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Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele

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Abstract

Intraorbital meningoencephalocele is a rare manifestation of neurofibromatosis type 1 (NF1) caused by secondary changes in sphenoid dysplasia, and it seriously affects patients’ vision and facial appearance. We retrospectively analyzed the clinical data of 23 patients with NF1 and intraorbital meningoencephalocele, summarized the surgical strategies employed, and evaluated their clinical efficacy in order to better understand its management in clinical practice, establish a reasonable surgical strategy, and assess prognosis. Before surgery, 22 patients had unilateral pulsatile exophthalmos, 18 patients had significant visual impairment, and 13 patients had ptosis associated with an orbital plexiform neurofibroma (PNF). All 23 patients underwent microsurgical craniotomy with skull base reconstruction using a soft titanium mesh. One month after surgery, the degree of exophthalmos in the 22 (95.65%) patients was significantly reduced compared with before surgery (P < 0.001), and ocular pulsation had subsided. The visual acuity did not decrease significantly (P = 0.298) compared with before surgery. Eleven (47.83%) patients received phase-II eyelid PNF resection and/or oculoplastic surgery, and the degree of ptosis was significantly reduced (P < 0.001). There was no recurrence of pulsatile exophthalmos, displacement of titanium mesh, decreased visual acuity, or increased degree of ptosis noted during follow-up. The best strategy is to reconstruct the skull base under microscopy to relieve pulsating exophthalmos and preserve existing visual function. In cases of ptosis caused by an eyelid PNF, surgical resection should be performed as soon as possible to remove the tumor, and/or oculoplastic surgery should be performed to improve the cosmetic outcome.

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References

  1. McClatchey AI (2007) Neurofibromatosis. Annu Rev Pathol 2:191–216. https://doi.org/10.1146/annurev.pathol.2.010506.091940

    Article  CAS  PubMed  Google Scholar 

  2. Lammert M, Friedman JM, Kluwe L, Mautner VF (2005) Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141:71–74. https://doi.org/10.1001/archderm.141.1.71

    Article  PubMed  Google Scholar 

  3. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lallo F (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 152A:327–332. https://doi.org/10.1002/ajmg.a.33139

    Article  CAS  PubMed  Google Scholar 

  4. Hirbe AC, Gutmann DH (2014) Neurofibromatosis type 1: a multidisciplinary approach care. Lancet Neurol 13:834–843. https://doi.org/10.1016/S1474-4422(14)70063-8

    Article  PubMed  Google Scholar 

  5. Brems H, Beert E, de Ravel T, Legius E (2009) Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 10:508–515. https://doi.org/10.1016/S1470-2045(09)70033-6

    Article  CAS  PubMed  Google Scholar 

  6. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (2009) Neurofibromatosis type 1 revisited. Pediatrics 123:124–133. https://doi.org/10.1542/peds.2007-3204

    Article  PubMed  Google Scholar 

  7. Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF (2002) Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 296:920–922. https://doi.org/10.1126/science.1068452

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Carey JC (2017) Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era. Am J Med Genet C: Semin Med Genet 175:320–328. https://doi.org/10.1002/ajmg.c.31568

    Article  Google Scholar 

  9. Diggs-Andrews KA, Gutmann DH (2013) Modeling cognitive dysfunction in neurofibromatosis-1. Trends Neurosci 36:237–247. https://doi.org/10.1016/j.tins.2012.12.002

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Cung W, Freedman LA, Khan NE et al (2015) Cephalometry in adults and children with neurofibromatosis type 1: implications for the pathogenesis of sphenoid wing dysplasia and the“NF1 facies”. Eur J Med Genet 58:584–590. https://doi.org/10.1016/j.ejmg.2015.09.001

    Article  PubMed  PubMed Central  Google Scholar 

  11. Arrington DK, Danehy AR, Peleggi A, Proctor MR, Irons MB, Ullrich NJ (2013) Calvarial defects and skeletal dysplasia in patients with neurofibromatosis type 1. J Neurosurg Pediatr 11:410–416. https://doi.org/10.3171/2013.1.PEDS12409

  12. Jacquemin C, Bosley TM, Svedberg H (2003) Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol 24:1678–1682

    PubMed  PubMed Central  Google Scholar 

  13. Jacquemin C, Bosley TM, Liu D, Svedberg H, Buhaliqa A (2002) Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol 23:644–648

    PubMed  PubMed Central  Google Scholar 

  14. de Vries J, Freihofer HP, Menovsky T, Cruysberg JR (1998) Successful surgical repair of progressive exophthalmos caused by a meningocele in a patient with neurofibromatosis type 1. J Neurosurg 89:1032–1035. https://doi.org/10.3171/jns.1998.89.6.1032

    Article  PubMed  Google Scholar 

  15. Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT (1995) Absence of the greater sphenoid wing in neurofibromatosis type 1: congenital or acquired: case report. Neurosurgery 37:129–133

    Article  CAS  PubMed  Google Scholar 

  16. Wise JB, Patel SG, Shah JP (2002) Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type 1. Head Neck 24:207–211

    Article  PubMed  Google Scholar 

  17. Ransom ER, Yoon C, Manolidis S (2006) Single stage near total resection of massive pediatric head and neck plexiform neurofibromas. Int J Pediatr Otorhinolaryngol 70:1055–1061. https://doi.org/10.1016/j.ijporl.2005.10.025

    Article  PubMed  Google Scholar 

  18. Fadda MT, Giustini SS, Verdino GG, Bartoli DD, Mustazza MC, Iannetti GG, Calvieri SS (2007) Role of maxillofacial surgery in patients with Neurofibromatosis type I. J Craniofac Surg 18:489–496. https://doi.org/10.1097/01.scs.0000249349.59096.06

    Article  PubMed  Google Scholar 

  19. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278:51–57

    Article  CAS  PubMed  Google Scholar 

  20. Hunt JC, Pugh D (1961) Skeletal lesions in neurofibromatosis. Radiology 76:1–19

    Article  CAS  PubMed  Google Scholar 

  21. Alwan S, Armstrong L, Joe H, Birch PH, Szudek J, Friedman JM (2007) Associations of osseous abnormalities in neurofibromatosis 1. Am J Med Genet A 143A:1326–1333. https://doi.org/10.1002/ajmg.a.31754

    Article  CAS  PubMed  Google Scholar 

  22. Lotfy M, Xu R, McGirt M, Sakr S, Ayoub B, Bydon A (2010) Reconstruction of skull base defects in sphenoid wing dysplasia associated with neurofibromatosis I with titanium mesh. Clin Neurol Neurosurg 112:909–914. https://doi.org/10.1016/j.clineuro.2010.07.007

    Article  PubMed  Google Scholar 

  23. Dandy WE (1929) An operative treatment for certain cases of meningocele (orencephalocele) into the orbit. Arch Ophthalmol 2:123–132

    Article  Google Scholar 

  24. Friedrich RE, Heiland M, Kehler U, Schmelzle R (2003) Reconstruction of sphenoid wing dysplasia with pulsating exophthalmos in a case of neurofibromatosis type 1 supported by intraoperative navigation using a new skull reference system. Skull Base 13:211–217. https://doi.org/10.1055/s-2004-817697

    Article  PubMed  PubMed Central  Google Scholar 

  25. Dale EL, Strait TA, Sargent LA (2014) Orbital reconstruction for pulsatile exophthalmos secondary to sphenoid wing dysplasia. Ann Plast Surg 72:S107–S111. https://doi.org/10.1097/SAP.0000000000000090

    Article  CAS  PubMed  Google Scholar 

  26. Snyder BJ, Hanieh A, Trott JA, David DJ (1998) Transcranial correction of orbital neurofibromatosis. Plast Reconstr Surg 102:633–642

    Article  CAS  PubMed  Google Scholar 

  27. Concezio DR, Amir S, Gianpiero T, Luca M, Mario G (2017) Sphenoid dysplasia in neurofibromatosis type 1: a new technique for repair. Childs Nerv Syst 33:983–986. https://doi.org/10.1007/s00381-017-3408-z

    Article  Google Scholar 

  28. Niddam J, Bosc R, TSuffee TM, Le Guerinel C, Wolkenstein P, Meningaud JP (2014) Treatment of sphenoid dysplasia with a titanium-reinforced porous polyethylene implant in orbitofrontal neurofibroma: report of three cases. J Craniomaxillofac Surg 42:1937–1941. https://doi.org/10.1016/j.jcms.2014.08.004

    Article  PubMed  Google Scholar 

  29. Wu C-T, Lee S-T, Chen J-F, Lin K-L, Yen S-H (2008) Computer-aided design for three-dimensional titanium mesh used for repairing skull base bone defect in pediatric neurofibromatosis type 1. Pediatr Neurosurg 44:133–139. https://doi.org/10.1159/000113116

    Article  PubMed  Google Scholar 

  30. Avery RA, Dombi E, Hutcheson KA, Acosta MT, Baldwin AM, Madigan WP, Gillespie A, FitzGibbon EJ, Packer RJ, Widemann BC (2013) Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas. Am J Ophthalmol 155(6):1089–1094. https://doi.org/10.1016/j.ajo.2013.01.011

    Article  PubMed  PubMed Central  Google Scholar 

  31. Avery RA, Katowitz JA, Fisher MJ, Heidary G, Dombi E, Packer RJ, Widemann BC, Hutcheson KA, Madigan WP, Listernick R, Liu GT, Berland JE, FitzGibbon EJ, Korf BR (2017) Orbital/periorbital plexiform neurofibromas in children with neurofibromatosis type 1: multidisciplinary recommendations for care. Ophthalmology 124:123–132. https://doi.org/10.1016/j.ophtha.2016.09.020

    Article  PubMed  Google Scholar 

  32. Lee V, Ragge NK, Collin JR (2004) Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology 111:382–388. https://doi.org/10.1016/j.ophtha.2003.05.029

    Article  PubMed  Google Scholar 

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Correspondence to Wang Jia.

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This study was approved by the Ethics Committee of The Third Medical Center of Chinese PLA General Hospital. Written informed consent was obtained from each patient or their legal relatives.

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Niu, J., Wang, J., Wang, D. et al. Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele. Neurol Sci 40, 1217–1225 (2019). https://doi.org/10.1007/s10072-019-03826-2

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  • DOI: https://doi.org/10.1007/s10072-019-03826-2

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