Cerebroretinal microangiopathy with calcifications and cysts

Common Name(s)

Cerebroretinal microangiopathy with calcifications and cysts

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by {1:Anderson et al., 2012} and {8:Polvi et al., 2012}). Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome ({614561}), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic ({1:Anderson et al., 2012}; {8:Polvi et al., 2012}). Some features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., {127550}), which is a clinically and genetically heterogeneous telomere-related genetic disorder. Genetic Heterogeneity of Cerebroretinal Microangiopathy With Calcifications And Cysts See also CRMCC2 ({617341}), caused by mutation in the STN1 gene ({613128}) on chromosome 10q24.
 

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Scientific Literature

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