Balestri Martina, Cappelletti Simona, Valeriani Massimiliano, Vigevano Federico
Neurology Division, Bambino Gesù Children Hospital, IRCCS, Rome, Italy; PhD School in Applied Neurological Sciences, University of Siena, Italy.
Unit of Clinical Psychology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pediatr Neurol. 2015 Jan;52(1):104-6. doi: 10.1016/j.pediatrneurol.2014.08.023. Epub 2014 Sep 4.
Lipoproteinosis is a rare autosomal recessive disorder caused by a mutation in a gene (ECM1) on chromosome 1q21. Alterations of membrane and vessels in the dermal-epidermal junction represent the pathologic background of the disease. Calcification in the temporal lobes and hippocampi are common and may be associated with epileptic seizures.
We describe a 7-year-old girl with lipoproteinosis who presented with hoarseness, typical skin lesions, and seizures.
Video electroencephalography demonstrated focal temporal lobe seizures. Intelligence quotient was normal, but psychologic tests revealed depressed mood. Neuroimaging revealed bilateral mesial temporal lobe calcifications.
The report reveals that the temporal lobe calcifications and the consequent epileptic seizures can appear even very early. The psychological signs may reflect limbic system dysfunction.
脂蛋白沉积症是一种罕见的常染色体隐性疾病，由1q21染色体上的一个基因（ECM1）突变引起。真皮 - 表皮交界处的膜和血管改变是该疾病的病理基础。颞叶和海马体钙化很常见，可能与癫痫发作有关。
我们报告一名7岁脂蛋白沉积症女孩，表现为声音嘶哑、典型皮肤病变和癫痫发作。
视频脑电图显示局灶性颞叶癫痫发作。智商正常，但心理测试显示情绪低落。神经影像学检查发现双侧内侧颞叶钙化。
该报告显示颞叶钙化及随之而来的癫痫发作甚至可能很早就出现。心理症状可能反映边缘系统功能障碍。
