Osteopetrosis is a rare genetic disease, caracterized by marked radiodensity of the bones throughout the skeleton. Heterogenous clinical, biochemical, and histological features suggest that the disease is multigenic. We will describe a case with severe growth delay and bone fractures. EDO, 19 years and 9 months old, that came to us due to a skeleton alteration and growth failure. His puberty begun at 18 years old, with slow progress. Six months ago, after falling from his own high he broke his right forearm. He was 141,5 em high and weighted 38,5 kg, with bone age at 13 years and 6 months. The skeleton examination showed hyperdensity of the bones with typical alteration observed in osteopetrosis with signs of fractures in ulna and femur both on the right. The bone density were on lumbar spine and femural neck respectively 10,65 and 15,55 SD higher than the average for his own age. The dosages of the hormones showed total testosterone levels below normal for chronological age (245 ng/dl); normal basal and stimulated gonadotropins levels, GH responsive to hypoglycemia and insulin-like growth factor-I (IGF-I) level low for puberal stage. The plasma calcium (Ca), phosphorus (P), alcaline phosphatase (FA) and intact parathormone (PTH) levels were on the normal range. The incidence of osteopetrosis in our country Is very low and its association with short stature and delayed puberty is well known. The dysplasic bone associated to chronic anemia and repeated infections present mainly in the severe forms of the disease are probably the major causes for the delayed development.
Osteopetrosis; Short stature; Delayed puberty; Fractures