Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
| Autor: | Enrico Bertini, Carmel Toomes, Ken K. Nischal, Maha M. Eid, Imelda Hughes, John Tolmie, Yanick J. Crow, J.F. Talbot, William Halliday, A. Klusmann‐Koy, M.S. van der Knaap, B H Browne, Manju A. Kurian, Robert Surtees, Martha Balicki, David Chitayat, Nick Bishop, Gillian I. Rice, N.N. Tehrani, Ghada M H Abdel-Salam, W.K. Chong, Peter Baxter, J. B P Stephenson, Tracy A Briggs |
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| Přispěvatelé: | Other departments, Pediatric surgery, Neuroscience Campus Amsterdam 2008 |
| Rok vydání: | 2008 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Leukoencephalopathy Retinal Diseases SDG 3 - Good Health and Well-being Calcinosis Genetics medicine Humans Cyst Telangiectasis Child Genetics (clinical) Cysts business.industry Leukodystrophy Microangiopathy Infant medicine.disease Cerebrovascular Disorders Retinal telangiectasia Phenotype Child Preschool Female Cerebroretinal microangiopathy with calcifications and cysts business Calcification |
| Zdroj: | Briggs, T A, Abdel-Salam, G, Balicki, M, Baxter, P, Bertini, E, Bishop, N, Browne, B H, Chitayat, D, Chong, W K, Eid, M M, Halliday, W, Hughes, I, Klusmann-Koy, A, Kurian, M, Nischal, K K, Rice, G I, Stephenson, J B P, Surtees, R, Talbot, J F, Tehrani, N N, Tolmie, J L, Toomes, C, van der Knaap, M S & Crow, Y J 2008, ' Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) ', American Journal of Medical Genetics Part A, vol. 146A, no. 2, pp. 182-190 . https://doi.org/10.1002/ajmg.a.32080 American journal of medical genetics. Part A, 146A(2), 182-190. Wiley-Liss Inc. American Journal of Medical Genetics Part A, 146A(2), 182-190. Wiley-Liss Inc. |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.32080 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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