[P1-158] Clinical and genetic analysis of progressive cavitating leukoencephalopathy
[Objective]To analyze clinical and genetic features of progressive cavitating leukoencephalopathy. [Method] We analyzed the clinical and genetic features of 4 PCL patients diagnosed by Beijing children’s hospital between January 2015 and January 2016. The related literature was searched form China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed (up to December 2016) by using search terms " NDUFV1, NDUFS1, leukoencephalopathy ", and summarized the cases of complete clinical data. [Results] There are three females and one male, two of which are compatriots. The age of onset ranged from 6 months to 15 months. All four children were onset with motor development regression, which development normal before. Of the 4 patients, 3 had cognitive impairment, 1 had seizures, 4 had dystonia and pyramidal impairment，2 had emaciation，1 had nystagmus. The lactate concentrations of 4 patients were normal. One patient had actaciduria in the urinary organic acid analysis. Cranial MRI of all patients showed leukoencephalopathy, involved the corpus callosum, and three accompanied cystic lesions. Follow up to 1y10m~13y，the movement and language development were improved. Genetic analysis revealed mutations in NDUFS1 in three patients and in NDUFV1 in one patient. All six mutations（R377C，R377H，R518fs，T368P，Y454X，D565G） are novel. Five English case reports which including 10 PCL patients were collected, and all were onset with motor development regression, which development normal before. The clinical manifestation includes cognitive impairment, dystonia, irritable, epilepsy, nystagmus, strabismus, swallowing difficulty, and pyramidal damage. Cranial MRI showed patchy leukoencephalopathy with cavities, involved the corpus callosum. Follow up to 1y7m~15y，the neurology development were improved slowly. [Conclusions] Progressive cavitating leukoencephalopathy is a rare genetic metabolic disease. We can complete NDUFS1 and NDUFV1 gene mutation screening first if a case meet the clinical and neuroradiology features of PCL.