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4-Year-Old Female, Retinal Detachment
This case features a 4-year-old female presenting with retinal detachment, ultimately diagnosed with Coats plus syndrome, also known as cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
Imaging overview:
Axial SWI, axial T1 pre-contrast, and axial T2 fat-saturated MRI of the brain demonstrate intracranial calcifications on SWI, retinal telangiectasias with exudates on T1, and parenchymal cysts with leukoencephalopathy on T2 fat-saturated imaging, forming the characteristic triad of this syndrome.
Clinical insight:
Coats plus syndrome (CRMCC) is a rare autosomal recessive disorder caused by mutations in the CTC1 and STN1 genes, resulting in cerebroretinal microangiopathy. The defining imaging triad consists of intracranial calcifications, parenchymal cysts, and leukoencephalopathy. Beyond the CNS and retina, patients may also exhibit skeletal abnormalities, gastrointestinal bleeding, and portal hypertension. Recognizing this constellation of imaging findings in a child with retinal disease is critical to prompting genetic testing and guiding multidisciplinary management.
Case courtesy of Remy Lobo, MD,
University of Michigan, University of Utah.