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Altered cerebrospinal fluid dynamics in neurofibromatosis type l: severe arachnoid thickening in patients with neurofibromatosis type 1 may cause abnormal CSF dynamic

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Abstract

Introduction

The object of this study is to understand abnormal dynamic of cerebrospinal fluid (CSF) in patients with neurofibromatosis type 1 (NF1), which may cause temporal lobe herniation and bulging of temporal fossa.

Methods

Four patients, three females and one male, with NF1 were studied retrospectively. They presented with a similar craniofacial deformity, which consisted of pulsatile exophthalmos, an enlarged bony orbit, dysplasia of the sphenoid wing with the presence of a herniation of the temporal lobe into the orbit, and a bulging temporal fossa.

Results and discussion

Surgical exploration demonstrated abnormally thickened arachnoid membrane in one case. Protruding temporal lobe, which was one of the main symptoms in NF1 patients, could be stopped by control of intracranial pressure (ICP) via programmable ventriculoperitoneal shunt (VPS) or extra ventricle drainage implantation. The dense fibrosis of the arachnoid membrane and consequent altered hemispheric CSF dynamics may cause symptoms including pulsatile exophthalmos and consequent worsening of vision, prolapse of the temporal lobe, and enlargement of the temporal fossa. This finding may not present with general features of hydrocephalus, so that delays in diagnosis often result.

Conclusion

For the NF1 patients with cranio-orbito-temporal deformities, prior to any surgical reconstruction, control of increased ICP (IICP) should be primarily considered.

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References

  1. Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, Budach W, Bolke E (2009) Neurofibromatosis. Eur J Med Res 14:102–105

    CAS  PubMed  PubMed Central  Google Scholar 

  2. Binet EF, Kieffer SA, Martin SH, Peterson HO (1969) Orbital dysplasia in neurofibromatosis. Radiology 93:829–833

    Article  CAS  PubMed  Google Scholar 

  3. Mortada A (1967) Intermittent and pulsating exophthalmos. Bull Ophthalmol Soc Egypt 60:365–377

    CAS  PubMed  Google Scholar 

  4. Burrows EH (1963) Bone changes in orbital neurofibromatosis. Br J Radiol 36:549–561

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  6. Marchac D (1984) Intracranial enlargement of the orbital cavity and palpebral remodeling for orbitopalpebral neurofibromatosis. Plast Reconstr Surg 73:534–543

    Article  CAS  PubMed  Google Scholar 

  7. Pomeranz SJ, Shelton JJ, Tobias J, Soila K, Altman D, Viamonte M (1987) MR of visual pathways in patients with neurofibromatosis. AJNR Am J Neuroradiol 8:831–836

    CAS  PubMed  Google Scholar 

  8. Krastinova-Lolov D, Hamza F (1996) The surgical management of cranio-orbital neurofibromatosis. Ann Plast Surg 36:263–269

    Article  CAS  PubMed  Google Scholar 

  9. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA et al (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187–192

    Article  CAS  PubMed  Google Scholar 

  10. Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O’Connell P et al (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62:193–201

    Article  CAS  PubMed  Google Scholar 

  11. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL et al (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249:181–186

    Article  CAS  PubMed  Google Scholar 

  12. Abdel-Wanis ME, Kawahara N (2002) The role of neurofibromin and melatonin in pathogenesis of pseudarthrosis after spinal fusion for neurofibromatous scoliosis. Med Hypotheses 58:395–398

    Article  CAS  PubMed  Google Scholar 

  13. Drobnik J, Dabrowski R (1996) Melatonin suppresses the pinealectomy-induced elevation of collagen content in a wound. Cytobios 85:51–58

    CAS  PubMed  Google Scholar 

  14. 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

    Article  PubMed  PubMed Central  Google Scholar 

  15. 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

    Article  CAS  PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  17. Hunt JC, Pugh DG (1961) Skeletal lesions in neurofibromatosis. Radiology 1–20

  18. Anderson FM, Segall HD, Caton WL (1979) Use of computerized tomography scanning in supratentorial arachnoid cysts. A report on 20 children and four adults. J Neurosurg 50:333–338

    Article  CAS  PubMed  Google Scholar 

  19. Leo JS, Pinto RS, Hulvat GF, Epstein F, Kricheff II (1979) Computed tomography of arachnoid cysts. Radiology 130:675–680

    Article  CAS  PubMed  Google Scholar 

  20. Smith RA, Smith WA (1976) Arachnoid cysts of the middle cranial fossa. Surg Neurol 5:246–254

    CAS  PubMed  Google Scholar 

  21. Wilkins RH, Radtka RA, Burger PC (1993) Spontaneous temporal encephalocele. J Nerosurg 78:492–498

    Article  CAS  Google Scholar 

  22. Rilliet B, Pittet B, Montandon D, Narata AP, de Ribaupierre S, Schils F, Boscherini D, Di Rocco C, Ducrey N (2010) Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1). Neurochirurgie 56:257–270

    Article  CAS  PubMed  Google Scholar 

  23. Huson SM, Harper PS, Compston DA (1988) Von Recklinghausen neurofibromatosis: clinical and population study in South East Wales. Brain 55–81

  24. Afifi AK, Dolan KD, Van Gilder JC, Fincham RW (1988) Ventriculomegaly in neurofibromatosis-1. Association with Chiari type I malformation. Neurofibromatosis 1:299–305

    CAS  PubMed  Google Scholar 

  25. Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC (1988) Cranial MR imaging in neurofibromatosis. AJNR 9:461–468

    Google Scholar 

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

    Article  Google Scholar 

  27. 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

    Article  PubMed  Google Scholar 

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Author notes

  1. Young Sill Kang and Eun-Kyung Park contributed equally to this work.

Authors and Affiliations

  1. Division of Pediatric Neurosurgery, Charité Universitätsmedizin, Berlin, Germany

    Young Sill Kang & U. W. Thomale

  2. Department of Neurosurgery, Universitätsmedizin, Mainz, Germany

    Young Sill Kang

  3. Craniofacial Reformation Clinic, Department of Neurosurgery, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea

    Eun-Kyung Park, Yong-Oock Kim, Ju-Seong Kim, Dong-Seok Kim & Kyu-Won Shim

  4. Pediatric Neurosurgery, Department of Neurosurgery, Severance Children’s Hospital, Yonsei University College of Medicine, Seoul, South Korea

    Eun-Kyung Park, Ju-Seong Kim, Dong-Seok Kim & Kyu-Won Shim

  5. Department of Plastic Surgery, Craniofacial Reformation Clinic, Yonsei University College of Medicine, Seoul, South Korea

    Yong-Oock Kim

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  1. Young Sill Kang
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  2. Eun-Kyung Park
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  3. Yong-Oock Kim
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Correspondence to Kyu-Won Shim.

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Kang, Y.S., Park, EK., Kim, YO. et al. Altered cerebrospinal fluid dynamics in neurofibromatosis type l: severe arachnoid thickening in patients with neurofibromatosis type 1 may cause abnormal CSF dynamic. Childs Nerv Syst 33, 767–775 (2017). https://doi.org/10.1007/s00381-017-3370-9

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  • DOI: https://doi.org/10.1007/s00381-017-3370-9

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