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Year : 2018  |  Volume : 7  |  Issue : 3  |  Page : 236-239

Maxillary osteomyelitis in Albers-Schönberg disease: A rare presentation

Department of Radiodiagnosis, Maharajah's Institute of Medical Sciences, Nellimarla, Vizianagaram, Andhra Pradesh, India

Date of Web Publication17-Sep-2018

Correspondence Address:
Dr. Borra Venkata Naga Koti Jyothi Pavan
Department of Radiodiagnosis, Maharajah's Institute of Medical Sciences, Nellimarla, Vizianagaram, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-8632.241279

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Osteopetrosis (Albers-Schönberg disease) is a rare congenital disorder in which the bones become overly dense. This results from an imbalance between the formation of bone and the breakdown of bone. Osteomyelitis is well-documented as a complication of osteopetrosis. Decreased vascularity of the involved bones predisposes the patient to the development of osteomyelitis. Several case reports have been published of infectious complications affecting the mandible but maxillary infection is quite rare. This discusses a case of osteopetrosis with maxillary osteomyelitis as a complication in a 13-year-old boy.

Keywords: Maxilla, osteomyelitis, osteopetrosis

How to cite this article:
Pavan BV, Kejriwal GS, Kumar BL. Maxillary osteomyelitis in Albers-Schönberg disease: A rare presentation. J NTR Univ Health Sci 2018;7:236-9

How to cite this URL:
Pavan BV, Kejriwal GS, Kumar BL. Maxillary osteomyelitis in Albers-Schönberg disease: A rare presentation. J NTR Univ Health Sci [serial online] 2018 [cited 2022 Dec 3];7:236-9. Available from: https://www.jdrntruhs.org/text.asp?2018/7/3/236/241279

  Introduction Top

Osteopetrosis is a very rare form of inherited bone disorder due to defective osteoclastic resorption of the primary spongiosa of bone and defective remodeling. This results in overgrowth and sclerosis of the bone causing thickening of cortices and narrowing of marrow spaces. Globally the estimated prevalence of osteopetrosis is 1 in 100,000-500,000.[1] Patients with this disease seem to be especially susceptible to osteomyelitis of the mandible.[2] Maxillary involvement is rare due to thin cortical bone and rich collateral blood supply. We report here a case presenting with maxillary osteomyelitis which led to the diagnosis of osteopetrosis.

  Case Report Top

A 13-year-old boy presented with fever, pain and swelling over the right cheek with a discharging sinus in the infra-orbital region since 1 month. History revealed previous similar episodes since 2 years. There is no history of trauma or tooth extraction and no relevant family history. On general examination, there is severe pallor, significant enlargement of submandibular and posterior-auricular lymph nodes. Abdomen is distended with mild hepatomegaly and moderate splenomegaly. Bowing deformity of both lower limbs is noted. There are no visual or hearing defects. On local examination, there is diffuse, irregular swelling over the right maxilla and zygoma, which is erythematous and tender. Swelling is bony hard in consistency. There is puckered appearance and discoloration around the infra-orbital discharging sinus [Figure 1]. Intraoral examination revealed no dental abnormalities or discharging sinuses but only slight mobility of the right molar teeth. Laboratory data showed decreased hemoglobin percentage (5.6 g %) with elevated erythrocyte sedimentation rate (30 mm/1st h) and alkaline phosphatase (134 IU/L). Serum calcium (4.0 mg/dl) and serum phosphorous (4.1 mg/dl) are within normal limits. Radiographs of the skull, spine, and limbs showed generalized increase in bone density, sclerosis of the skull base prominently in anterior cranial fossa [Figure 2], sclerotic endplates of vertebral bodies and “Erlenmeyer flask” deformity of femur and tibia [Figure 3]. Bone in bone appearance [Figure 4] is noted in the short bones of the hand. Paranasal sinus radiograph revealed absent frontal sinuses, obliterated, and sclerotic both maxillary sinuses.
Figure 1: Diffuse swelling noted over the right cheek with a discharging sinus in the infra-orbital area

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Figure 2: Sclerosis of skull base predominantly involving the anterior cranial fossa

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Figure 3: Radiographs of thigh and leg showing Erlenmeyer flask deformity of the distal ends of femur and tibia

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Figure 4: Hand radiograph showing bone in bone appearance of the metacarpals and phalanges

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Radiolucent sinus tract [Figure 5] is noted in the right maxilla extending into the infra-orbital region. Computed tomography of the skull depicted irregularity of the margins of right maxillary sinus with multiple destructive areas [Figure 6] extending throughout from alveolar surface to orbital plate. There is a thick sheath of periosteal reaction [Figure 7] surrounding with adjacent thickened soft tissue planes and edema of subcutaneous planes over the right maxilla [Figure 8]. A wide sinus tract is seen passing through the right maxillary sinus is extending superiorly into the floor of the orbit, where the medial part of infra-orbital ridge is destructed [Figure 9]. Ultrasound abdomen confirmed hepato-splenomegaly. Correlating the radiologic findings, the boy has been diagnosed as a case of osteopetrosis with osteomyelitis of the right maxilla. As the patient's parents refused for the operative intervention (sinus tract excision and necessary extraction), he was treated conservatively with systemic antibiotics and blood transfusions for the associated anemia. He responded well and was discharged after relieving from the acute episode and considerable increase in hemoglobin percentage.
Figure 5: Paranasal sinus radiograph shows a radiolucent line (sinus tract-arrow) passing through the right maxillary sinus extending superiorly into medial part of orbital plate

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Figure 6: Coronal computed tomography showing irregular margins and permeative destruction of right maxilla

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Figure 7: Wide sinus tract (red arrow) extending superiorly and thick sheath of periosteal reaction (black arrow) surrounding destructed right maxilla

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Figure 8: Axial computed tomography showing edematous subcutaneous planes over the right maxilla (red arrow) and thickened soft tissue planes (black arrow) surrounding the right maxilla

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Figure 9: Volumetric computed tomography shows destruction of medial part of inferior orbital ridge (arrow) corresponding to the sinus opening in the infra-orbital area

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  Discussion Top

Osteopetrosis was first described by Albers-Schönberg in 1904, and in sometimes referred to as marble bone disease, osteopetrosis generalisita and osteosclerosis fragilis generalisata. It is caused by defective osteoclast function and represents a spectrum of skeletal abnormalities characterized by generalized increase in density of bone.[3]

It is classified into, infantile malignant type: Which is fatal within first few years of life, intermediate type: Appears during the first decade of life but does not follow malignant course, autosomal dominant type: Type 1 and type 2 with full life expectancy but many orthopedic problems.[4]

Radiographic examination plays a vital role in the diagnosis of osteopetrosis. There is increased radio-opacity of the entire skeleton, resulting in diffuse homogenous and sclerotic bones. There is a lack of cortico-medullary differentiation.

In the skull, particularly the base is involved especially in relation to anterior cranial fossa, the paranasal sinuses and mastoid air cells are poorly developed. There is narrowing of the foramina of the skull, leading to compression of cranial nerves and blood vessels. Dental findings include delayed eruption, early tooth loss, impacted teeth, malformed teeth, and thickened lamina dura.[5]

The vertebral column has a “sandwich” or “rugger-jersy” appearance with dense sclerotic bone at each endplates of the vertebral body. Spondylosis of the lumbar spine has been reported.[6]

A “bone within a bone” may be seen in small bones of the hands but with increased density around the periphery.

Long bones have an “Erlenmeyer flask” deformity at their ends due to failure of metaphyseal remodeling. Vertical lucencies extending to metaphysis are present probably due to vascular channels being better seen against dense bone. At the metaphysis there are alternating transverse bands of translucencies and sclerosis due to episodes of remission and exacerbation of the disease process.

The differential diagnosis that can be considered includes other sclerosing bone dysplasias, such as pyknodysostosis, craniometaphyseal dysplasia, diaphyseal dysplasia, melorheostosis, osteopoikilosis, and osteopathia striata. Fluoride poisoning and secondary hyperparathyroidism from renal osteodystrophy also may produce a diffuse osteosclerosis. The most common complication in osteopetrosis is pathologic fractures, those with congenital presentation are likely to have more fractures. Femoral shaft fractures either with transverse or short oblique pattern are more common. Bowing of long bones and coxa vara may be present due to multiple fractures.[6]

Osteomyelitis is a well-recognized complication of osteopetrosis due to compromised vascularity and associated anemia and neutropenia. In some cases, osteomyelitis may be the first presentation of this disease, as in our case. Osteomyelitis secondary to osteopetrosis is mostly refractory to various treatment modalities like incision and drainage, antibiotic therapy and surgical sequestrectomy and decortications. High dose and prolonged systemic antibiotic therapy with flouroquinolones and lincomycin are considered to be helpful.[7],[8] Surgical intervention is limited to necessary extraction with antibiotic coverage, incision and drainage and positive palliative debridement.

Treatment of osteopetrosis consists of stimulating osteoclasts or providing alternative source of osteoclasts.[9] Bone marrow transplant is the only hope for treating malignant osteopetrosis. Limited intake of calcium and vitamin D can stimulate the production of osteoclasts.[10]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Malik P, Punia H, Aggarwal A. Osteopetrosis: A case report. J Dent Sci 2010;2:24-6.  Back to cited text no. 1
Ahmad I, Abbas SZ, Haque F, Rashid M, Ahmad SA. Osteomyelitis of mandible: A rare presentation of osteopetrosis. Indian J Radiol Imaging 2006;2:253-6.  Back to cited text no. 2
Lazner F, Gowen M, Pavasovic D, Kola I. Osteopetrosis and osteoporosis: Two sides of the same coin. Hum Mol Genet 1999; 8:1839-46.  Back to cited text no. 3
Filho AM, de Castro Domingos A, de Freitas DQ, Whaites EJ. Osteopetrosis – A review and report of two cases. Oral Dis 2005; 11:46-9.  Back to cited text no. 4
Rao VM, Dalinka MK, Mitchell DG, Spritzer CE, Kaplan F, August CS, et al. Osteopetrosis: MR characteristics at 1.5 T. Radiology 1986;161:217-20.  Back to cited text no. 5
Bénichou OD, Laredo JD, de Vernejoul MC. Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): Clinical and radiological manifestations in 42 patients. Bone 2000;26:87-93.  Back to cited text no. 6
Er N, Kasaboglu O, Atabek A, Oktemer K, Akkocaoglu M. Topical phenytoin treatment in bimaxillary osteomyelitis secondary to infantile osteopetrosis: Report of a case. J Oral Maxillofac Surg 2006;64:1160-4.  Back to cited text no. 7
von Rosenstiel N, Adam D. Quinolone antibacterials. An update of their pharmacology and therapeutic use. Drugs 1994;47:872-901.  Back to cited text no. 8
Kocher MS, Kasser JR. Osteopetrosis. Am J Orthop (Belle Mead NJ) 2003;32:222-8.  Back to cited text no. 9
Mohn A, Capanna R, Delli Pizzi C, Morgese G, Chiarelli F. Autosomal malignant osteopetrosis. From diagnosis to therapy. Minerva Pediatr 2004;56:115-8.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]


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