{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T11:56:29Z","timestamp":1790942189446,"version":"4.1.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Childs Nerv Syst"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>MPDZ syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in MPDZ (9p23) and typically managed with ventriculoperitoneal shunting (VPS). Recent characterization of MPDZ-related hydrocephalus as an obstructive process\u2014driven by diencephalosynapsis and third ventricle atresia\u2014provides theoretical grounds for endoscopic third ventriculostomy (ETV), yet no primary ETV treatment has previously been reported in a genetically confirmed, liveborn patient.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report a female infant with prenatally diagnosed obstructive ventriculomegaly, subsequently confirmed as MPDZ syndrome by whole-exome sequencing, who was treated with ETV as the primary surgical intervention, and we review the literature on the neurosurgical management of MPDZ-related hydrocephalus.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fetal MRI demonstrated diencephalosynapsis and third ventricle atresia with secondary occlusion of the aqueduct of Sylvius. A ventriculo-amniotic shunt was placed at 29\u00a0weeks of gestation; the infant was born at 36\u00a0weeks and 1\u00a0day and underwent ETV on the fifth day of life without complications. At 2\u00a0years and 5\u00a0months of age, she developed intermittent symptoms of intracranial hypertension due to late stoma occlusion at the level of the Liliequist membrane, successfully managed with endoscopic stoma revision. At the most recent follow-up (4\u00a0years and 5\u00a0months), she remains free of ventriculoperitoneal shunting, with age-appropriate neurodevelopment. A systematic review of the literature identified no prior report of ETV used as primary treatment in a genetically confirmed, liveborn patient with MPDZ syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case provides proof of concept that ETV is both mechanistically justified and clinically effective in selected patients with MPDZ-related obstructive hydrocephalus, potentially avoiding lifelong shunt dependency. Patient selection should nonetheless remain individualized, based on ventricular anatomy, third ventricular floor thickness, and associated structural anomalies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00381-026-07483-7","type":"journal-article","created":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T11:25:43Z","timestamp":1790940343000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Endoscopic third ventriculostomy for diencephalosynapsis-related hydrocephalus in MPDZ gene syndrome: a case report and review of the literature"],"prefix":"10.1007","volume":"42","author":[{"given":"Sergio","family":"Cavalheiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos Devanir Silva","family":"da Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando Seiji","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia Alessandra","family":"Dastoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego Pereira","family":"de Melo Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio Ester G\u00f3mez","family":"Verges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela Cavalieri","family":"de Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Rodrigues","family":"Martino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"key":"7483_CR1","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1136\/jmedgenet-2012-101294","volume":"50","author":"MS Al-Dosari","year":"2013","unstructured":"Al-Dosari MS, Al-Owain M, Tulbah M et al (2013) Mutation in MPDZ causes severe congenital hydrocephalus. 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