PRESENTATION AND CLINICAL FEATURES
A 17-year-old male visited the Oral and Maxillofacial Surgery Department due to swelling on the right side of his face persisting for 6 months. He experienced intermittent fever during this period. There were no signs of any discharging sinus. Upon examination, the swelling felt soft to firm, and there was a slight elevation in skin temperature over the affected area. To conduct a thorough evaluation, a contrast-enhanced computed tomography of the face was recommended (Figure 1).
Figure 1.
A computed tomography of the face in bone window setting reveals a lytic-sclerotic lesion with cortical destruction and sequestrum formation in the right hemimandible, particularly affecting the root of the molar tooth (highlighted by a red arrow in images a and b). Additionally, other bones exhibit diffuse sclerosis (indicated by a white arrow in image c). Sections of the cervical spine exhibit end plate sclerosis of the vertebral bodies, characterised by the “sandwich vertebra” sign (highlighted by a yellow arrow in image d).
What is the most likely diagnosis?
What will be your next step?
Answer
Osteopetrosis with mandibular osteomyelitis.
Taking detailed family history and performing skeletal survey.
DISCUSSION
Osteopetrosis, a genetic bone disorder, is characterised by a thickened cortex and a narrow medullary canal due to abnormal osteoclast activity. It is also known as Albers–Schönberg disease or marble bone disease, first described by German radiologist Albers–Schönberg in 1904. There are two recognised forms: autosomal recessive and autosomal dominant [1,2].
Chronic osteomyelitis is a common complication of osteopetrosis, occurring in approximately 10% of the population [3]. Patients typically present with long-standing facial swelling accompanied by a discharging sinus. Chronic jaw pain and intermittent fever may also be present, with underlying dental infection as a major risk factor. Diagnosis is usually based on clinical, laboratory and radiological findings [4].
In this particular case, a 17-year-old male presented with complaints of right-sided facial swelling persisting for 6 months, along with intermittent fever. No evidence of sinus opening or pus discharge was noted. A contrast-enhanced computed tomography of the face was recommended, revealing lytic-sclerotic lesions with cortical destruction and sequestrum formation in the right hemimandible involving the root of the molar tooth. Similar lesions were observed on the left side of the maxilla, with associated mild soft tissue edema. Cervical spine sections showed end plate sclerosis of the vertebral bodies, presenting the “sandwich vertebra” sign, while the remaining visualised bones exhibited diffuse sclerosis (Figure 1). A diagnosis of chronic osteomyelitis of the jaw in a patient with osteopetrosis was established based on clinical and radiological findings. Further investigation, including a detailed past and family history, revealed frequent fractures in long bones and similar complaints in the patient’s elder brother. A skeletal survey confirmed characteristic radiographic features of osteopetrosis (Figure 2).
Figure 2.
A skeletal survey showing characteristic radiographic features of osteopetrosis, specially Erlenmeyer flask deformity in long bones (white arrow in c).
The management of chronic osteomyelitis in osteopetrosis patients involves a multimodal approach, including tailored antibiotic therapy targeting identified pathogens, surgical intervention for debridement of necrotic bone and abscess drainage, and adjunctive therapies such as hyperbaric oxygen therapy to promote wound healing and combat infection. However, due to the complex nature of osteopetrosis-associated osteomyelitis and the underlying bone pathology, achieving a cure may be challenging, with recurrence of symptoms being common. Close monitoring and long-term follow-up are essential to manage complications, prevent disease progression and optimise patient outcomes [5,6].
In conclusion, chronic osteomyelitis in osteopetrosis presents a complex clinical scenario requiring a multidisciplinary approach involving orthopedic surgeons, infectious disease specialists and maxillofacial surgeons. Comprehensive evaluation, tailored antibiotic therapy and surgical intervention are crucial in managing this challenging condition and improving patient quality of life.
CONFLICTS OF INTEREST
The authors declare no conflict of interest.
FUNDING
None.
ETHICAL APPROVAL
Signed informed consent for participation and publication of medical details was obtained from the parents of this child. Ethics clearance and approval of publication were granted by our institute.
References
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