Case Reports Annals and Essences of Dentistry Vol. - III Issue 2 Apr – jun 2011 57 doi:10.5368/aedj.2011.3.2.3.2 OSTEOPETROSIS – A CASE REPORT 1 Uday Shankar 1 Senior lecturer 2 Vijaya Kumar 2 Professor and Head 3 Deepika Swetha 3 Tutor 1,2 Department of oral Medicine and Radiology, CKS Theja Dental college, Tirupathi, Andhra Pradesh- India.. ABSTRACT Osteopetrosis is a group of rare hereditary skeletal disorder characterized by marked increase in bone density. This results from a defect in bone remodeling caused by failure of normal osteoclast function. It is an extremely rare disorder affecting the bones. Osteopetrosis results because there is an imbalance between the formation of bone and the breakdown of the bone. Several types of osteopetrosis are seen which vary in severity. Symptoms can include fractures, frequent infections, blindness, deafness and strokes. The disease represents with variations in clinical presentation because of the heterogeneity of genetic defects resulting in osteoclast dysfunction. Medical treatment is based on efforts to stimulate host osteoclasts or provide an alternate source of osteoclasts. The aim of this paper is to present a 4 yr old female child’s case report with emphasis on its clinical and radiological features. KEY WORDS:. Osteopetrosis. Osteoblasts. Osteoclasts. Marble bone. INTRODUCTION Osteopetrosis commonly called as stone bone, also known as Marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder. In this condition the bones harden, becoming denser resulting from a defect in bone remodeling caused by failure of normal osteoclast function. Osteopetrosis can cause osteosclerosis 1 Normal bone growth is achieved with a balance between bone formation by osteoblasts and bone resorption by osteoclasts. In osteopetrosis, the number of osteoclasts may be reduced, normal or increased. Most importantly osteoclast dysfunction is the main cause for the pathogenesis of the disease. The exact mechanism is not known, however deficiency of carbonic anhydrase in osteoclasts is seen. The absence of this enzyme causes defective hydrogen ion pumping by osteoclasts and this in turn causes defective bone resorption by osteoclasts, as an acidic environment is needed for dissociation of calcium hydroxyapetite from bone matrix. Hence bone resorption fails while its formation persists. Hence excessive bone is formed 2 . Three clinically distinct forms of osteopetrosis are recognized – The infantile malignant autosomal recessive form, the intermediate autosomal recessive form and the adult benign autosomal dominant form 3 . Osteopetrosis is generally diagnosed through skeletal radiographs. Radiographs of osteopetrosis patients will have an unusual density with a chalky white appearance. Bone density tests and bone biopsies can confirm the diagnosis while other tests such as CT scans or MRI can be performed to evaluate any potential complications. Case Report A 4 year old female child reported to the Department of Oral medicine , CKS Theja Dental college with a complaint of missing upper and lower teeth and difficulty in taking food. Patient complains that only a single tooth in the upper and lower jaw erupted during 2 years of age after which no other teeth have erupted. Patient is unable to chew food and has difficulty in eating. There was no relevant medical history. History of consangious marriage of parents was present. Her general examination revealed stunted growth thickened wrists, frontal bossing and strabismus (squint ).( Fig.1) Her CNS examination revealed that patient was blind. Patient lost her vision when she was one and a half year old. She speaks coherently. Hearing was impaired. All other systemic examinations were normal. Extra oral examination revealed hypertelorism of the eyes, divergent strabismus, frontal bossing of skull, increased anteroposterior dimension of the skull and flattening of nasal bridge).( Fig.2 and Fig.3). Intraoral examination revealed normal mouth opening and jaw movements. Only 51 and 71 were present and all other teeth had failed to erupt (Fig.4 and Fig.5) . No other abnormality was detected in the oral cavity. In view of the unerupted deciduous teeth, past history of consangious marriage of parents, loss of vision when patient was one and a half year old, impaired hearing and features of thickened wrists, frontal bossing,