Osteopetrosis: Unusual Etiology of Pathological Multiple Fractures in Pediatrics. Case Report

RODRIGUEZ AZRAK, M.S; CASSINELLI, H; SUAREZ RAMIREZ, L.C; SANGUINETI, N.M; BERGADÁ, I

Buenos Aires

Congreso; XXVI Reunion Anual de la Sociedad Latinoamericana de Endocrinología Pediatrica; 2016

Malignant infantile osteopetrosis (MIOP) is a rare congenitaldisease characterized by an increase in bone mass and density dueto a failure in bone resorption (abnormal osteoclast activity). Affectedinfants can exhibit a wide spectrum of clinical manifestationsincluding: impaired hematopoiesis, hepatosplenomegaly,hypocalcemia, visual and hearing impairment.We report the case of a twenty two month-old female patientwith pathological multiple fracture after minor traumas. Physicalexamination showed macrocephaly, growth failure and delay ofdevelopmental milestones. Ophthalmic exam suggested cranialnerve compression with right convergent strabismus, showingright eye with retraction in abduction and supraduction with nystagmusin all portions of the gaze. Atrophic papillae were found atthe fundus exam. No response was observed in the visual evokedpotential. Only a minor commitment of the right optical path thatblocked the conduction of the light stimulus was observed.The x-ray scan showed that the skull and vertebrae presentedgeneralized dense bone, particularly in the skull base and the vertebrae,with ?bone-in-bone? appearance and bone modeling affectingthe metaphyses of long bones. Cerebral CT scan revealed narrowoptic nerves.Biochemical analysis revealed 25OH vitamin D deficiency:7!ng/ml, high PTH levels (164 pg/ml, secondary hyperparathyroidism),and elevated lactate dehydrogenase, glutamic oxaloacetictransaminase and creatine kinase levels.Although diagnosis of MIOP is easy and depends mainly onradiographic examination, it?s often delayed due to rarity of thedisease and lack of clinical suspicion. At present treatment is largelysupportive, Hematopoietic Stem Cell Transplantation (HSCT)was not performed given its high morbidity and mortality.