An adult case with cerebellar lesion due to methylmalonic academia combined with hyperhomocysteinemia
10.3760/cma.j.issn.1006-7876.2020.03.009
- VernacularTitle:以小脑损害为主要表现的成人甲基丙二酸血症合并高同型半胱氨酸血症一例
- Author:
Yunchuang SUN
1
;
Ling CONG
;
Fan LI
;
Luhua WEI
;
Wei SUN
;
Yanling YANG
;
Zhaoxia WANG
Author Information
1. 北京大学第一医院神经内科 100034
- From:
Chinese Journal of Neurology
2020;53(3):210-212
- CountryChina
- Language:Chinese
-
Abstract:
An adult man of methylmalonic acidemia combined with hyperhomocysteinemia is reported. He presented with progressive walking instability with mental and behavioral alterations when aged 24 years. Physical examination showed significant cerebellar ataxia and pyramidal signs. Brain magnetic resonance imaging revealed symmetric lesions of bilateral cerebellum. His plasma total homocysteine and urine methylmalonic acid were significantly elevated. Compound heterozygous mutations, c.482G>A and c.217C>T, were found in his MMACHC gene, confirming the diagnosis of cblC deficiency. Improved clinical manifestations and decreased plasma total homocysteine were observed one month after treatment.
