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ISSN 1684-1824 (Electronic)

2012, Number 5

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Rev Méd Electrón 2012; 34 (5)

Albert-Schonberg disease: presentation of a case

Quesada VHM, Fonseca ISM, González RY

Language: Spanish
References: 10
Page:
PDF size: 254.61 Kb.


ABSTRACT

We presented the case of a newborn baby who, 15 days after birth showed a marked increase of the right clavicular region, place where a clavicle fracture had been diagnosed. The case was studied by Orthopedics, and they found anemia, leukocytosis with leukemic reaction, accelerated erythrosedimentation and increase of the bone density at the clavicular level. He was referred to the Institute of Oncology, where the study was completed with a medullogram not offering conclusive data and bone biopsy showing the presence of the Albert-Schonberg Disease. We decided to publish the case because of this disease is a rare one not only in Cuba but around the world and because of the level of limitation it carries. Currently the child is followed by Pediatrics, Orthopedics and Hematologists, he takes oral antianemics and is growing and developing normally, with suitable levels of hemoglobin, without bleedings or infections.


REFERENCES

  1. Villa A, Guerrini MM, Cassini H., Pangrazio A. Sobacchi C. Infantile malignant autosomal recessive Osteopetrosis: the rich and the poor. Calcify Tissue Into. 2009;84(1):1-12. Citado en PubMed; PMID: 19082854.

  2. Villa A, Vezzoni P, Frattini A. Osteopetrosis and inmunodeficiencias in humans. Curr Opin Allergy Clin Immunol. 2006;6(6):421-7. Citado en PubMed; PMID: 17088646.

  3. Cabrera Aguilar FJ, Álvarez Perea A, Gómez Antúnez M, López González-Cobos C, Pinilla Llorente B, Muiño Míguez A. Osteopetrosis del adulto. Conceptos actuales. REEMO [Internet]. 2009 [citado 3 Mar 2012];18(4):90-2. Disponible en: http://www.elsevier.es/sites/default/files/elsevier/pdf/70/70v18n04a13147273pdf001.pdf.

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

  5. 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. Citado en PubMed; PMID: 21946807.

  6. Raya Jiménez MA, Sequí Canet JM, Sifre Aranda M, Collar del Castillo JI. [Malignant infantile osteopetrosis: usefulness of molecular diagnosis]. An Pediatr. 2011 Oct;75(4):281-2. Citado en PubMed; PMID: 21764652.

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

  8. Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, et al. RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. J Bone Miner Res. 2011 Nov. Citado en PubMed; PMID: 22072319.

  9. Zhang J, Li Y, Hao X, Zhang Q, Yang K, Li L, et al. Recent progress in therapeutic and diagnostic applications of lanthanides. Mini Rev Med Chem. 2011 Jul;11(8):678-94. Citado en PubMed; PMID: 21679137.

  10. 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). Disponible en: http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2008.06983.x/full.




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