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Updated: Jan 21, 2026

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation

Published on: May 31, 2016

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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
PubMed

Insights

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.

Keywords:
Developmental paediatrocsNeuroimagingPediatricsRadiologyRehabilitation medicine

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