[Oculo-orbital changes in osteopetrosis].
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.
Csiszár
A
A
Universitatea de Medicină şi Farmacie Tg Mureş, Clinica de Oftalmologie.
Baghiu
M D
MD
Horváth
A
A
Neghirla
A
A
Rusu
M
M
Maki
C
C
Elekes
E
E
D001766:Blindness / Q000209:etiology; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005094:Exophthalmos / Q000209:etiology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009915:Orbit / Q000000981:diagnostic imaging; D010022:Osteopetrosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D010166:Palliative Care; D011379:Prognosis; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging