Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-01, Vol.146A (2), p.182-190
Main Authors: Briggs, T.A., Abdel-Salam, G.M.H., 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.
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Calcinosis - diagnosis
Cerebrovascular Disorders - diagnosis
Child
Child, Preschool
Coats
Cysts - diagnosis
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
exudative retinopathy
Female
Humans
Infant
intracerebral cysts
intracranial calcification
Labrune
leukodystrophy
leukoencephalopathy with calcifications and cysts
Male
Medical genetics
Medical sciences
Neurology
Ophthalmology
Phenotype
Retinal Diseases - diagnosis
Retinopathies
Telangiectasis - pathology
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Summary: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. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32080