The 81st case:a 58 years old male patient presented with later motor milestone, frequent falling for 55 years, weakness of lower limbs for 13 years, upper limbs weakness for 3 years
10.3760/cma.j.issn.1006-7876.2018.11.008
- VernacularTitle:第81例——老年男性,运动能力差、易跌倒55年,双下肢无力13年伴双上肢无力三年
- Author:
Ying LI
1
;
Penju LIU
;
Liqun FENG
;
Wei ZHANG
;
Zhaoxia WANG
;
Yun YUAN
Author Information
1. 100029,首都医科大学附属北京安贞医院神经内科
- Keywords:
Glycogen storage disease;
Biopsy;
Genetic testing;
Pathology,clinical
- From:
Chinese Journal of Neurology
2018;51(11):897-900
- CountryChina
- Language:Chinese
-
Abstract:
A 58-year-old man who presented with progressive proximal weakness and elevated serum creatine kinase levels was found to have typeⅢa glycogen storage disease. Except for a history of later motor milestone in childhood, he was healthy and lived a normal life. There was no hypoglycemia, hepatomegaly or growth retardation. Muscle weakness was not apparent until the fourth decade. Scoliosis and mild hypertrophy of cardiac ventricular septum were detected. Muscle biopsy was performed which revealed amount of glycogen depositing. A novel homogenous splicing mutation was found in AGL gene.
