Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

被引：79

作者：

Briggs, T. A. ^{[2
]}

Abdel-Salam, G. M. H. ^{[3
]}

Balicki, M. ^{[4
]}

Baxter, P. ^{[5
]}

Bertini, E. ^{[6
]}

Bishop, N. ^{[7
]}

Browne, B. H. ^{[8
]}

Chitayat, D. ^{[4
]}

Chong, W. K. ^{[9
]}

Eid, M. M. ^{[10
]}

Halliday, W. ^{[11
]}

Hughes, I. ^{[12
]}

Klusmann-Koy, A. ^{[13
,14
]}

Kurian, M. ^{[15
]}

Nischal, K. K. ^{[16
,17
]}

Rice, G. L. ^{[1
]}

Stephenson, J. B. P. ^{[18
]}

Surtees, R. ^{[13
]}

Talbot, J. F. ^{[19
]}

Tehrani, N. N. ^{[20
]}

Tolmie, J. L. ^{[21
]}

Toomes, C. ^{[1
]}

van der Knaap, M. S. ^{[22
]}

Crow, Y. J. ^{[1
,23
]}

机构：

[1] St James Univ Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England

[2] St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds LS9 7TF, W Yorkshire, England

[3] Natl Res Ctr, Human Genet & Genome Res Unit, Dept Clin Genet, Cairo, Egypt

[4] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[5] Sheffield Childrens Hosp, Dept Paediat Neurol, Sheffield, S Yorkshire, England

[6] Bambino Gesu Pediat Hosp, Mol Med Unit, Rome, Italy

[7] Sheffield Childrens Hosp, Dept Paediat Bone Dis, Sheffield, S Yorkshire, England

[8] Royal Infirm, Dept Ophthalmol, Glasgow G31 2ER, Lanark, Scotland

[9] Great Ormond St Hosp Sick Children, Dept Radiol, London WC1N 3JH, England

[10] Natl Res Ctr, Human Genet & Genome Res Unit, Human Cytogenet Dept, Cairo, Egypt

[11] Univ Toronto, Hosp Sick Children, Div Pathol, Dept Pediat Lab Med, Toronto, ON M5G 1X8, Canada

[12] Royal Manchester Childrens Hosp, Dept Paediat Neurol, Manchester M27 1HA, Lancs, England

[13] Great Ormond St Hosp Sick Children, Dept Paediat Neurol, London WC1N 3JH, England

[14] Univ Hosp Dusseldorf, Dept Gen Paediat, Dusseldorf, Germany

[15] Montagu Hosp, Dept Paediat, Mexborough, England

[16] Great Ormond St Hosp Sick Children, Dept Clin & Acad Ophthalmol, London WC1N 3JH, England

[17] Inst Child Hlth, London, England

[18] Royal Hosp Sick Children, Fraser Allander Neurosci Unit, Glasgow G3 8SJ, Lanark, Scotland

[19] Royal Hallamshire Hosp, Dept Ophthalmol, Sheffield S10 2JF, S Yorkshire, England

[20] Univ Toronto, Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada

[21] Royal Hosp Sick Children, Duncan Guthrie Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland

[22] Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, Amsterdam, Netherlands

[23] Bradford NHS Trust, Dept Paediat, Bradford, W Yorkshire, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 02期

关键词：

intracranial calcification; leukodystrophy; intraccrebral cysts; leukoencephalopathy with calcifications and cysts; exudative retinopathy; Coats; Labrune;

D O I：

10.1002/ajmg.a.32080

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：182 / 190

页数：9

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