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Boletín Médico del Hospital Infantil de México

2012, Number 2

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Bol Med Hosp Infant Mex 2012; 69 (2)

Osteopetrosis — calcification beyond the skeletal system. A case report

Mejía OP, Santos-Guzmán J, Villela L, Cedillo-Alemán EJ, García A

Language: Spanish
References: 20
Page: 116-120
PDF size: 230.92 Kb.


ABSTRACT

Background. Osteopetrosis represents a lack of apoptosis in osteoclastic activity, producing a highly calcified but fragile bone due to excess of calcium. Excess calcium deposited in the medullary compartment leads to bone expansion, producing a predominant secondary hematopoiesis accompanied by significant visceromegaly and pancytopenia. Osteopetrosis is a genetic disease with a low prevalence and incidence in Mexico.
Case report. We report the case of a 12-year-old female who presented with bone pain in the lower extremities at an early age. A radiological diagnosis of ostepetrosis was made, and the condition was complicated by multiple fractures and infections. The patient was treated with dietary modifications and analgesics and was considered to be a candidate for hematopoietic stem-cell transplant.
Conclusions. Osteopetrosis is a rare and complex disease without any current effective medical treatment, necessitating a multidisciplinary approach. Hematopoietic stem-cell transplantation offers a promising alternative treatment for certain cases of severe osteopetrosis.


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