medigraphic.com
ISSN 1025-0255 (Electronic)

2015, Number 5

<< Back Next >>

AMC 2015; 19 (5)

Marble osteopetrosis: report of a case with this rare disease

Cristobo BT, Rodríguez TS, Di Vasto CG, González CN, Morell AI

Language: Spanish
References: 28
Page: 495-503
PDF size: 438.78 Kb.


ABSTRACT

Background: osteopetrosis includes a group of osseous diseases characterized by an increase o f the bone density due to an osteoclastic dysfunction. It is also known as marble disease or Albers-Schönberg disease.
Objective: to present a case w ith marble osteopetrosis and make the review of the topic.
Clinical case: a fourteen-year-old male patient who presented bone pain that spread to the limbs, as well as severe headache that motivated a neurology study. A predominance of the left mastoid region denied the presence of articular inflammation, fever, rash, nodules or skin lesions. There were not elements of medullary hypoplasia associated to the disease of this patient. In the present physical examination no chronic disease was found. The x-rays of the patient show a widespread increase of the bone density, deformities caused by desalination and diffused bone sclerosis; all this means dense, broad bones without medullary channel which represents hypermineralized cartilages.
Conclusions: the radiologic studies w ere positive and con firmed the diagnosis of marble osteopetrosis (benign). The use of other imaging studies was not necessary to confirm it.


REFERENCES

  1. Stark Z, Savarirayan R. Osteopetrosis. Or-phanet J Rare Dis. 2009 Feb 20;4:5.

  2. Cabrera Aguilar FJ, Álvarez Perea A, Gómez An-túnez M, López González-Cobos C, Pinilla Llorente B, Muiño Míguez A. Osteopetrosis del adulto. Con-ceptos actuales. REEMO [Internet]. 2009 [citado 3 Mar 2012];18(4):[aprox. 2 p.]. Disponible en: http://www.elsevier.es/sites/default/files/elsevier/pdf/70/70v18n04a13147273pdf001.pdf.

  3. De la Uz Ruesga BO, Rodríguez Reyes I, Suárez Beyries LC, Rodríguez Brunet M, Hernández Ga-lano G. Osteopetrosis. Medisan [Internet]. 2008 [citado 3 Mar 2012];12(1):[aprox. 3 p.]. Disponi-ble en: http://www.bvs.sld.cu/revistas/san/vol12_1_08/san15108.pdf.

  4. Al-Aama JY, Dabbagh AA, Edrees AY. A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family. Clin Dysmorphol. 2012 Jan;21(1):1-7.

  5. Raya Jiménez MA, Sequí Canet JM, Sifre Aran-da M, Collar del Castillo JI. Malignant infantile os-teopetrosis: usefulness of molecular diagnosis. An Pediatr. 2011 Oct;75(4):281-2.

  6. Mazas Artasona L. Osteopetrosis o enfermedad de ALBERS-SCHÖNBERG. Hamburg [Internet]. 2014 [citado 3 Mar 2015];7:[aprox. 1 p.]. Dispo-nible en: http://www.elbaulradiologico.com/

  7. Villa A, Vezzoni P, Frattini A. Osteopetrosis and inmunodeficiencias in humans. Curr Opin Allergy Clin Immunol. 2006;6(6):421-7.

  8. Quesada Vento HM, Fonseca Infante SM, Gon-zález Rodríguez Y. Enfermedad de Albert-Schonberg: presentación de un caso. Rev Méd Electrón [Internet]. 2012 Sep-Oct [citado 3 Mar 2012];34(5):[aprox. 3 p.]. Disponible en: http://www.revmatanzas.sld.cu/revista%20medica/ano%202012/vol5%202012/tema10.htm

  9. Asagiri M, Takayanagi H. The molecular under-standing of osteoclast dif-ferentiation. Bone. 2007 Feb;40(2):251-264.

  10. Granados Sandoval E, Martínez Estrada JG, Zepeda Cianca R, Trejo Pimentel A, Sandoval González C. Osteopetrosis (enfermedad de Albers-Schonberg): reporte de un caso y revisión clíni-ca. Med Int Mex [Internet]. 2007 [citado 29 Abr 2012];23(6):[aprox. 4 p.]. Disponible en: http://www.medigraphic.com/pdfs/medintmex/mim-2007/mim076n.pdf

  11. Bénichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Mapping of Autoso-mal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3. Am J Hum Genet. 2001;69:647-654.

  12. Hashino S, Hirota G, Hasegawa M, Chiba K. Peripheral T-cell lymphoma in a patient with os-teopetrosis. Ann Hematol. 2001;80(6):376-8.

  13. Zetterstrom R. Osteopetrosis (marble bone disease); clinical and pathological review. Bibl Paediat [Internet]. 1958 [citado 29 Abr 2012];14(66):[aprox. 20 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/13499353

  14. Enell H, Pehrson M. Studies on osteopetro-sis. Acta Paediat. 1958 May;47(3):279-287.

  15. Askmyr MK, Fasth A, Richter J. Towards a better understanding and new therapeutics of osteopetrosis. British J Haematol [Internet]. 2008 [citado 29 Abr 2012];140(6):[aprox. 3 p.]. Dis-ponible en: http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2008.06983.x/full.

  16. Eraso Lara I, Arenas Planelles A, D´arrigo A, Tejero Ibáñez A. La coxartrosis en los pacientes con osteopetrosis. Su tratamiento quirúrgico. Rev Española de Cirugía Osteoarticular. 2010 Oct;244(45):137-141.

  17. Pangrazio A, Cassani B, Guerrini MM, Cro-ckett JC, Marrella V, Zammataro L, et al. RANK-dependent autosomal recessive osteopetrosis: characterization of 5 new cases with novel muta-tions. J Bone Mineral Res [Internet]. 2011 Nov [citado 23 Jun 2012];27(2):[aprox. 5 p.]. Dis-ponible en: http://onlinelibrary.wiley.com/doi/10.1002/jbmr.559/full

  18. Superti-Furga A, Unger S. Nosology and Classification of Genetic Skeletal Disorders: 2006 Revision. Am J Med Genet. 2007;143A:1-18.

  19. Zhang J, Li Y, Hao X, Zhang Q, Yang K, Li L, et al. Recent progress in therapeutic and diag-nostic applications of lanthanides. Mini Rev Med Chem. 2011 Jul;11(8):678-94.

  20. Maranda B, Chabot G, Décarie JC, Pata M, Azeddine B, Moreau A, et al. Clinical and cellular manifestations of OSTM1-related infantile osteo-petrosis. J Bone Miner Res. 2008 Feb;23(2):296-300.

  21. Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL. Otologic manifestations of malignant os-teopetrosis. Otol Neurotol. 2005 Jul;26(4):762-6.

  22. Cure JK, Key LL, Goltra DD, VanTassel P. Cranial MR imaging of osteopetrosis. Am J Neu-roradiol. 2000;21(6):1110-5.

  23. Satomura K, Kon M, Tokuyama R, Tomonari M, Takechi M, Yuasa T, et al. Osteopetrosis com-plicated by osteomyelitis of the mandible: a case report including characterization of the osteo-petrotic bone. Int J Oral Maxillofac Surg. 2007 Jan;36(1):86-93.

  24. Zhang J, Li Y, Hao X, Zhang Q, Yang K, Li L, et al. Recent progress in therapeutic and diagnos-tic applications of lanthanides. Mini Rev Med Chem. 2011 Jul;11(8):678-94.

  25. Dutra F, Baroni L, Techera M. Osteopetrosis letal hereditaria. Veterinaria (Montevideo) [Internet]. 2012 [citado 9 Feb 2015];48(186):[aprox. 6 p.]. Disponible en: http://revistasmvu.com.uy/component/content/article/52-tecnicos/155-tecnico-osteopetrosis-letal-hereditaria-enfermedad-de-los-huesos-de-marmol-en-terneros-aberdeen-angus-en-uruguay.html

  26. Beers MH, Berkow R, editors. Manual Merck [Internet]. España: editorial; 2010 [citado 23 Jun 2012]. Disponible en: http://www.msd.es/publicaciones/mmerck/MM_19_270.htm

  27. Key LL, Rodriguez RM, Willi SM, Wright NM, Hatcher HC, Eyre DR, et al. Long-Term Treatment of Osteopetrosis with Recombinant Human Inter-feron Gamma. New Engl J Med. 1995 Jun 15;332:1594-9.

  28. Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, et al. Bone marrow trans-plantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. Journal Pediatr. 1994 Dec;125(6):896-902.




2020     |     www.medigraphic.com