A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

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William W. Scott Department of Pediatric Neurosurgery, University of Texas Southwestern Medical Center, Dallas, Texas

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Bradley E. Weprin Department of Pediatric Neurosurgery, University of Texas Southwestern Medical Center, Dallas, Texas

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Dale M. Swift Department of Pediatric Neurosurgery, University of Texas Southwestern Medical Center, Dallas, Texas

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Object

Osteopetrosis is a rare congenital metabolic bone disease. There are very few reports in the literature associating cerebellar tonsillar herniation (CTH) and hydrocephalus requiring neurosurgical attention. The authors present cases of osteopetrosis requiring neurosurgical intervention from their practice and offer a detailed account of the literature.

Methods

A retrospective review was conducted at the authors' institution, and all children with osteopetrosis requiring neurosurgical attention were identified. Medical charts and radiographic studies were reviewed. Data including age at presentation, sex, symptoms at presentation, age at follow-up, the presence of any neurological comorbidities, and surgical procedures performed were recorded.

Results

Four patients were identified as having osteopetrosis requiring neurosurgical attention at the authors' institution between January 1, 2005, and January 1, 2014. There were 3 females and 1 male with an average age at presentation of 11.1 years; patients were observed for a mean of 4.4 years. All of the patients were identified as harboring jugular foraminal stenosis and CTH. Seventy-five percent of these patients developed hydrocephalus, and in those cases a triventricular pattern of dilation was noted. One patient developed syringomyelia. Three of the 4 patients underwent neurosurgical procedures. Cerebrospinal fluid diversion was performed in 2 patients via a ventriculoperitoneal shunt in one case and an endoscopic third ventriculostomy (ETV) in the other. The former patient required a proximal revision at 2 years for bony overgrowth at the site of the bur hole. Two patients underwent a suboccipital decompression. In patients undergoing CSF diversion, there was improvement in ventricle size.

Conclusions

Variable degrees of hindbrain crowding and/or CTH are mentioned throughout the literature, suggesting that this entity is nearly always present in this patient population. The progressive triventricular hydrocephalus seen in these cases results from a complex combination of both communicating and noncommunicating pathology, which may depend on the type of osteopetrosis, age at presentation, and the presence and degree of venous collateralization, and it appears that the hydrocephalus is more prevalent and more likely to be treated in infants and in the younger, school-aged population. The acquired hindbrain fullness in conjunction with the triventricular pattern of hydrocephalus has kept the authors enthusiastic regarding the use of ETV in these complicated cases.

Abbreviations used in this paper:

CTH = cerebellar tonsillar herniation; ETV = endoscopic third ventriculostomy; ICP = intracranial pressure; MRV = MR venography; ONSF = optic nerve sheath fenestration; SOD = suboccipital decompression; VP = ventriculoperitoneal.
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  • 1

    Al-Mefty O, , Fox JL, , Al-Rodhan N, & Dew JH: Optic nerve decompression in osteopetrosis. J Neurosurg 68:8084, 1988

  • 2

    Al-Tamimi YZ, , Tyagi AK, , Chumas PD, & Crimmins DW: Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. J Neurosurg Pediatr 1:103106, 2008

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3

    Albers-Schonberg H: Roentgenbilder einer seltenen Knochennerkrankung. Munch Med Wochenschr 51:365, 1904

  • 4

    Allen RC, , Nerad JA, , Kattah JC, & Lee AG: Resolution of optic nerve edema and improved visual function after optic nerve sheath fenestration in a patient with osteopetrosis. Am J Ophthalmol 141:945947, 2006

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 5

    Amacher AL: Neurological complications of osteopetrosis. Childs Brain 3:257264, 1977

  • 6

    Baird PA, , Robinson GC, , Hardwick DF, & Sovereign AE: Congenital osteopetrosis: an unusual cause of hydrocephalus. Can Med Assoc J 98:362365, 1968

  • 7

    Borgbjerg BM, , Gjerris F, , Albeck MJ, , Hauerberg J, & Børgesen SE: Frequency and causes of shunt revisions in different cerebrospinal fluid shunt types. Acta Neurochir (Wien) 136:189194, 1995

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 8

    Cinalli G, , Spennato P, , Sainte-Rose C, , Arnaud E, , Aliberti F, & Brunelle F, et al.: Chiari malformation in craniosynostosis. Childs Nerv Syst 21:889901, 2005

  • 9

    Dhamija B, , Pettorini BL, & Solanki G: Endoscopic third ventriculostomy for the treatment of osteopetrosis-related hydrocephalus: a case-based update. Childs Nerv Syst 27:18611865, 2011

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 10

    Di Rocco C, , Massimi L, & Tamburrini G: Shunts vs endoscopic third ventriculostomy in infants: are there different types and/or rates of complications? A review. Childs Nerv Syst 22:15731589, 2006

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 11

    Di Rocco F, , Jucá CE, , Arnaud E, , Renier D, & Sainte-Rose C: The role of endoscopic third ventriculostomy in the treatment of hydrocephalus associated with faciocraniosynostosis. Clinical article. J Neurosurg Pediatr 6:1722, 2010

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 12

    Dlouhy BJ, & Menezes AH: Osteopetrosis with Chiari I malformation: presentation and surgical management. Case report. J Neurosurg Pediatr 7:369374, 2011

  • 13

    Drake JM, & Sainte-Rose C: Shunt complications. The Shunt Book Cambridge, MA, Blackwell, 1995. 123192

  • 14

    el Khazen N, , Faverly D, , Vamos E, , Van Regemorter N, , Flament-Durand J, & Carton B, et al.: Lethal osteopetrosis with multiple fractures in utero. Am J Med Genet 23:811819, 1986

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 15

    Elster AD, , Theros EG, , Key LL, & Chen MY: Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain. Radiology 183:137144, 1992

  • 16

    Etus V, & Ceylan S: The role of endoscopic third ventriculostomy in the treatment of triventricular hydrocephalus seen in children with achondroplasia. Report of 2 cases. J Neurosurg 103 :3 Suppl 260265, 2005

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 17

    Francis PM, , Beals S, , Rekate HL, , Pittman HW, , Manwaring K, & Reiff J: Chronic tonsillar herniation and Crouzon's syndrome. Pediatr Neurosurg 18:202206, 1992

  • 18

    Friedman WA, & Mickle JP: Hydrocephalus in achondroplasia: a possible mechanism. Neurosurgery 7:150153, 1980

  • 19

    Gosain AK, , McCarthy JG, & Wisoff JH: Morbidity associated with increased intracranial pressure in Apert and Pfeiffer syndromes: the need for long-term evaluation. Plast Reconstr Surg 97:292301, 1996

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 20

    Grossman R, & Feldman Z: Bone growth causing ventriculoperitoneal shunt malfunction in a patient with osteopetrosis. Case report. J Neurosurg 100 :5 Suppl Pediatrics 530531, 2004

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 21

    Hayward R: Venous hypertension and craniosynostosis. Childs Nerv Syst 21:880888, 2005

  • 22

    Hirabuki N, , Watanabe Y, , Mano T, , Fujita N, , Tanaka H, & Ueguchi T, et al.: Quantitation of flow in the superior sagittal sinus performed with cine phase-contrast MR imaging of healthy and achondroplastic children. AJNR Am J Neuroradiol 21:14971501, 2000

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 23

    Hoyt CS, & Billson FA: Visual loss in osteopetrosis. Am J Dis Child 133:955958, 1979

  • 24

    James AE Jr, , Dorst JP, , Mathews ES, & McKusick VA: Hydrocephalus in achondroplasia studied by cisternography. Pediatrics 49:4649, 1972

  • 25

    Jamjoom AA, , Jamjoom BA, , Waliuddin AR, & Jamjoom AB: Lessons from a case of osteopetrosis oxycephaly and Chiari type I malformation: a case report. Cases J 2:6787, 2009

  • 26

    Kang JK, & Lee IW: Long-term follow-up of shunting therapy. Childs Nerv Syst 15:711717, 1999

  • 27

    Kehler U, , Regelsberger J, , Gliemroth J, & Westphal M: Outcome prediction of third ventriculostomy: a proposed hydrocephalus grading system. Minim Invasive Neurosurg 49:238243, 2006

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 28

    Kerr NC, , Wand WC, , Mohadjer Y, , Haik BG, , Kaste SC, & Horwitz EM: Reversal of optic canal stenosis in osteopetrosis after bone marrow transplant. Am J Ophthalmol 130:370372, 2000

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 29

    Kestle J, , Drake J, , Milner R, , Sainte-Rose C, , Cinalli G, & Boop F, et al.: Long-term follow-up data from the Shunt Design Trial. Pediatr Neurosurg 33:230236, 2000

  • 30

    King JA, , Vachhrajani S, , Drake JM, & Rutka JT: Neurosurgical implications of achondroplasia. A review. J Neurosurg Pediatr 4:297306, 2009

  • 31

    Klintworth GK: The neurologic manifestations of osteopetrosis (Albers-Schonberg's disease). Neurology 13:512519, 1963

  • 32

    Kulkarni ML, , Marakkanavar SN, , Sushanth S, , Pradeep N, , Ashok C, & Balaji MD, et al.: Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. Indian J Pediatr 74:412415, 2007

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 33

    Lehman RA, , Reeves JD, , Wilson WB, & Wesenberg RL: Neurological complications of infantile osteopetrosis. Ann Neurol 2:378384, 1977

  • 34

    Leikola J, , Koljonen V, , Valanne L, & Hukki J: The incidence of Chiari malformation in nonsyndromic, single suture craniosynostosis. Childs Nerv Syst 26:771774, 2010

  • 35

    Mahmoud Adel AH, , Abdullah AA, & Eissa F: Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation. J Pediatr Neurosci 8:3437, 2013

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 36

    Martinez-Perez D, , Vander Woude DL, , Barnes PD, , Scott RM, & Mulliken JB: Jugular foraminal stenosis in Crouzon syndrome. Pediatr Neurosurg 25:252255, 1996

  • 37

    McCleary L, , Rovit RL, & Murali R: Case report: myelopathy secondary to congenital osteopetrosis of the cervical spine. Neurosurgery 20:487489, 1987

  • 38

    McLone DG, & Aronyk KE: An approach to the management of arrested and compensated hydrocephalus. Pediatr Neurosurg 19:101103, 1993

  • 39

    Mirsadeghi SM, , Meybodi AT, , Nejat F, & Saberi H: Bilateral jugular foraminal stenosis in a patient with benign osteopetrosis associated with pseudotumor cerebri syndrome. Case report. J Neurosurg 110:804807, 2009

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 40

    Molina ME, , Lema A, , Palacios MG, , Somoza I, , Tellado M, & Pita S, et al.: [25 years experience in cerebrospinal shunt. Are new systems better?]. Cir Pediatr 21:223227, 2008. (Span)

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 41

    Moritani T, , Aihara T, , Oguma E, , Makiyama Y, , Nishimoto H, & Smoker WR, et al.: Magnetic resonance venography of achondroplasia: correlation of venous narrowing at the jugular foramen with hydrocephalus. Clin Imaging 30:195200, 2006

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 42

    Patel PJ, , Kolawole TM, , al-Mofada S, , Malabarey TM, & Hulailah A: Osteopetrosis: brain ultrasound and computed tomography findings. Eur J Pediatr 151:827828, 1992

  • 43

    Pierre-Kahn A, , Hirsch JF, , Renier D, , Metzger J, & Maroteaux P: Hydrocephalus and achondroplasia. A study of 25 observations. Childs Brain 7:205219, 1980

  • 44

    Raybaud C, & Di Rocco C: Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23:13791388, 2007

  • 45

    Robson CD, , Mulliken JB, , Robertson RL, , Proctor MR, , Steinberger D, & Barnes PD, et al.: Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. AJNR Am J Neuroradiol 21:17071717, 2000

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 46

    Rollins N, , Booth T, & Shapiro K: MR venography in children with complex craniosynostosis. Pediatr Neurosurg 32:308315, 2000

  • 47

    Rollins N, , Booth T, & Shapiro K: The use of gated cine phase contrast and MR venography in achondroplasia. Childs Nerv Syst 16:569577, 2000

  • 48

    Sainte-Rose C, , LaCombe J, , Pierre-Kahn A, , Renier D, & Hirsch JF: Intracranial venous sinus hypertension: cause or consequence of hydrocephalus in infants?. J Neurosurg 60:727736, 1984

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 49

    Sainte-Rose C, , Piatt JH, , Renier D, , Pierre-Kahn A, , Hirsch JF, & Hoffman HJ, et al.: Mechanical complications in shunts. Pediatr Neurosurg 17:29, 1991. 1992

  • 50

    Saldino RM, , Steinbach HL, & Epstein CJ: Familial acrocephalosyndactyly (Pfeiffer syndrome). Am J Roentgenol Radium Ther Nucl Med 116:609622, 1972

  • 51

    Sari A, & Demirci A: Radiographic type I autosomal dominant osteopetrosis with syringohydromyelia. Neuroradiology 38:532533, 1996

  • 52

    Scott WW, , Fearon JA, , Swift DM, & Sacco DJ: Suboccipital decompression during posterior cranial vault remodeling for selected cases of Chiari malformations associated with craniosynostosis. Clinical article. J Neurosurg Pediatr 12:166170, 2013

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 53

    Shapiro F: Osteopetrosis. Current clinical considerations. Clin Orthop Relat Res 294 3444, 1993

  • 54

    Siatkowski RM, , Vilar NF, , Sternau L, & Coin CG: Blindness from bad bones. Surv Ophthalmol 43:487490, 1999

  • 55

    Steinbok P, , Hall J, & Flodmark O: Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 71:4248, 1989

  • 56

    Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 29:8797, 2003

  • 57

    Susani L, , Pangrazio A, , Sobacchi C, , Taranta A, , Mortier G, & Savarirayan R, et al.: TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat 24:225235, 2004

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 58

    Swift DM, , Nagy L, & Robertson B: Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia. Report of 3 cases. J Neurosurg Pediatr 9:7381, 2012

  • 59

    Taylor WJ, , Hayward RD, , Lasjaunias P, , Britto JA, , Thompson DN, & Jones BM, et al.: Enigma of raised intracranial pressure in patients with complex craniosynostosis: the role of abnormal intracranial venous drainage. J Neurosurg 94:377385, 2001

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 60

    Thompson DN, , Harkness W, , Jones BM, & Hayward RD: Aetiology of herniation of the hindbrain in craniosynostosis. An investigation incorporating intracranial pressure monitoring and magnetic resonance imaging. Pediatr Neurosurg 26:288295, 1997

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 61

    Thompson NM, , Hecht JT, , Bohan TP, , Kramer LA, , Davidson K, & Brandt ME, et al.: Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet 88:145153, 1999

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 62

    Tolar J, , Teitelbaum SL, & Orchard PJ: Osteopetrosis. N Engl J Med 351:28392849, 2004

  • 63

    Turgut M, , Aral YZ, & Ozsunar Y: Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. Case report. J Neurosurg Pediatr 5:419421, 2010

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 64

    Vanier V, , Miller NR, & Carson BS: Bilateral visual improvement after unilateral optic canal decompression and cranial vault expansion in a patient with osteopetrosis, narrowed optic canals, and increased intracranial pressure. J Neurol Neurosurg Psychiatry 69:405406, 2000

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation

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