Osteopetrosis with Chiari I malformation: presentation and surgical management

Case report

View More View Less
  • Department of Neurosurgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa
Restricted access

Purchase Now

USD  $45.00

JNS + Pediatrics - 1 year subscription bundle (Individuals Only)

USD  $505.00

JNS + Pediatrics + Spine - 1 year subscription bundle (Individuals Only)

USD  $600.00
Print or Print + Online

Osteopetrosis is a heterogeneous group of rare, inherited disorders of the skeleton that results in neurological manifestations due to restriction of growth of cranial foramina and calvarial thickening. A 25-year-old woman with a history of autosomal dominant osteopetrosis presented to the authors' institution with headache worsened by exertion and radiating from the occipital region forward with episodes of choking/coughing when eating and a loss of gag reflex on physical examination. On MR imaging, she was found to have severe posterior fossa calvarial thickening resulting in a small posterior fossa and tonsillar ectopia of 9 mm and compression and deformation of the brainstem. She underwent posterior fossa craniectomy, foramen magnum decompression, and partial C-1 laminectomy with external durotomy. The patient did well postoperatively with resolution of symptoms. This case describes a new neurological manifestation of autosomal dominant osteopetrosis. To the authors' knowledge, this report represents the first described case of extreme posterior fossa calvarial thickening from autosomal dominant osteopetrosis with associated Chiari I malformation (CM-I) requiring posterior fossa decompression and extradural decompression. Given previously published MR imaging data that demonstrate the association of osteopetrosis and CM may be more common than in this case alone, the authors discuss the need for further investigation of the incidence of CM-I in patients with autosomal dominant osteopetrosis. Additionally, they review osteopetrosis and other diagnoses of calvarial hyperostosis presenting as CM-I.

Abbreviations used in this paper:

ADOII = autosomal dominant osteopetrosis Type II; CM-I = Chiari I malformation.

JNS + Pediatrics - 1 year subscription bundle (Individuals Only)

USD  $505.00

JNS + Pediatrics + Spine - 1 year subscription bundle (Individuals Only)

USD  $600.00

Contributor Notes

Address correspondence to: Brian J. Dlouhy, M.D., Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, Iowa 52242. email: brian-dlouhy@uiowa.edu.
  • 1

    Adès LC, , Morris LL, , Burns R, & Haan EA: Neurological involvement in Worth type endosteal hyperostosis: report of a family. Am J Med Genet 51:4650, 1994

    • Search Google Scholar
    • Export Citation
  • 2

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

  • 3

    Al-Tamimi YZ, , Tyagi AK, , Chumas PD, & Crimmins DW: Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. Report of 3 cases. J Neurosurg Pediatr 1:103106, 2008

    • Search Google Scholar
    • Export Citation
  • 4

    Albert GW, , Menezes AH, , Hansen DR, , Greenlee JD, & Weinstein SL: Chiari malformation Type I in children younger than age 6 years: presentation and surgical outcome. Clinical article. J Neurosurg Pediatr 5:554561, 2010

    • Search Google Scholar
    • Export Citation
  • 5

    Albert L Jr, & Hirschfeld A: Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review. Surg Neurol 72:157161, 2009

    • Search Google Scholar
    • Export Citation
  • 6

    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

    • Search Google Scholar
    • Export Citation
  • 7

    Bauer AM, , Mueller DM, & Oró JJ: Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report. Neurosurg Focus 19:5 E14, 2005

    • Search Google Scholar
    • Export Citation
  • 8

    Curé JK, , Key LL, , Goltra DD, & VanTassel P: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol 21:11101115, 2000

  • 9

    Day RA, , Park TS, , Ojemann JG, & Kaufman BA: Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report. Neurosurgery 41:960964, 1997

    • Search Google Scholar
    • Export Citation
  • 10

    du Plessis JJ: Sclerosteosis: neurosurgical experience with 14 cases. J Neurosurg 78:388392, 1993

  • 11

    Dyste GN, , Menezes AH, & VanGilder JC: Symptomatic Chiari malformations. An analysis of presentation, management, and long-term outcome. J Neurosurg 71:159168, 1989

    • Search Google Scholar
    • Export Citation
  • 12

    Fenoy AJ, , Menezes AH, & Fenoy KA: Craniocervical junction fusions in patients with hindbrain herniation and syringohydromyelia. J Neurosurg Spine 9:19, 2008

    • Search Google Scholar
    • Export Citation
  • 13

    Galarza M, , López-Guerrero AL, & Martínez-Lage JF: Posterior fossa arachnoid cysts and cerebellar tonsillar descent: short review. Neurosurg Rev 33:305314, 2010

    • Search Google Scholar
    • Export Citation
  • 14

    Greenlee J, , Garell PC, , Stence N, & Menezes AH: Comprehensive approach to Chiari malformation in pediatric patients. Neurosurg Focus 6:6 e4, 1999

    • Search Google Scholar
    • Export Citation
  • 15

    Greenlee JD, , Donovan KA, , Hasan DM, & Menezes AH: Chiari I malformation in the very young child: the spectrum of presentations and experience in 31 children under age 6 years. Pediatrics 110:12121219, 2002

    • Search Google Scholar
    • Export Citation
  • 16

    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

    • Search Google Scholar
    • Export Citation
  • 17

    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

    • Search Google Scholar
    • Export Citation
  • 18

    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

    • Search Google Scholar
    • Export Citation
  • 19

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

  • 20

    Menezes AH: Primary craniovertebral anomalies and the hindbrain herniation syndrome (Chiari I): data base analysis. Pediatr Neurosurg 23:260269, 1995

    • Search Google Scholar
    • Export Citation
  • 21

    Menezes AH, , Greenlee JD, & Donovan KA: Honored guest presentation: lifetime experiences and where we are going: Chiari I with syringohydromyelia—controversies and development of decision trees. Clin Neurosurg 52:297305, 2005

    • Search Google Scholar
    • Export Citation
  • 22

    Menezes AH, & VanGilder JC: Transoral-transpharyngeal approach to the anterior craniocervical junction. Ten-year experience with 72 patients. J Neurosurg 69:895903, 1988

    • Search Google Scholar
    • Export Citation
  • 23

    Menezes AH, & Vogel TW: Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst 24:11551163, 2008

    • Search Google Scholar
    • Export Citation
  • 24

    Milhorat TH, , Chou MW, , Trinidad EM, , Kula RW, , Mandell M, & Wolpert C, et al. : Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44:10051017, 1999

    • Search Google Scholar
    • Export Citation
  • 25

    Mocco J, , Komotar RJ, , Zacharia BE, , Feldstein NA, & Bruce JN: Aggressive cranial vault decompression for cranial hyperostosis: technical case report of two cases. Neurosurgery 57:1 Suppl E212, 2005

    • Search Google Scholar
    • Export Citation
  • 26

    Morioka T, , Shono T, , Nishio S, , Yoshida K, , Hasuo K, & Fukui M: Acquired Chiari I malformation and syringomyelia associated with bilateral chronic subdural hematoma. Case report. J Neurosurg 83:556558, 1995

    • Search Google Scholar
    • Export Citation
  • 27

    Nishikawa M, , Sakamoto H, , Hakuba A, , Nakanishi N, & Inoue Y: Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg 86:4047, 1997

    • Search Google Scholar
    • Export Citation
  • 28

    Paul KS, , Lye RH, , Strang FA, & Dutton J: Arnold-Chiari malformation. Review of 71 cases. J Neurosurg 58:183187, 1983

  • 29

    Sadok BA: Acquired Chiari I malformation and syringomyelia associated with bilateral chronic subdural hematoma. J Neurosurg 85:191192, 1996

    • Search Google Scholar
    • Export Citation
  • 30

    Sewell MD, , Akram H, & Wadley J: Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia. Br J Neurosurg 22:8385, 2008

    • Search Google Scholar
    • Export Citation
  • 31

    Stark Z, & Savarirayan R: Osteopetrosis. Orphanet J Rare Dis 4:5, 2009

  • 32

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

  • 33

    Stovner LJ, , Bergan U, , Nilsen G, & Sjaastad O: Posterior cranial fossa dimensions in the Chiari I malformation: relation to pathogenesis and clinical presentation. Neuroradiology 35:113118, 1993

    • Search Google Scholar
    • Export Citation
  • 34

    Tubbs RS, , Hill M, , Loukas M, , Shoja MM, & Oakes WJ: Volumetric analysis of the posterior cranial fossa in a family with four generations of the Chiari malformation Type I. J Neurosurg Pediatr 1:2124, 2008

    • Search Google Scholar
    • Export Citation
  • 35

    Tubbs RS, , McGirt MJ, & Oakes WJ: Surgical experience in 130 pediatric patients with Chiari I malformations. J Neurosurg 99:291296, 2003

    • Search Google Scholar
    • Export Citation
  • 36

    Yeh DD, , Koch B, & Crone KR: Intraoperative ultrasonography used to determine the extent of surgery necessary during posterior fossa decompression in children with Chiari malformation type I. J Neurosurg 105:1 Suppl 2632, 2006

    • Search Google Scholar
    • Export Citation

Metrics

All Time Past Year Past 30 Days
Abstract Views 506 120 21
Full Text Views 102 8 2
PDF Downloads 104 7 1
EPUB Downloads 0 0 0