{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T15:08:15Z","timestamp":1740150495048,"version":"3.37.3"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"BCCH\u2019s Department of Pathology and Laboratory Medicine Seed Grant Competition"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Holoprosencephaly (HPE) is a classic brain malformation involving defective forebrain induction and patterning. Cases of HPE bearing white matter abnormalities have not been well documented, with only rare cases exhibiting hypoxic-ischemic damage. However, neuroradiologic studies of HPE using diffusion tensor imaging have suggested the presence of white matter architectural disarray. Described in this case series are the clinicopathologic features of 8 fetuses with HPE who underwent autopsy at BC Children\u2019s Hospital. All 8 cases exhibited subacute to chronic, periventricular leukomalacia (PVL)-like white matter pathology, with 7 of 8 cases also demonstrating aberrant white matter tracts, one of which manifested as a discreet bundle crossing the midline within the ventral aspects of the fused deep gray nuclei. In 6 of these 7 cases, the PVL-like pathology resided within this aberrant white matter tract. Original workup, alongside an additional HPE-focused next-generation sequencing panel identified a likely etiologic cause for the HPE in 4 cases, with an additional 2 cases exhibiting a variant of unknown significance in genes previously suggested to be involved in HPE. Despite our in-depth clinicopathologic and molecular review, no unifying etiology was definitively identified among our series of fetal HPE bearing this unusual pattern of white matter pathology.<\/jats:p>","DOI":"10.1093\/jnen\/nlae070","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T21:25:15Z","timestamp":1720560315000},"page":"722-735","source":"Crossref","is-referenced-by-count":0,"title":["Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series"],"prefix":"10.1093","volume":"83","author":[{"given":"Sumit","family":"Das","sequence":"first","affiliation":[{"name":"Department of Pathology and Lab Medicine, University of Alberta and Stollery Children\u2019s Hospital , Edmonton, AB, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Division of Genome Diagnostics, BC Children\u2019s Hospital , Vancouver, BC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah M","family":"Nikkel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Provincial Medical Genetics Program, BC Women\u2019s Hospital , Vancouver, BC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Saunders","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Division of Anatomic Pathology, BC Children\u2019s Hospital , Vancouver, BC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6244-0584","authenticated-orcid":false,"given":"Christopher","family":"Dunham","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Division of Anatomic Pathology, BC Children\u2019s Hospital , Vancouver, BC, 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