1 International Journal of Medical and Dental Case Reports (2016), Article ID 010116, 3 Pages CASE REPORT Osteopetrosis: A case report Karthikeya Patil 1 , V. G. Mahima 1 , Anudeep Raina 2 , Puneet Mutneja 3 1 Department of Oral Medicine and Radiology, JSS Dental College and Hospital, JSS University, Mysore, Karnataka, India, 2 Department of Oral Medicine and Radiology, Teerthankar Mahaveer Dental College and Research Centre, Teerthankar Mahaveer University, Moradabad, Uttar Pradesh, India, 3 Department of Prosthodontics, Teerthankar Mahaveer Dental College and Research Centre, Teerthankar Mahaveer University, Moradabad, Uttar Pradesh, India Abstract Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease may be noted. Radiographic features are usually diagnostic. A case of benign autosomal dominant form of osteopetrosis in an asymptomatic 14-year-old boy is hereby reported. Keywords: Albers-Schonberg disease, endobone, marble-bone disease, osteopetrosis, Rugger-Jersey spine Correspondence Dr. Karthikeya Patil, Department of Oral Medicine and Radiology, JSS Dental College and Hospital, JSS University, Mysore - 570 015, Karnataka, India. Phone: +91-9449822498. Email: patilkarthik@gmail.com Received 24 January 2016; Accepted 18 February 2016 doi: 10.15713/ins.ijmdcr.33 How to cite the article: Patil K, Mahima VG, Raina A, Mutneja P. Osteopetrosis: A case report. Int J Med Dent Case Rep 2016;2:1-3. Introduction Osteopetrosis is a rare genetic skeletal disorder distinguished by a marked increase in bone density caused by a defect in bone remodeling due to failure of normal osteoclast function. [1] The benign autosomal dominant (tarda) form is frequently asymptomatic and diagnosed incidentally in late childhood or adulthood. [2,3] Radiography is an essential tool for diagnosis of osteopetrosis, in which the bones appear uniformly dense and sclerotic. [4] We hereby report an interesting case of benign autosomal dominant type of osteopetrosis in a 14-year- old boy. Case Report A 14-year-old boy reported to us for a routine dental evaluation. Medical history revealed that the patient was an epileptic and on phenytoin tablets (100 mg OD) since a year. Patient’s surgical and family history was insignificant. Examination disclosed a left cephalic asymmetry [Figure 1a] with no other significant oro-dental findings. A routine radiographic evaluation comprised of an orthopantomograph and skull views to assess the cephalic irregularity. Panoramic radiograph [Figure 1b] showed diffuse sclerosis of the maxillary and mandibular alveolar bones. An anteroposterior and lateral skull views depicted an increase in density of cranial and base of the skull bone [Figures 1c and 2a]. In view of these findings, the patient was subjected to a complete skeletal survey that constituted radiographs of the chest, pelvis, limbs and dorsolumbar spine. The bones showed a uniformly increased radiodensity with the lack of clear distinction between cortical and cancellous bone [Figures 2b and 3a and 3b]. Increased sclerosis was noted at the upper and lower borders of the vertebrae giving a pathognomonic Rugger-Jersey spine appearance [Figure 4]. Considering these characteristic radiographic findings in an asymptomatic 14-year-old, a diagnosis of osteoporosis – tarda variety was rendered. Furthermore, a thorough pediatric evaluation of the patient was unrevealing. A complete hemogram divulged no abnormalities. Biochemical analysis disclosed normal serum calcium and phosphorus levels. Marked elevation of alkaline phosphatase (1, 177.6 IU/L) documented to occur in osteopetrosis was noted. Since the patient was asymptomatic, no therapeutic interventions were made. The patient has been educated about the nature of the disease and its probable complications. He is currently under close follow-up. Discussion Osteopetrosis eponymously known as Albers-Schonberg disease, marble bone disease, and osteopetrosis generalisata