Management of Osteomyelitis in Autosomal Dominant Osteopetrosis: A Rare Case Report

TL;DR

This case report describes the treatment of a rare bone infection in a patient with a genetic bone disorder, emphasizing the need for early diagnosis and specialized care.

Contribution

The paper presents a rare case of osteomyelitis in a patient with autosomal dominant osteopetrosis and outlines a successful treatment approach.

Findings

Chronic osteomyelitis was diagnosed in the mandible of a patient with autosomal dominant osteopetrosis.

Surgical debridement and targeted antibiotic therapy based on bacterial culture improved the patient's condition.

Histopathological analysis confirmed the presence of both viable and non-viable bone with inflammation.

Abstract

Albers-Schönberg disease, also known as osteopetrosis or marble bone disease, is a rare genetic disorder characterised by increased cortical bone mass due to dysfunctional osteoclast cells. This case report presents a 34-year-old male with autosomal dominant osteopetrosis (ADO), who was referred for evaluation and treatment of a chronic mandibular abscess with associated osteomyelitis and fistula. The patient's medical history included multiple fractures necessitating open reduction and internal fixation. Radiological examinations revealed the presence of chronic osteomyelitis in the mandible, marked by an increase in bone density and obliteration of medullary spaces. The treatment approach included surgical debridement, extraction of adjacent teeth, sequestrectomy, and antibiotic therapy. Notably, Enterobacter cloacae bacteria were identified through culture, leading to a tailored antibiotic regimen. Follow-up assessments, including clinical photographs and postoperative CT scans, were conducted to monitor the patient's progress. Histopathological examination confirmed osteomyelitis showing both viable and non-viable bone, surrounded by significant inflammatory infiltrate. This case underscores the complexity of managing osteomyelitis in patients with osteopetrosis and highlights the importance of early diagnosis, particularly before dental extractions, to prevent disease exacerbation. The rarity of this condition emphasises the need for further research and awareness among healthcare providers for optimal patient care.

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