RESUMO
Background Malignant osteopetrosis is an extremely rare dense bone disease,and sometimes features ocular disease and cranial nerve palsy.This disease received high attention because of its poor prognosis.And whether the eye manifestation improved after treatment is a problem for concern.Objective This study was to clarify the clinical manifestation,treatment and prognosis of malignant osteopetrosis associated with ocular disease.Methods A retrospective study was adopted.Two children with malignant osteopetrosis associated with eye symptoms were collected from Beijing Children Hospital.The systemic and ocular medical examinations were performed on the patients,including physical examination,hematology laboratory examination,abdominal B ultrasound and bone X ray radiography,external ocular examination,flash visual evoked potential (F-VEP) and CT of orbit.Bone marrow hematopoietic stem cell transplantation was employed and 5-year following-up was cinducted on the chidren.Results The children showed increased bone density,systemic bone sclerosis,basilar thickening,abnormalities of hematology indexes,anemia,hepatosplenomegaly,optical canal stenosis and abnormality of F-VEP P2 wave.In addition,optical disc pale,facial paralysis and paralytic esotropia were seen in a female child and alternating strabismus was found in another boy.After successful treatment,the systemic symptoms remitted in both children,but the eye findings remained unchanged in the female child during the follow-up duration.However,the strabismus diminished in the male child.The optical bone canal widening to 1.9 mm 1 year and 3.2 mm 5 years after treatment in the female child.Conclusions Strabismus and eye disease are the signs of malignant infantile osteopetrosis and reflections of the impairment of the central nervous system.The pathogenetic mechanism of malignant osteopetrosisrelated eye disease is below understanding now.Early bone marrow hematopoietic stem cell transplantation for malignant osteopetrosis can offer the best chance of long-term survival and improve the prognosis of eye diseases.