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

Priyanka Kant,Neelkamal Sharda,Rahul R Bhowate

doi:10.1155/2013/707343

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.”

Highlights

The term osteopetrosis is derived from the Greek word “osteo” meaning bone and “petros” meaning stone
Due to therarity of the disease and paucity of reported cases of autosomal dominant osteopetrosis type II in the literature, the purpose of this paper is to report a case of ADO type II in a 35-year-old female patient
Benign osteopetrosis is a rare disorder, which might be characterized by an asymptomatic clinical picture

Summary

Introduction

The term osteopetrosis is derived from the Greek word “osteo” meaning bone and “petros” meaning stone. Osteopetrosis is referred to as “marble bone disease” and “AlbersSchonberg disease”, after the German radiologist credited with the first description of the condition in 1904 [1]. Osteopetrosis comprises a clinically and genetically heterogeneous group of conditions that share the hallmark of increased bone density on radiographs. The increase in bone density results from abnormalities in osteoclast differentiation or function [2]. Dysfunctional osteoclasts that are observed in osteopetrosis result in bony overgrowth, 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 [3, 4]

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Discussion

Conclusion