The study is about a 6 years old boy who was hospitalized during the neonatal period for 10 days in the neonatal intensive care unit for a status epileptical with a normal check-up (CT, ETF, EEG and biological check-up).

      At the age of 1 year, the parents noticed a delay in psychomotor acquisition, a delay in dental growth and blindness.

      At the age of 3 years, the child was hospitalized for a hemorrhagic syndrome with epistaxis of medium abundance and gingivorrhagia. He had developmental delay, a psychomotor delay, a blindness, a retrognatism and no teething. His biological check-up showed a normocytic normochromic anemia with thrombocytopenia. The myelogram was normal, and the thoracic and skeletal radiography showed a condensed aspect of the bone frame with symmetrical and bilateral periosteal appositions at the upper extremity of the two humeri.

      This clinical aspect, combined with the radiological and biological work-up, concluded to osteopetrosis confirmed by genetic study, whitch has identified a double heterozygosity.

Condensed aspect of the bone frame

Condensed aspect of skell base

Osteopetrosis face.