{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T20:14:26Z","timestamp":1772828066732,"version":"3.50.1"},"reference-count":56,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,1]]},"abstract":"<jats:sec>\n                    <jats:title>OBJECTIVE<\/jats:title>\n                    <jats:p>While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>An institutional database was retrospectively queried for all pediatric patients with VACTERL association. Patients were assessed for the presence of a syrinx. Those with no accompanying lesion to which the syrinx could be ascribed were designated idiopathic. Descriptive statistics and qualitative analyses characterized the clinical presentation and outcomes of this population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>The authors retrospectively identified 186 patients between 1993 and 2023 with VACTERL association. Of these 186 patients, 141 (75.8%) had a tethered spinal cord and 44 (23.7%) had a syrinx. Most syrinxes could be ascribed to the presence of a tethered spinal cord and\/or Chiari malformation; however, 4 (9.1%) of the 44 appeared idiopathic, suggesting the incidence of idiopathic syrinxes in this patient population may be as high as 2.2% (4\/186). Most patients remained asymptomatic aside from a single patient who presented with mild gait dysfunction that resolved over time. All syrinxes were managed conservatively, and all but one decreased or remained stable in size on follow-up imaging.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS<\/jats:title>\n                    <jats:p>Although limited, current estimates suggest the general incidence of an idiopathic syrinx is between 5.6 and 8.4 per 100,000 people; these findings in a pediatric cohort with VACTERL association suggest an incidence of 2200 per 100,000 (i.e., 2.2%). Thus, an idiopathic syrinx may be 200\u2013400 times as prevalent in the pediatric VACTERL population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/2024.10.peds24242","type":"journal-article","created":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T21:26:12Z","timestamp":1736544372000},"page":"385-390","source":"Crossref","is-referenced-by-count":0,"title":["Incidence of idiopathic syrinx in pediatric patients diagnosed with VACTERL association"],"prefix":"10.3171","volume":"35","author":[{"given":"Joanna E.","family":"Papadakis","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Boston Children\u2019s Hospital, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Weber","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Boston Children\u2019s Hospital, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John S.","family":"Albanese","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Boston Children\u2019s Hospital, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashley K.","family":"Birch","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Boston Children\u2019s Hospital, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Warf","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Boston Children\u2019s Hospital, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"1","key":"b1","series-title":"J Neurosurg Pediatr","first-page":"30","article-title":"Idiopathic syrinx in the pediatric population: a combined center experience","volume":"7","author":"Magge SN","year":"2011","unstructured":"Magge SN, Smyth MD, Governale LS,  Idiopathic syrinx in the pediatric population: a combined center experience. J Neurosurg Pediatr. 2011;7(1):30\u201336."},{"issue":"4","key":"b2","series-title":"J Neurosurg Pediatr","first-page":"452","article-title":"Management of idiopathic pediatric syringohydromyelia","volume":"16","author":"Rodriguez A","year":"2015","unstructured":"Rodriguez A, Kuhn EN, Somasundaram A, Couture DE. Management of idiopathic pediatric syringohydromyelia. J Neurosurg Pediatr. 2015;16(4):452\u2013457."},{"issue":"5","key":"b3","series-title":"Br J Neurosurg","first-page":"683","article-title":"Management of isolated syringomyelia in the paediatric population\u2014a review of imaging and follow-up in a single centre","volume":"27","author":"Joseph RN","year":"2013","unstructured":"Joseph RN, Batty R, Raghavan A, Sinha S, Griffiths PD, Connolly DJA. Management of isolated syringomyelia in the paediatric population\u2014a review of imaging and follow-up in a single centre. Br J Neurosurg. 2013;27(5):683\u2013686."},{"issue":"6","key":"b4","series-title":"Neurosurg Focus","first-page":"E15","article-title":"Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management","volume":"31","author":"Roy AK","year":"2011","unstructured":"Roy AK, Slimack NP, Ganju A. Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management. Neurosurg Focus. 2011;31(6):E15."},{"key":"b5","series-title":"Medscape","article-title":"Syringomyelia: background, pathophysiology, etiology","author":"Al-Shatoury H","unstructured":"Al-Shatoury H. Syringomyelia: background, pathophysiology, etiology. Medscape. Published online April 17, 2023. Accessed November 21, 2024. https:\/\/emedicine.medscape.com\/article\/1151685-overview#a6?form=fpf"},{"key":"b6","series-title":"June","article-title":"Pediatric syringomyelia. PM&R KnowledgeNow","volume":"16","author":"Srinivasan R","year":"2022","unstructured":"Srinivasan R, Matthews S, Sanders C. Pediatric syringomyelia. PM&R KnowledgeNow. June 16, 2022.Accessed November 21, 2024. https:\/\/now.aapmr.org\/pediatric-syringomyelia\/"},{"key":"b7","series-title":"Orphanet J Rare Dis","first-page":"56","article-title":"VACTERL\/VATER association","volume":"6","author":"Solomon BD","year":"2011","unstructured":"Solomon BD. VACTERL\/VATER association. Orphanet J Rare Dis. 2011;6:56."},{"issue":"12","key":"b8","series-title":"Am J Med Genet A","first-page":"3784","article-title":"Exome survey of individuals affected by VATER\/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes","volume":"185","author":"Kolvenbach CM","year":"2021","unstructured":"Kolvenbach CM, van der Ven AT, Kause F,  Exome survey of individuals affected by VATER\/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Am J Med Genet A. 2021;185(12):3784\u20133792."},{"issue":"10","key":"b9","series-title":"Birth Defects Res","first-page":"591","article-title":"HSPA6: A new autosomal recessive candidate gene for the VATER\/VACTERL malformation spectrum","volume":"111","author":"Kause F","year":"2019","unstructured":"Kause F, Zhang R, Ludwig M,  HSPA6: A new autosomal recessive candidate gene for the VATER\/VACTERL malformation spectrum. Birth Defects Res. 2019;111(10):591\u2013597."},{"issue":"10","key":"b10","series-title":"Birth Defects Res","first-page":"478","article-title":"Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER\/VACTERL, VACTER\/VACTERL-like association, and isolated anorectal malformation","volume":"114","author":"Thiem CE","year":"2022","unstructured":"Thiem CE, Stegmann JD, Hilger AC,  Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER\/VACTERL, VACTER\/VACTERL-like association, and isolated anorectal malformation. Birth Defects Res. 2022;114(10):478\u2013486."},{"issue":"4","key":"b11","series-title":"Fetal Pediatr Pathol","first-page":"557","article-title":"Fetal tethered spinal cord: diagnostic features and its association with congenital anomalies","volume":"42","author":"Yang X","year":"2023","unstructured":"Yang X, Sun S, Ji Y, Xu Y, Sun L, Wu Q. 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AJNR Am J Neuroradiol. 1996;17(5):1003\u20131004."},{"issue":"6","key":"b25","series-title":"Neurosurgery","first-page":"1351","article-title":"Terminal syringomyelia in association with the tethered cord syndrome","volume":"45","author":"Erkan K","year":"1999","unstructured":"Erkan K, Unal F, Kiris T. Terminal syringomyelia in association with the tethered cord syndrome. Neurosurgery. 1999;45(6):1351\u20131360."},{"issue":"3","key":"b26","series-title":"J Korean Neurosurg Soc","first-page":"338","article-title":"Syringomyelia in the tethered spinal cords","volume":"63","author":"Lee JY","year":"2020","unstructured":"Lee JY, Kim KH, Wang KC. Syringomyelia in the tethered spinal cords. J Korean Neurosurg Soc. 2020;63(3):338\u2013341."},{"issue":"3","key":"b27","series-title":"J Neurosurg Pediatr","first-page":"307","article-title":"Radiographic and clinical outcome of syringomyelia in patients treated for tethered cord syndrome without other significant imaging abnormalities","volume":"11","author":"Kulwin CG","year":"2013","unstructured":"Kulwin CG, Patel NB, Ackerman LL, Smith JL, Boaz JC, Fulkerson DH. Radiographic and clinical outcome of syringomyelia in patients treated for tethered cord syndrome without other significant imaging abnormalities. J Neurosurg Pediatr. 2013;11(3):307\u2013312."},{"issue":"3","key":"b28","series-title":"Pediatr Neurosurg","first-page":"216","article-title":"Clinical significance of terminal syringomyelia in association with pediatric tethered cord syndrome","volume":"43","author":"Beaumont A","year":"2007","unstructured":"Beaumont A, Muszynski CA, Kaufman BA. 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