CTC1 Cerebroretinal Microangiopathy with Calcifications and Cysts, Misdiagnosed as Congenital TORCH Infection

Key finding

Detailed neuroimaging showed extensive periventricular calcifications, white matter abnormalities and cysts — the imaging triad of cerebroretinal microangiopathy with calcifications and cysts (CRMCC, also called Coats plus). Exome sequencing identified a homozygous pathogenic variant c.775G>A p.(Val259Met) in CTC1. And the detail that makes this case a framework case: ophthalmological examination was normal. The retinal telangiectasia and exudation (Coats disease) that give the syndrome half its name were absent. He died in late adolescence from respiratory failure and sepsis.

Framework connections: The Missing Mechanics (EPCs), Mitochondrial Haplotype

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