ExcerptBackground: Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific. Case Presentation: Here, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration. Conclusion Raised: CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.
File Download: 2012 Tonduti
Publish Date: 29 August 2012