{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:29:52Z","timestamp":1790832592802,"version":"4.1.0"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,1,11]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine. The patient was started on valganciclovir for 6\u2009months, and despite the significant cerebellar hypoplasia, the clinical course was benign, with normal respiratory and feeding functions. Physical examination showed microcephaly, hypotonia and partial bilateral hearing loss. Follow-up showed persistent hypotonia but normal developmental progression otherwise. This case is notable for isolated cerebellar hypoplasia without other common cCMV-related radiological abnormalities, highlighting the need for further exploration into the atypical presentations of cCMV.<\/jats:p>","DOI":"10.1136\/bcr-2024-263666","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T23:45:43Z","timestamp":1737503143000},"page":"e263666","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Isolated, severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus infection in a late preterm neonate"],"prefix":"10.1136","volume":"18","author":[{"given":"Harshita","family":"Kandarpa","sequence":"first","affiliation":[{"name":"Neurology, Division of Child Neurology, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayuri","family":"Reddy","sequence":"additional","affiliation":[{"name":"Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garrett","family":"Gianneschi","sequence":"additional","affiliation":[{"name":"Neurology, Division of Child Neurology, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onajovwe","family":"Fofah","sequence":"additional","affiliation":[{"name":"Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,1,21]]},"reference":[{"key":"2025082703020393000_18.1.e263666.1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-815833"},{"key":"2025082703020393000_18.1.e263666.2","first-page":"229","article-title":"Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection","volume":"35 Suppl 1","author":"Bosnjak","year":"2011","journal-title":"Coll Antropol"},{"key":"2025082703020393000_18.1.e263666.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-011-2120-5"},{"key":"2025082703020393000_18.1.e263666.4","first-page":"703","article-title":"Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations","volume":"15","author":"Barkovich","year":"1994","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025082703020393000_18.1.e263666.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2017.04.026"},{"key":"2025082703020393000_18.1.e263666.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-0691.2011.03564.x"},{"key":"2025082703020393000_18.1.e263666.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.04.001"},{"key":"2025082703020393000_18.1.e263666.8","doi-asserted-by":"publisher","DOI":"10.1111\/ajo.12408"},{"key":"2025082703020393000_18.1.e263666.9","article-title":"Severe Cytomegalovirus Congenital Infection With Neurological Compromise a Case Series Study in Mexico: Severe CMV and Neurological Compromise","volume":"2024","author":"Flores-Medina","year":"2024","journal-title":"Case Rep Infect Dis"},{"key":"2025082703020393000_18.1.e263666.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1404599"},{"key":"2025082703020393000_18.1.e263666.11","first-page":"3","article-title":"Newborn Screening for Congenital Cytomegalovirus (cCMV) Infection: Universal, Targeted, Expanded-Targeted, or None-of-the-Above?","volume":"19","author":"Schleiss","year":"2024","journal-title":"Neonatol Today"},{"key":"2025082703020393000_18.1.e263666.12","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1017\/cjn.2021.199","article-title":"Two Curious Cases of Complete Cerebellar Agenesis","volume":"49","author":"Leck","year":"2022","journal-title":"Can J Neurol Sci"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-263666","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:02:16Z","timestamp":1756288936000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-263666"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,21]]},"published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1136\/bcr-2024-263666"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-263666","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}