Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC): A 5-Year Diagnostic Challenge

Background and Clinical Significance: CTC1-related cerebroretinal microangiopathy with calcifications and cysts (CRMCC), or Coats-plus syndrome, is an extremely rare autosomal recessive telomere-dysfunction disorder. A total of 29 cases in 15 reports have been reported in the English literature. The primary imaging characteristics include leukoencephalopathy, intracranial calcifications, and parenchymal cysts. Case Presentation: We describe a patient with CRMCC, who presented with a large intracranial cystic mass and basal ganglia calcifications, with imaging findings strongly mimicking a primary CNS tumor. The patient underwent multiple surgeries with inconclusive biopsies. Ultimately, it took five years and the collaboration of several specialists to arrive at the final diagnosis. Furthermore, we present dedicated clinical 7T orbit MRI findings on the patient’s brother, who has the same disease. Conclusions: We present a rare case of CRMCC with lack of overt leukoencephalopathy at presentation and absence of characteristic extracranial/extraocular manifestations, significantly complicating diagnosis. Furthermore, to the best of our knowledge, we share the first reported clinical 7T orbital MRI in the pediatric population.