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15.06.2021 | Original Article

Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document

verfasst von: Palma Ciaramitaro, Luca Massimi, Alessandro Bertuccio, Alessandra Solari, Mariangela Farinotti, Paola Peretta, Veronica Saletti, Luisa Chiapparini, Andrea Barbanera, Diego Garbossa, Paolo Bolognese, Andrew Brodbelt, Carlo Celada, Dario Cocito, Marcella Curone, Grazia Devigili, Alessandra Erbetta, Marilena Ferraris, Marika Furlanetto, Mado Gilanton, George Jallo, Marieta Karadjova, Jorg Klekamp, Fulvio Massaro, Sylvia Morar, Fabrice Parker, Paolo Perrini, Maria Antonia Poca, Juan Sahuquillo, Marcus Stoodley, Giuseppe Talamonti, Fabio Triulzi, Maria Consuelo Valentini, Massimiliano Visocchi, Laura Valentini, On behalf of the International Experts Jury of the Chiari Syringomyelia Consensus Conference, Milan, November 11-13, 2019

Erschienen in: Neurological Sciences | Ausgabe 2/2022

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Abstract

Background

Syringomyelia and Chiari malformation are classified as rare diseases on Orphanet, but international guidelines on diagnostic criteria and case definition are missing. Aim of the study: to reach a consensus among international experts on controversial issues in diagnosis and treatment of Chiari 1 malformation and syringomyelia in adults.

Methods

A multidisciplinary panel of the Chiari and Syringomyelia Consortium (4 neurosurgeons, 2 neurologists, 1 neuroradiologist, 1 pediatric neurologist) appointed an international Jury of experts to elaborate a consensus document. After an evidence-based review and further discussions, 63 draft statements grouped in 4 domains (definition and classification/planning/surgery/isolated syringomyelia) were formulated. A Jury of 32 experts in the field of diagnosis and treatment of Chiari and syringomyelia and patient representatives were invited to take part in a three-round Delphi process. The Jury received a structured questionnaire containing the 63 statements, each to be voted on a 4-point Likert-type scale and commented. Statements with agreement <75% were revised and entered round 2. Round 3 was face-to-face, during the Chiari Consensus Conference (Milan, November 2019).

Results

Thirty-one out of 32 Jury members (6 neurologists, 4 neuroradiologists, 19 neurosurgeons, and 2 patient association representatives) participated in the consensus. After round 2, a consensus was reached on 57/63 statements (90.5%). The six difficult statements were revised and voted in round 3, and the whole set of statements was further discussed and approved.

Conclusions

The consensus document consists of 63 statements which benefited from expert discussion and fine-tuning, serving clinicians and researchers following adults with Chiari and syringomyelia.

Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC (1999) Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44(5):1005–1017PubMedCrossRef

Ciaramitaro P, Garbossa D, Peretta P, Piatelli G, Massimi L, Valentini L, Migliaretti G, Baldovino S, Roccatello D, Kodra Y, Taruscio D, Interregional Chiari and Syringomyelia Consortium on behalf of the Interregional Chiari and Syringomyelia Consortium (2020) Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort. Ann Ist Super Sanita 56(1):48–58PubMed

Kurland LT (1958) Descriptive epidemiology of selected neurologic and myopathic disorders with a particular refrence to a survey in Rochester, Minnesota. J Chronic Dis 8:378–415PubMedCrossRef

Brewis M, Poskanzer DC, Rolland C et al (1966) Neurological diseases in an English city. Acta Neurol 42(S24):1–89

Gudmundsson KR (1968) The prevalence of some neurological diseases in Iceland. Acta Neurol Scand 44:57–69PubMedCrossRef

Brickell KL, Anderson NE, Charleston AJ, Hope JK, Bok AP, Barber PA (2006) Ethnic differences in syringomyelia in New Zealand. J Neurol Neurosurg Psychiatry 77:989–991PubMedPubMedCentralCrossRef

Sakushima K, Tsuboi S, Yabe I, Hida K, Terae S, Uehara R, Nakano I, Sasaki H (2012) Nationwide survey on the epidemiology of syringomyelia in Japan. J Neurol Sci 313:147–152PubMedCrossRef

Klimov VS, Gulay YU, Evsyukov AV, Moysak GI (2017) Syringosubarachnoid shunting in treatment of syringomyelia: a literature review and a clinical case report. Burdenko’s Journal of Neurosurgery 3:22–29

Ciaramitaro P, Baldovino S, Roccatello D et al (2011) Chiari and Syringomyelia Consortium: a model of multidisciplinary and sharing path for rare diseases. Neurol Sci 32(Suppl 3):S271–S272PubMedCrossRef

10.

Consensus Conference on Chiari Malformation (2009) Neurol Sci 2011; 32 (S3)

11.

Michael A, Erio Z (1996) Gazing into the oracle: the Delphi method and its application to social policy and public health. Kingsley Publishers, London

12.

Chiari H (1987) Concerning alterations in the cerebellum resulting from cerebral hydrocephalus (1891). Pediatr Neurosci 13:3–8PubMedCrossRef

13.

Chiari H (1896) Über veränderungen des Kleinhirns, des Pons un der Medulla Oblongata in folge von congenitaler Hydrocephalie des Grosshirns. Denkschr Akad Wiss Wien 63:71–116

14.

Chiari H (1891) Über Veränderungen des Kleinhirns Infolge von Hydrocephalie des Grosshirns. Dtsch Med Wochenschr 17:1172–1175CrossRef

15.

Tubbs RS, Elton S, Grabb P, Dockery SE, Bartolucci AA, Oakes WJ (2001) Analysis of the posterior fossa in children with the Chiari 0 malformation. Neurosurgery 48:1050–1055PubMed

16.

Tubbs RS, Iskandar BJ, Bartolucci AA, Oakes WJ (2004) A critical analysis of the Chiari 1.5 malformation. J Neurosurg 101:179–183PubMed

17.

Iskandar BJ, Hedlund GL, Grabb PA, Oakes WJ (1998) The resolution of syringohydromyelia without hindbrain herniation after posterior fossa decompression. J Neurosurg 89:212–216PubMedCrossRef

18.

Kyoshima K, Kuroyanagi T, Oya F, Kamijo Y, El-Noamany H, Kobayashi S (2002) Syringomyelia without hindbrain herniation: tight cisterna magna. Report of four cases and a review of the literature. J Neurosurg 96:239–249PubMed

19.

Isik N, Elmaci I, Kaksi M, Gokben B, Isik N, Celik M (2011) A new entity: Chiari zero malformation and its surgical method. Turk Neurosurg 21:264–268PubMed

20.

Wang J, Alotaibi NM, Samuel N, Ibrahim GM, Fallah A, Cusimano MD (2017) Acquired Chiari malformation and syringomyelia secondary to space-occupying lesions: A Systematic Review. World Neurosurg 98:800–808PubMedCrossRef

21.

International Headache Society (2018) The International Classification of Headache Disorders, 3rd edition. Cephalalgia 38(1):1–211CrossRef

22.

Urbizu A, Poca M-A, Vidal X, Rovira A, Sahuquillo J, Macaya A (2014) MRI-based morphometric analysis of posterior cranial fossa in the diagnosis of Chiari malformation type I. J Neuroimaging 24(3):250–256PubMedCrossRef

23.

Taylor RF, Larkins MV (2002) Headache and Chiari I malformation: clinical presentation, diagnosis and controversies in management. Curr Pain Headache Rep 6:331–337PubMedCrossRef

24.

Ciaramitaro P, Garbossa D, Ferraris M (2019) Massaro F (2019) Clinical diagnosis-Part I: what is really caused by Chiari I? Childs Nervous System. Published online 35:1673–1679. https://doi.org/10.1007/s00381-019-04206-zCrossRef

25.

Faloon M, Sahai N, Pierce TP, Dunn CJ, Sinha K, Hwang KS, Emami A (2018) Incidence of neuraxial abnormalities is approximately 8% among patients with adolescent idiopathic scoliosis: a meta-analysis. Clin Orthop Relat Res 476(7):1506–1513PubMedPubMedCentralCrossRef

26.

Shen J, Shen J, Huang K, Wu Y, Pan J, Zhan R (2019) Syringobulbia in patients with Chiari malformation type i: a systematic review. Biomed Res Int: 4829102. Published online 2019 Mar 19. 2019:1–8. https://doi.org/10.1155/2019/4829102

27.

Victor M, Ropper HA (2002) Adams &Victor’s: principles of neurology. McGraw Hill

28.

Roser F, Ebner FH, Sixt C, Hagen JM, Tatagiba MS (2010) Defining the line between hydromyelia and syringomyelia. A differentiation is possible based on electrophysiological and magnetic resonance imaging studies. Acta Neurochir 152:213–219PubMedCrossRef

29.

Vaquero J, Martinez R, Arias A (1990) Syringomyela-Chiari complex: magnetic resonance imaging and clinical evaluation of surgical treatment. J Neurosurg 73(1):64–68PubMedCrossRef

30.

Moncho D, Poca MA, Minoves T, Ferrè A, CanasV SJ (2016) Are evoked potentials clinically useful in the study of patients with Chiari malformation type 1? J Neurosurg 15:95–108

31.

Ferrèa PM, de la Calzada MD, Moncho D, Romero O, Sampol G, Sahuquillo J (2017) Sleep-related breathing disorders in Chiari malformation type 1: a prospective study of 90 patients. Sleep Jun 1:40(6). https://doi.org/10.1093/sleep/zsx069CrossRef

32.

Tubbs RS, Beckman J, Naftel RP, Chern JJ, Wellons JC, Rozzelle CJ, Blount JP, Oakes WJ (2011) Institutional experience with 500 cases of surgically treated pediatric Chiari malformation type I. J Neurosurg Pediatr 7(3):248–256PubMedCrossRef

33.

Siasios J, Kapsalaki E, Fountas K (2012) Surgical management of patients with Chiari I malfomation. Int J Pediatr:640127 Published online 2012 Jun 28. https://doi.org/10.1155/2012/640127

34.

Förander P, Sjåvik K, Solheim O, Riphagen I, Gulati S, Salvesen Ø, Jakolac AS (2014) The case for duraplasty in adults undergoing posterior fossa decompression for Chiari I malformation: a systematic review and meta-analysis of observational studies. Clin Neurol Neurosurg 125:58–64PubMedCrossRef

35.

Zhao JL, Li MH, Wang CL, Meng W (2016) A systematic review of Chiari I malformation: techniques and outcomes. World Neurosurg 88:7–14. https://doi.org/10.1016/j.wneu.2015.11.087CrossRefPubMed

36.

Hao X, LinYang C, Rui H, Chang G, Ting L (2017) Posterior fossa decompression with and without duraplasty for the treatment of Chiari malformation type I: a systematic review and meta-analysis. Neurosurg Rev 40:213–221CrossRef

37.

Langbridge B, Phillips E, Choi D (2017) Chiari malformation type 1: a systematic review of natural history and conservative management. World Neurosurgery 104:213–219CrossRef

38.

Milano JB, Barcelos ACES, Onishi FJ, Daniel JW, Botelho RV, Dantas FR, Neto ER, de Freitas Bertolini E, Mudo ML, Brock RS, de Oliveira RS, Joaquim AF (2020) The effect of filum terminale sectioning for Chiari 1 malformation treatment: systematic review. Neurol Sci 41(2):249–256PubMedCrossRef

39.

Massimi L, Novegno F, Rocco D (2011) C. Chiari type I malformation in children. Adv Tech Stand Neurosurg 37:143–211CrossRef

40.

Xu H, Chu L, He R, Ge C, Lei T (2017) Posterior fossa decompression with and without duraplasty for the treatment of Chiari malformation type I-a systematic review and meta-analysis. Neurosurg Rev 40:213–221PubMedCrossRef

41.

Lin W, Duan G, Xie J, Shao J, Wang Z, Jiao B (2018) Comparison of results between posterior fossa decompression with and without duraplasty for the surgical treatment of Chiari malformation type I: a systematic review and meta-analysis. World Neurosurg 110:460–474PubMedCrossRef

42.

Jia C, Li H, Wu J et al (2019) Comparison decompression by duraplasty or cerebellar tonsillectomy for Chiari malformation-I complicated with syringomyelia. Clin Neurol Neurosurg 176:1–7. https://doi.org/10.1016/j.clineuro.2018.11.008CrossRefPubMed

43.

Zhang Y, Zhang N, Qiu H, Zhou J, Li P, Ren M, Shen G, Chen L, Zhou C, Yang D, Liu Y, Mao Y, Gu X, Zhao Y (2011) An efficacy analysis of posterior fossa decompression techniques in the treatment of Chiari malformation with associated syringomyelia. J Clin Neurosci 18:1346–1349PubMedCrossRef

44.

Williams LE, Vannemreddy PS, Watson KS et al (2013) The need in dural graft suturing in Chiari I malformation decompression: a prospective, single-bind, randomized trial comparing sutured and sutureless duraplasty materials. Surg Neurol Int 4:26PubMedPubMedCentralCrossRef

45.

Bhimani AD, Esfahani DR, Denyer S, Chiu RG, Rosenberg D, Barks AL, Arnone GD, Mehta AI (2018) Adult Chiari I malformations: an analysis on surgical risk factors and complications using an International Database. World Neurosurg 115:e490–e500PubMedCrossRef

46.

Aliaga L, Hekman KE, Yassari R, Straus D, Luther G, Chen J, Sampat A, Frim D (2012) A novel scoring system for assessing Chiari malformation type I treatment outcomes. Neurosurgery 70:656–665PubMedCrossRef

47.

Klekamp J, Samii M (1993) Introduction of a score system for the clinical evaluation of patients with spinal processes. Acta Neurochir 123:221–223PubMed

48.

Greenberg JK, Milner E, Yarbrough CK, Lipsey K, Piccirillo JF, Smyth MD, Park TS, Limbrick DD (2015) Outcome methods used in clinical studies of Chiari malformation type I: a systematic review. J Neurosurg 122(2):262–272. https://doi.org/10.3171/2014.9.JNS14406CrossRefPubMed

49.

Prasad GK et al (2016) Coexistent supratentorial and infratentorial subdural hygromas with hydrocephalus after Chiari decompression surgery: review of literature. World Neurosurg 93:208–214PubMedCrossRef

50.

Rossini Z, Milani D, Costa F, Castellani C, Lasio G, Fornari M (2017) Subdural fluid collection and hydrocephalus after foramen magnum decompression for Chiari malformation type I: management algorithm of a rare complicatio. World Neurosurg 106:1057.e9–1057.e15. https://doi.org/10.1016/j.wneu.2017.07.112CrossRef

51.

Feghali J, Marinaro E, Yangiran X et al (2020) Emergency department visits following suboccipital decompression for adult Chiari malformation type I. World Neurosurg 144:e789–e796PubMedPubMedCentralCrossRef

52.

James M, Schuster JM, Zhang F, Norvell DC (2013) Hermsmeyer JT (2013), Persistent/recurrent syringomyelia after chiari decompression—natural history and management strategies: a systematic review. Evid Based Spine Care J 4:116–125CrossRef

53.

Klekamp J (2012) Neurological deterioration after foramen magnum decompression for Chiari malformation type I: old or new pathology? J Neurosurg Pediatric 10(6):538–547. https://doi.org/10.3171/2012.9.PEDS12110

54.

Silva A, Thanabalasundaram G, Wilkinson B, Tsermoulas G, Flint G (2020) Experience with revision craniovertebral decompression in adult patients with Chiari malformation type 1, with or without syringomyelia. British J Neurosurg DOI:1–6. https://doi.org/10.1080/02688697.2020.1823935

55.

Loe ML, Vivas-Buitrago T, Domingo RA et al (2020) Prognostic significance of C1–C2 facet malalignment after surgical decompression in adult Chiari malformation type I: a pilot study based on the Chicago Chiari Outcome Scale. J Neurosurg Spine 16:1–7

56.

Du YQ, Qiao GY, Yin YH, Li T, Yu XG (2020) Posterior atlantoaxial facet joint reduction, fixation and fusion as revision surgery for failed suboccipital decompression in patients with basilar invagination and atlantoaxial dislocation: operative nuances, challenges and outcomes. Clin Neurol Neurosurg 194:105793PubMedCrossRef

57.

Soleman J, Roth G, Bartoli A et al (2017) Syringo-subarachnoid shunt for the treatment of persistent syringomyelia following decompression in Chiari type I malformation: surgical results. World Neurosurg 108:836–843PubMedCrossRef

58.

Ghobrial GM (2015) Arachnolysis or cerebrospinal fluid diversion for adult-onset syringomyelia? A systematic review of the literature. World Neurosurg 83(5):829–835. https://doi.org/10.1016/j.wneu.2014.06.044CrossRefPubMed

59.

Batzdorf U (2005) Primary spinal syringomyelia. J Neurosurg Spine 3:429–435PubMedCrossRef

60.

Roy AK, Slimack NP, Ganju A (2011) Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management. Neurosurg Focus 31(6):E15PubMedCrossRef

61.

Bonfield CM, Levi AD, Arnold PM, Okonkwo DO (2010) Surgical management of post traumatic syringomyelia. Spine 35(21S):S245–S258. https://doi.org/10.1097/BRS.0b013e3181f32e9cCrossRefPubMed

62.

Kleindienst A, Laut FM, Roeckelein V, Buchfelder M, Dodoo-Schittko F (2020) Treatment of posttraumatic syringomyelia: evidence from a systematic review. Acta Neurochir (Wien) 1 62(10):2541–2556. https://doi.org/10.1007/s00701-020-04529-wCrossRef

63.

Klekamp J, Batzdorf U, Samii M, Bothe HW (1997) Treatment of syringomyelia associated with arachnoid scarring caused by arachnoiditis or trauma. J Neurosurg 86:233–240PubMedCrossRef

64.

Cacciola F, Capozza M, Perrini P, Benedetto N, Di Lorenzo N (2009) Syringopleural shunt as a rescue procedure in patients with syringomyelia refractory to restoration of cerebrospinal fluid flow. Neurosurgery 65(3):471–476. https://doi.org/10.1227/01.NEU.0000350871.47574.DECrossRefPubMed

65.

Massimi L, Dellapepa GM, Tamburrini G, Di Rocco C (2011) Sudden onset of Chiari malformation type I in previously asymptomatic patients. Report of 3 cases. J Neurosurg Pediatrics 8:438–442CrossRef

66.

Valentini LG, Visintini S, Mendoal C, et al. (2005) The role of intraoperative electromyographic monitoring in lumbosacral lipomas. Operative Neurosurgery 56(ONS Suppl 2):315-323

67.

Prestor B, Benedicic M (2008) Electrophysiologic and clinical data support the use of dorsal root entry zone myelotomy in syringosubarachnoid shunting for syringomyelia. Surgical Neurology 69;466- 473

68.

Verla T, Fridley J, Khan AB et al (2016) Neuromonitoring for intramedullary spinal cord tumor surgery. World Neurosurgery 96:108–116. https://doi.org/10.1016/j.wneu.2016.07.066CrossRef

69.

Henderson FC, Francomano CA, Koby M et al (2019) Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization. Neurosurg Rev 42(4):915–936. https://doi.org/10.1007/s10143-018-01070-4CrossRefPubMedPubMedCentral

70.

El Asri AC, Akhaddar A, Gazzaz M et al (2010) Dynamic CT scan of the craniovertebral junction: a role in the management of os odontoideum. Neurol Neurochir Pol 44(6):603–608PubMedCrossRef

71.

Klekamp J (2015) Chiari I malformation with and without basilar invagination: a comparative study. Neurosurg Focus 38(4):E12PubMedCrossRef

72.

Vitali M, Canevari FR, Cattalani A, Somma T, Grasso VM, Barbanera A (2019) Stability-sparing endoscopic endonasal odontoidectomy in a malformative craniovertebral junction: case report and biomechanical considerations. In: Visocchi M. (eds) New Trends in craniovertebral junction surgery. Acta Neurochir Suppl 125 Springer, Cham

73.

de Oliveira SU, de Oliveira MF, Heringer LC, Santos Barcelos ACE, Vieira Botelho R (2018) The effect of posterior fossa decompression in adult Chiari malformation and basilar invagination: a systematic review and meta-analysis. Neurosurg Rev 41(1):311–321

74.

Goel A, Bhatjiwale M, Desai K (1998) Basilar invagination: a study based on 190 surgically treated patients. J Neurosurg 88(6):962–968PubMedCrossRef

75.

Yeom JS, Buchowski JM, Kim HJ, Chang BS, Lee CK, Riew KD (2013) Risk of vertebral artery injury: comparison between C1–C2 transarticular and C2 pedicle screws. Spine J 13(7):775–785PubMedCrossRef

Titel: Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document
verfasst von: Palma Ciaramitaro
Luca Massimi
Alessandro Bertuccio
Alessandra Solari
Mariangela Farinotti
Paola Peretta
Veronica Saletti
Luisa Chiapparini
Andrea Barbanera
Diego Garbossa
Paolo Bolognese
Andrew Brodbelt
Carlo Celada
Dario Cocito
Marcella Curone
Grazia Devigili
Alessandra Erbetta
Marilena Ferraris
Marika Furlanetto
Mado Gilanton
George Jallo
Marieta Karadjova
Jorg Klekamp
Fulvio Massaro
Sylvia Morar
Fabrice Parker
Paolo Perrini
Maria Antonia Poca
Juan Sahuquillo
Marcus Stoodley
Giuseppe Talamonti
Fabio Triulzi
Maria Consuelo Valentini
Massimiliano Visocchi
Laura Valentini
On behalf of the International Experts Jury of the Chiari Syringomyelia Consensus Conference, Milan, November 11-13, 2019
Publikationsdatum: 15.06.2021
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 2/2022
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05347-3

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