Grioni D, Furlan F, Canonico F, Parini R
Child Neuropsychiatric Clinic, San Gerardo Hospital University of Milan Bicocca, Monza, Italy.
Center for Metabolic Diseases MBBM Foundation, San Gerardo Hospital, Monza, Italy.
Neuropediatrics. 2014 Apr;45(2):123-8. doi: 10.1055/s-0033-1360479. Epub 2013 Nov 20.
Argininemia is a rare inherited disorder of the urea cycle because of a deficiency of the enzyme arginase I causing an increase of arginine and guanidino compounds in the blood, urine, and cerebrospinal fluid. The clinical picture is characterized by a mild cognitive dysfunction, progressive asymmetrical paraparesis, and seizures. Here, we describe two cases of argininemia where either epilepsia partialis continua (EPC) or nonconvulsive status epilepticus (NCSE) were the presenting manifestations of epilepsy. This is the first report of EPC in an urea cycle disorder. In both the cases, status epilepticus resolved with anticonvulsive drugs. EPC was successfully treated with levetiracetam, and NCSE with valproic acid. No side effects were observed. Because hyperammonemia and NCSE may have the same features of stupor, a neurophysiological approach might prove useful in differentiating these two conditions. Overall, our results strongly indicate that a correct NCSE diagnosis is mandatory to prevent further deterioration in these patients.
精氨酸血症是一种罕见的尿素循环遗传性疾病，由于精氨酸酶I缺乏，导致血液、尿液和脑脊液中的精氨酸和胍类化合物增加。临床症状表现为轻度认知功能障碍、进行性不对称性截瘫和癫痫发作。在此，我们描述了两例精氨酸血症病例，其中癫痫部分性持续状态（EPC）或非惊厥性癫痫持续状态（NCSE）是癫痫的首发表现。这是尿素循环障碍中EPC的首例报告。在这两例病例中，癫痫持续状态均通过抗惊厥药物得到缓解。EPC用左乙拉西坦成功治疗，NCSE用丙戊酸治疗。未观察到副作用。由于高氨血症和NCSE可能具有相同的木僵特征，神经生理学方法可能有助于区分这两种情况。总体而言，我们的结果强烈表明，正确诊断NCSE对于防止这些患者病情进一步恶化至关重要。
