{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T01:09:46Z","timestamp":1788916186659,"version":"build-2803163510"},"reference-count":44,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,1]]},"abstract":"\n OBJECTIVE<\/jats:title>\n Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume. The authors report a series of 6 patients with ALGS with craniosynostosis and discuss their neurosurgical management.<\/jats:p>\n <\/jats:sec>\n \n METHODS<\/jats:title>\n \n The authors included all patients with ALGS and craniosynostosis assessed in their national reference center between 2012 and 2024. They collected the following parameters: date of birth; sex;\n JAG1<\/jats:italic>\n mutation; hepatobiliary, cardiac, vascular, skeletal and ocular symptoms; type of craniosynostosis; presence of papilledema; head circumference; type of surgery (if needed); and clinical outcome.\n <\/jats:p>\n <\/jats:sec>\n \n RESULTS<\/jats:title>\n The 6 patients had a median age of 6 years at referral (range 15 months\u20136 years). Four patients presented with a history of ICH and papilledema. Craniofacial CT scans showed the fusion of all sutures (coronal, sagittal, and lambdoid) in 2 patients; bicoronal plus bilambdoid synostosis in 1 patient; and sagittal plus bilambdoid synostosis 1 patient. All patients required biparietal floating craniotomies, leading to prompt improvement of papilledema. Two patients without a history of ICH presented with single-suture synostosis without papilledema (anterior plagiocephaly and scaphocephaly).<\/jats:p>\n <\/jats:sec>\n \n CONCLUSIONS<\/jats:title>\n The authors report single-suture and multisuture craniosynostosis associated with ALGS and its association with chronic ICH. They suggest systematic screening for craniosynostosis in patients with ALGS and papilledema to avoid unrecognized chronic ICH.<\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/2024.10.focus24588","type":"journal-article","created":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T01:12:53Z","timestamp":1735693973000},"page":"E6","source":"Crossref","is-referenced-by-count":2,"title":["Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients"],"prefix":"10.3171","volume":"58","author":[{"given":"Lelio","family":"Guida","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurosurgery, H\u00f4pital Necker - Enfants Malades, Assistance Publique\u2014H\u00f4pitaux de Paris;"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Cit\u00e9, Paris;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Gardin","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syril","family":"James","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery, H\u00f4pital Necker - Enfants Malades, Assistance Publique\u2014H\u00f4pitaux de Paris;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Arnaud","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial Surgery and Plastic Surgery, H\u00f4pital Necker - Enfants Malades, Assistance Publique\u2014H\u00f4pitaux de Paris;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Toujouse","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Neurology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Roux","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Neurology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Barreau","sequence":"additional","affiliation":[{"name":"Ophthalmology, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Benali Abdallah","sequence":"additional","affiliation":[{"name":"Ophthalmology, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Almes","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Sartori","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery, H\u00f4pital Necker - Enfants Malades, Assistance Publique\u2014H\u00f4pitaux de Paris;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantina","family":"Kavoura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery, H\u00f4pital Necker - Enfants Malades, Assistance Publique\u2014H\u00f4pitaux de Paris;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oanez","family":"Ackermann","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Gonzales","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Jacquemin","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman Hossein","family":"Khonsari","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Cit\u00e9, Paris;"},{"name":"Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bic\u00eatre Hospital, Assistance Publique\u2014H\u00f4pitaux de Paris, Paris-Saclay University, Le Kremlin-Bic\u00eatre;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Paternoster","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery, H\u00f4pital Necker - 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J Pediatr Gastroenterol Nutr. 2020;71(5):655\u2013662."},{"issue":"8","key":"b15","series-title":"J Child Neurol","first-page":"1006","article-title":"Idiopathic intracranial hypertension in two patients with Alagille syndrome","volume":"25","author":"Mouzaki M","year":"2010","unstructured":"Mouzaki M, Nichter C, Qureshi M, Rountree B, Furuya KN. Idiopathic intracranial hypertension in two patients with Alagille syndrome. J Child Neurol. 2010;25(8):1006\u20131008."},{"issue":"1","key":"b16","series-title":"Genes Dis","first-page":"8","article-title":"Notch signaling: its essential roles in bone and craniofacial development","volume":"8","author":"Pakvasa M","year":"2020","unstructured":"Pakvasa M, Haravu P, Boachie-Mensah M. Notch signaling: its essential roles in bone and craniofacial development. 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Eur Radiol. 2014;24(10):2417\u20132426."},{"key":"b21","series-title":"XLI Congreso Anual de la Sociedad Espa\u00f1ola de Ingenier\u00eda Biom\u00e9dica","first-page":"39","article-title":"Deep learning-based generation of synthetic CT from MR images for craniosynostosis planning","author":"Mayo CS","year":"2023","unstructured":"Mayo CS, Cubero L, Aguado del Hoyo A, Ochandiano S, Pascau J. Deep learning-based generation of synthetic CT from MR images for craniosynostosis planning. In: XLI Congreso Anual de la Sociedad Espa\u00f1ola de Ingenier\u00eda Biom\u00e9dica. Universidad Polit\u00e9cnica de Cartagena; 2023:39-42."},{"issue":"7","key":"b22","series-title":"Diagnostics (Basel)","first-page":"1516","article-title":"A radiation-free classification pipeline for craniosynostosis using statistical shape modeling","volume":"12","author":"Schaufelberger M","year":"2022","unstructured":"Schaufelberger M, K\u00fchle R, Wachter A. A radiation-free classification pipeline for craniosynostosis using statistical shape modeling. 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