Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

Abstract

Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.”

Oral and Radiographic Findings of a Patient with Osteopetrosis: A Rare Case Report

“…Patients are also advised to rinse their mouth with 0.2% chlorhexidine gluconate mouth wash twice daily and topical fluoride application. On regular follow-up visits every 6 months, the patient showed no evidence of fractures and osteomyelitis affecting any bone, no signs of cranial nerve involvement and no dental caries and abscesses (Kant et al, 2013).…”

“…Dysfunctional osteoclasts that are observed in Osteopetrosis result in bony over growth, leading to bones that are abnormally dense and brittle. It is believed that osteoclasts fail to release the necessary lysosomal enzymes for bone resorption into the extracellular space (Kant et al, 2013).…”

“…The treatment is largely supportive and is aimed at providing multidisciplinary surveillance and symptomatic management of complications (Kant et al, 2013). The best therapeutic approach for patients with osteopetrosis is preventive managements and oral hygiene 22 International Journal of Medicine and Pharmacy, Vol.…”

“…Osteopetrosis is a group of rare hereditary skeletal disorders with variable clinical features which are characterized by a marked increase in bone density and reduction of marrow spaces, resulting from a defect in remodeling of bone, caused by the failure of normal osteoclasts to function and consequently resulting in a decrease in bone turnover (Kant et al, 2013). The incidence in infant is 5/1,000,000 live births without any gender predisposition (Diniz et al, 2015).…”

“…The third benign-type is characterized by a later onset and a longer life span (Kant et al, 2013). Adult Osteopetrosis may clinically exist in two major variants.…”