Related resources
Full-text held externally
- DOI: 10.1002/ajmg.a.32080
Search for item elsewhere
University researcher(s)
Academic department(s)
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
Briggs, T, Abdel-Salam, G, Balicki, M, Baxter, P, Bertini, E, Bishop, N, Browne, B, Chitayat, D, Chong, W, Eid, M, Halliday, W, Hughes, I, Klusmann-Koy, A, Kurian, M, Nischal, K, Rice, G, Stephenson, J, Surtees, R, Talbot, J, Tehrani, N, Tolmie, J, Toomes, C, van der Knaap, M, Crow, YJ
Am J Med Genet A. 2008;146A( 2):182-90.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- DOI: 10.1002/ajmg.a.32080
Abstract
Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the "cerebroretinal microangiopathy with calcification and cysts" (CRMCC) phenotype. (c) 2007 Wiley-Liss, Inc.
Keyword(s)
Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Phenotype; diagnosis: Calcinosis; diagnosis: Cerebrovascular Disorders; diagnosis: Cysts; diagnosis: Retinal Diseases; pathology: Telangiectasis