Abstract

Background:
Marble bone disease is an inherited  rare skeletal condition characterized by increased bone density on radiographs and involves not only skeletal system but also hematological,neurological systems as well as dental problems which is inherited either as autosomal dominant or autosomal recessive. Incidence 1 in 200,00LB and 1 in 2,00,000 LB respectively. These conditions vary greatly in presentation and severity ranging from neonatal onset with life threatening complications such as bone marrow failure. We describe a case of 8-year-old female with the typical radiographic and clinical features which doesnot require genetic testing for the diagnosis.
Case Presentation :
A 8-year-old female child  was brought by her parents to our facility  with concerns of failure to thrive and not gaining milestones as per age. She was first born child of a second degree consanguinous marriage born by normal vaginal delivery . The patient had previous complaints of right femur fracture, facial palsy, hearing loss, progressive vision loss, open mouth breathing with halitosis and reccurent respiratory tract infections. After the typical clinical features radiological investigations were organized and the diagnosis of malignant osteopetrosis was made.
Conclusion:
The case we are presenting to you has all the classical symptoms of osteopetrosis, which is a very uncommon skeletal illness that manifests as various systemic issues and has typical imaging features,which strikes the diagnosis of osteopetrosis.