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Oftalmologia ; 50(1): 85-90, 2006.
Article in Romanian | MEDLINE | ID: mdl-16773945

ABSTRACT

Osteopetrosis means a low function of osteoclasts, that induces bone resorption with a decrease in bone density. It has two genetic forms: a benign form with autosomal dominant inheritance (AD) and a malignant form with autosomal recessive inheritance (AR). The most successful therapy is bone marrow transplantation (rate of success 80%). We will present a case of malignant osteopetrosis of a five years old child. The late diagnosis (at 18 month) and the malignant evolution has made possible only palliative treatment, without surgical or ophthalmologic-neurosurgical implication. The prognosis is unfavorable with 70% survival to six years and 30% to ten years.


Subject(s)
Exophthalmos/etiology , Orbit , Osteopetrosis/complications , Osteopetrosis/diagnosis , Skull , Blindness/etiology , Bone Marrow/pathology , Child, Preschool , Diagnosis, Differential , Female , Genes, Recessive , Humans , Orbit/diagnostic imaging , Osteopetrosis/genetics , Osteopetrosis/therapy , Palliative Care , Prognosis , Radiography , Skull/diagnostic imaging
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