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Updated: Jan 21, 2026
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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
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CTC1 mutation causing cerebro-retinal microangiopathy with calcifications and cysts type 1, masquerading as TORCH
Vykuntaraju K Gowda1, Varunvenkat M Srinivasan2, Himani Reddy Pandey3
1Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, KA, India drknvraju08@gmail.com.
BMJ Case Reports
|January 19, 2026
Summary
This case study details a rare genetic disorder, cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC), in an adolescent male. It highlights the importance of considering CRMCC in multisystem disease, even without typical eye findings.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC) is a rare genetic disorder.
- Patients typically present with neurological deterioration and characteristic retinal findings.
Purpose of the Study:
- To report a case of CRMCC with atypical presentation.
- To emphasize the phenotypic variability of CTC1 gene mutations.
Main Methods:
- Detailed neuroimaging including MRI.
- Exome sequencing to identify genetic variants.
- Clinical and ophthalmological examination.
Main Results:
- The patient exhibited progressive neurological decline, seizures, cognitive impairment, and multisystemic involvement including liver disease and bleeding.
- Neuroimaging revealed periventricular calcifications and white matter abnormalities, characteristic of CRMCC.
- Exome sequencing identified a homozygous pathogenic variant in the CTC1 gene, confirming the diagnosis despite normal ophthalmological findings.
Conclusions:
- This case underscores the significant phenotypic variability associated with CTC1 mutations.
- CRMCC should be considered in the differential diagnosis of intracranial calcifications and multisystem disease, even when retinal manifestations are absent.
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