Coats Plus : la version systémique de la maladie de Coats

Coats Plus Syndrome and Mutation of the TERT Gene: A Case Report

“…The ophthalmologic lesions described were similar to Coats disease, an idiopathic disorder characterized by an abnormal development of retinal vessels (telangiectasia) with progressive exudation leading potentially to exudative retinal detachment, although they were bilateral. The ophthalmic involvement is bilateral in CPS while only 25% 5,6 to 62% 7 of cases of classical Coats disease show a bilateral involvement. Another difference is that in CPS, a systemic involvement is associated, unlike in Coats disease.…”

“…Regarding ophthalmological treatment, exudations are usually treated with photocoagulation of the telangiectasia vessels responsible for the exudation 5,6 . In our case, photocoagulation was not an option given the central location of the telangiectasia dilation responsible for edema.…”

Intracerebral Calcifications Associated with Failure to Thrive and Macular Degeneration in an Adolescent: A Case Report

“…4,5 On the other hand, other cases associate intracerebral calcification with systemic disorders and diseases of various kinds. These include systemic lupus erythematosus, 6 Aicardi-Goutières syndrome (elevated interferon alpha and lymphocytosis in the cerebrospinal fluid (CSF)), 7 Coats plus syndrome 8 (cerebroretinal microangiopathy with cysts) and pseudo-TORCH syndrome (microcephaly, convulsion and profound mental retardation). 9 A particular calcinosis (Fahr's disease) is characterized by the predominance of extrapyramidal manifestations with major movement disorders.…”

Coats Plus Syndrome

“…These systemic disorders include intrauterine growth retardation, developmental delay, and multiple visceral disorders including cerebral calcifications and cysts with leukodystrophy, myelodysplasia, portal hypertension, repeated bleeds in the gastrointestinal tract, skeletal anomalies, and anomalies of the integuments. 1,2 Given the infrequency of this syndrome, standardized management has not yet been established for Coats plus syndrome. Current ophthalmic treatments eliminate or reduce symptoms by using laser photocoagulations on the retinal ischemic zones adjacent to the neovessels.…”

“…Furthermore, patients with Coats plus typically have other associated systemic disorders that are absent in Coats. These systemic disorders include intrauterine growth retardation, developmental delay, and multiple visceral disorders including cerebral calcifications and cysts with leukodystrophy, myelodysplasia, portal hypertension, repeated bleeds in the gastrointestinal tract, skeletal anomalies, and anomalies of the integuments . Given the infrequency of this syndrome, standardized management has not yet been established for Coats plus syndrome.…”