Neutral lipid storage disease with distal weakness: report of one family
10.3760/cma.j.issn.1006-7876.2018.06.005
- VernacularTitle:远端肌无力中性脂质沉积症一家系报告
- Author:
Zhe ZHAO
1
;
Hongrui SHEN
;
Qi BING
;
Nan LI
;
Xuan GUO
;
Jing HU
Author Information
1. 河北医科大学第三医院神经肌病科
- Keywords:
Muscular diseases;
Lipidoses;
Muscle weakness;
Heredity;
Next generation sequencing
- From:
Chinese Journal of Neurology
2018;51(6):425-429
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report the clinical and pathological features of one family with neutral lipid storage disease with distal weakness and review the literature , explore the diagnosis and differential diagnosis of the disease , and improve the understanding of the disease .Methods Clinical data of two patients of a family were collected , and next generation sequencing was performed after electrophysiological examination and pathological analysis of skeletal muscle biopsy .And related literature was reviewed .Results Two patients had similar presentations , both having symptoms after 30 years old.The main manifestations were weakness and atrophy of the distal limbs .The creatine kinase levels were increased ( 1067, 740 U/L) .Electromyography revealed myogenic lesions .Pathological analysis of skeletal muscle biopsy showed a large amount of lipid droplets deposition in most muscle fibers .Next generation sequencing revealed a homozygous splice mutation in PNPLA2 gene ( C.187 +1G >A) .Conclusions The two patients with neutral lipid storage disease with myopathy involve distal limbs , which should be distinguished with distal myopathy.The presence of large amounts of lipid droplets in the cytoplasm of muscle fibers can be used for the diagnosis of lipid storage myopathy .The next generation sequencing is helpful for the typing diagnosis of lipid deposition disease .
