Department of Radiology, Tuen Mun Hospital, Hong Kong Special Administrative Region, China.
Pediatr Neurol. 2012 Oct;47(4):263-9. doi: 10.1016/j.pediatrneurol.2012.06.012.
In areas without expanded newborn screening, instead of presenting neonatally, patients with arginase deficiency typically present with spastic paraplegia in early childhood. Diagnosis of this rare neurometabolic disease poses the first challenge because it is often misdiagnosed as cerebral palsy during initial stages. We describe arginase deficiency in a 20-year-old woman with spastic paraplegia, progressive dystonia, dementia, peripheral neuropathy, epilepsy, liver cirrhosis, and non-B/non-C hepatocellular carcinoma. A novel homozygous mutation NM_000045.2 (ARG1):c.673del (p.Arg225GlyfsX5) was detected. We suggest that all children presenting with progressive neurodegeneration or spastic paraplegia in the absence of risk factors for cerebral palsy should be screened for inborn errors of metabolism, including arginase deficiency. For monitoring urea cycle defects, noninvasive imaging screening for liver fibrosis and hepatocellular carcinoma can help ensure early detection, with potential treatment implications.
在没有扩展新生儿筛查的地区，精氨酰琥珀酸酶缺乏症患者通常不是在新生儿期出现，而是在儿童早期出现痉挛性截瘫。由于这种罕见的神经代谢疾病在初始阶段常被误诊为脑瘫，因此诊断存在一定的挑战。我们描述了一位 20 岁女性痉挛性截瘫、进行性肌张力障碍、痴呆、周围神经病、癫痫、肝硬化和非 B/非 C 型肝细胞癌患者的精氨酰琥珀酸酶缺乏症。检测到一个新的纯合突变 NM_000045.2 (ARG1):c.673del (p.Arg225GlyfsX5)。我们建议，所有在没有脑瘫危险因素的情况下出现进行性神经退行性变或痉挛性截瘫的儿童都应进行代谢性疾病的筛查，包括精氨酰琥珀酸酶缺乏症。为了监测尿素循环缺陷，非侵入性成像筛查肝纤维化和肝细胞癌有助于早期发现，并可能具有治疗意义。
