{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T08:44:13Z","timestamp":1778575453174,"version":"3.51.4"},"reference-count":6,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,12,14]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    An early adolescent male from a consanguineous family presented with progressive neurological deterioration, including developmental delay, seizures, left hemiparesis and cognitive decline from early childhood. He subsequently developed gastrointestinal bleeding, chronic liver disease with oesophageal varices, severe anaemia and thrombocytopenia. Initial investigations suggested TORCH (Toxoplasmosis, Other, Rubella, Cytomegalovirus, Herpes simplex) infection due to intracranial calcifications and multisystem involvement. However, detailed neuroimaging revealed extensive periventricular calcifications, white matter abnormalities and cysts characteristic of cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC). Notably, ophthalmological examination was normal, lacking the typical retinal findings. Exome sequencing identified a homozygous pathogenic variant c.775G&gt;A\u2009p.(Val259Met) in the\n                    <jats:italic>CTC1<\/jats:italic>\n                    gene, confirming CRMCC. The patient died in their late adolescence from respiratory failure and sepsis. This case highlights the phenotypic variability of\n                    <jats:italic>CTC1<\/jats:italic>\n                    mutations and emphasises the consideration of CRMCC in patients with intracranial calcifications and multisystem disease, even in the absence of retinal involvement.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-268129","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T16:20:13Z","timestamp":1768839613000},"page":"e268129","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["<i>CTC1<\/i>\n                    mutation causing cerebro-retinal microangiopathy with calcifications and cysts type 1, masquerading as TORCH Infection"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"first","affiliation":[{"name":"Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, KA, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varunvenkat M","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, KA, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Himani Reddy","family":"Pandey","sequence":"additional","affiliation":[{"name":"Indira Gandhi Institute of Child Health, Bengaluru, KA, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viveka Santhosh Reddy","family":"Challa","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, KA, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"2026011908200715000_19.1.e268129.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.002"},{"key":"2026011908200715000_19.1.e268129.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1084"},{"key":"2026011908200715000_19.1.e268129.3","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1111\/acel.12139","article-title":"Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus","volume":"12","author":"Gu","year":"2013","journal-title":"Aging Cell"},{"key":"2026011908200715000_19.1.e268129.4","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1212\/01.wnl.0000236999.63933.b0","article-title":"Cerebroretinal microangiopathy with calcifications and cysts","volume":"67","author":"Linnankivi","year":"2006","journal-title":"Neurology (ECronicon)"},{"key":"2026011908200715000_19.1.e268129.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32080"},{"key":"2026011908200715000_19.1.e268129.6","doi-asserted-by":"publisher","DOI":"10.1101\/gad.222893.113"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-268129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T16:20:15Z","timestamp":1768839615000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-268129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,19]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-268129"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-268129","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}