ICNC Abstracts, ICNC 2018

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Clinical and genetic analysis of progressive cavitating leukoencephalopathy in China
Ren Changhong, Fang Fang, Zhimei Liu

Last modified: 2018-09-09


Objective: To analyze clinical and genetic features of progressive cavitating leukoencephalopathy in China. Methods: Analyzed the clinical and genetic features of 8 PCL patients, including 6 patients diagnosed by Beijing Children’s hospital between January 2015 and January 2018 and 2 Chinese patient reported in literature. Results: There are 4 females and 4 males, 6 of which are compatriots. The age of onset ranged from 4 months to 15 months. All 8 children were onset with motor development regression. Of the 8 patients, 8 had dystonia and pyramidal impairment,5 had cognitive impairment and emaciation, 2 had strabismus and swallowing difficulty,1 had seizures、irritable and nystagmus. The lactate concentrations of 8 patients were normal. Cranial MRI of all patients showed leukoencephalopathy cystic lesions, involved the corpus callosum. Follow up to 2~13 years,the physical and language development were improved. Genetic analysis revealed mutations in NDUFV2, NDUFS1 and NDUFV1. All nine mutations( p.Ala183Thr,p.Leu156His,p.Cys135Ser in NDUFV2; p.Arg377Cys and p.Arg377His in NDUFV1; p. Arg518fs,p.Thr368Pro,p.Tyr454X and p.Asp565Gly in NDUFS1)are novel. The COXI activities of two cases of p.Ala183Thr homozygous mutations in NDUFV2 measured of skin fibroblasts were all reduced (29.4%, 18.1% respectively), and the oxygen consumption rates were all lower than normal control. It is suggested that the gene mutation is a pathogenic mutation. Conclusions: PCL is a rare metabolic disease. As a patient has the same clinical and imaging features, to complete genetic testing can help to confirm the diagnosis.


Progressive cavitating leukoencephalopathy;NDUFS1;NUUFV1;NDUFV2

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