of life and lasting for 2-10 years, ending with a face being 'burned out'. It is often associated with epilepsy but the link between these two conditions is poorly understood. In patients with progressive hemifacial atrophy, a high incidence of abnormal neuroradiologic findings in the brain has been reported. Brain MRI findings include cerebral hemiatrophy, cortical calcification, unilateral focal infarction in the corpus callosum, diffuse deep and subcortical white matter signal changes and mild cortical thickening. We report a case of Parry-Romberg syndrome in a 5-year-old boy who had a progressive Rt. facial hemiatrophy with intractable epilepsy and basal ganglia calcification from brain MRI.