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Vol. 43, No. 2, 2007
Issue release date: February 2007
Pediatr Neurosurg 2007;43:102–106

Expansion Cranioplasty with Jackscrew Distracters for Craniosynostosis and Intracranial Hypertension in Transplanted Osteopetrosis

Dowlati D. · Winston K.R. · Ketch L.L. · Quinones R. · Giller R. · Frattini A. · van Hove J.
Departments of aNeurosurgery and bPediatrics, The University of Colorado Health Sciences Center and The Children’s Hospital, Denver, Colo., USA; cDepartment of Human Genome, Institute of Biomedical Technologies, CNR, Segrate, Milan, Italy

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Background: An 11-month-old boy with autosomal recessive infantile osteopetrosis presented, 7 months after bone marrow transplantation, with normal ventricular size and life-threatening intracranial hypertension due to pansynostosis. Methods: The cranial vault was expanded by using jackscrew distracters to upwardly advance the upper part of the calvarium. Results: The procedure achieved a 15-mm upward expansion of the cranial vault over a 15-day period, and the volume of the cranial vault was increased by 139 ml. All clinical manifestations of intracranial hypertension resolved. Conclusion: Cranial vault expansion with jackscrew distracters was successful in relieving intracranial hypertension in an infant with pancraniosynostosis complicating bone marrow transplanted malignant infantile osteopetrosis.

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  1. Fasth A, Porras O: Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999;3(suppl 1):102–107.
  2. Felix R, Hofstetter W, Cecchini MG: Recent developments in the understanding of the pathophysiology of osteopetrosis. Eur J Endocrinol 1996;134:143–156.
  3. Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 2003;29:87–97.
  4. Tolar J, Teitelbaum SL, Orchard PJ: Osteopetrosis. N Engl J Med 2004;351:2839–2849.
  5. Wilson CJ, Vellodi A: Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 2000;83:449–452.
  6. Frattini A, Orchard PJ, Sobacchi C, et al: Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000;25:343–346.
  7. Frattini A, Pangrazio A, Susani L, et al: Chloride channel ClCN7 mutations are responsible for severe recessive, dominant and intermediate osteopetrosis. J Bone Miner Res 2003;18:1740–1747.
  8. Sobacchi C, Frattini A, Orchard PJ, et al: The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001;10:1767–1773.
  9. Rouselle AV, Heyman D: Osteoclastic acidification pathways during bone resorption. Bone 2002;30:533–540.
  10. Helfrich MH, Aronson DC, Everts V, et al: Morphologic features of bone in human osteopetrosis. Bone 1991;12:411–419.
  11. Beard CJ, Key L, Newburger PE, et al: Neutropil defect associated with malignant infantile osteopetrosis. J Lab Clin Med 1986;108:498–505.
  12. Takai T, Inui M, Inoue K, Mori Y: [Regulation of osteoclast development by immunoglobulin-like receptors]. Nippon Rinsho 2005;63:1562–1568.

    External Resources

  13. Teitelbaum SL: Bone resorption by osteoclasts. Science 2000;289:1504–1508.
  14. Cleiren E, Bénichou O, Van Hul E, et al: Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 2001;10:2861–2867.
  15. Stocks RM, Wang WC, Thompson JW, Stocks MC 2nd, Horwitz EM: Malignant infantile osteopetrosis: otolaryngological complications and management. Arch Otolaryngol Head Neck Surg 1998;124:689–694.
  16. Taranta A, Migliaccio S, Recchia I, et al: Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. Am J Pathol 2003;162:57–68.
  17. Cheow HK, Steward CG, Grier DJ: Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation. Pediatr Radiol 2001;31:869–875.
  18. Coccia PF, Krivit W, Cervenka J, et al: Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980;302:701–708.
  19. Gerritsen EJ, Vossen JM, Fasth A, et al: Bone marrow transplantation for autosomal recessive osteopetrosis: a report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 1994;125:896–902.
  20. Kapelushnik J, Shalev C, Yaniv I, et al: Osteopetrosis: a single centre experience of stem cell transplantation and prenatal diagnosis. Bone Marrow Transplant 2001;27:129–132.
  21. McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP: Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood 2001;97:1947–1950.
  22. Thompson DA, Kriss A, Taylor D, et al: Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis. Neuropediatrics 1998;29:137–144.
  23. Frattini A, Blair HC, Sacco MG, et al: Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero. Proc Natl Acad Sci USA 2005;102:14629–14634.
  24. Krimmel M, Niemann G, Reinert S: Surgical correction of craniosynostosis in malignant osteopetrosis. J Craniofac Surg 2004;15:218–220.
  25. Susani L, Pangrazio A, Sobacchi C, et al: TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat 2004;24:225–235.
  26. Ilizarov GA, Deviatov AA: [Surgical lengthening of the shin with simultaneous correction of deformities]. Ortop Travmatol Protez 1969;30:32–37.
  27. Matsumoto K, Nakanishi H, Kubo Y, Yokozeki M, Moriyama K: Advances in distraction techniques for craniofacial surgery. J Med Invest 2003;50:17–25.
  28. Talisman R, Hemmy DC, Denny AD: Frontofacial osteotomies, advancement, and remodeling by distraction: an extended application of the technique. J Craniofac Surg 1997;8:308–317.

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