Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA.

ABSTRACT: Introduction: Werner syndrome is a rare genetic disorder; classical Werner syndrome is caused by mutations in the WRN gene. However, recent research has shown that LMNA gene mutations can also cause premature ageing syndromes such as atypical Werner syndrome (AWS). AWS usually manifests as muscular damage, defects in the cardiac conduction system, lipoatrophy, diabetes, atherosclerosis, and premature ageing. Clinical presentation: A 24-year-old man presented with severe abdominal aortic and peripheral artery disease and cerebral haemorrhage. He was prescribed once-daily 20 mg atorvastatin. Another large cerebral haemorrhage occurred 8 months after discharge. Although he underwent minimally invasive intracranial haematoma surgery, paralysis set in. Molecular stud

SUBMITTER: Yanhua X 

PROVIDER: S-EPMC6085819 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature