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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 30  |  Issue : 2  |  Page : 165-168

Clinical spectrum of osteopetrosis with secondary osteomyelitis of the mandible: Report of two cases


Department of Oral Medicine and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai, Tamil Nadu, India

Date of Submission21-Feb-2018
Date of Acceptance15-May-2018
Date of Web Publication16-Jul-2018

Correspondence Address:
Dr. Manoharan Preethi
Department of Oral Medicine and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai - 600 003, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.jiaomr_20_18

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   Abstract 


Osteopetrosis is an inherited disorder of the bone caused by mutations in gene that encode for carbonic anhydrase. This results in defective osteoclast function leading to resorption defects and formation of bones that are extremely dense and prone to fractures. In addition, it causes a variety of clinical manifestations in endocrine, nervous, orthopedic, hematologic, nephrologic, and dental. Among dental manifestations, osteomyelitis is the most serious complication caused by compromised blood supply resulting from encroachment of the medullary spaces by cortical bone. There are three subtypes of the disease—an autosomal dominant form also known as Albers–Schonberg disease or ADO II, malignant recessive infantile form, and an intermediate form. The ADO II can have an extremely varied clinical presentation ranging from an accidental finding from routine radiographic examination to poor prognosis. Here, we present two cases of ADO II with varied clinical, radiographic, and biochemical manifestations and discuss their management and dental implications.

Keywords: Absorptiometry, bone density, osteomyelitis, osteopetrosis


How to cite this article:
Jayachandran S, Preethi M. Clinical spectrum of osteopetrosis with secondary osteomyelitis of the mandible: Report of two cases. J Indian Acad Oral Med Radiol 2018;30:165-8

How to cite this URL:
Jayachandran S, Preethi M. Clinical spectrum of osteopetrosis with secondary osteomyelitis of the mandible: Report of two cases. J Indian Acad Oral Med Radiol [serial online] 2018 [cited 2020 Jan 29];30:165-8. Available from: http://www.jiaomr.in/text.asp?2018/30/2/165/236723




   Introduction Top


Osteopetrosis is a rare inherited disorder grouped under sclerosing bone dysplasias, characterized by marked increase in density of skeleton. It can be of the common autosomal dominant form (ADO II) with an incidence of 1 in 20,000 and variable prognosis, a malignant autosomal recessive form that is fatal in the 1st year of life and an intermediate form. It has widespread systemic effects and dental manifestations.[1] Of the dental complications, osteomyelitis of the mandible is the most common and serious due to compromised blood supply causing avascular necrosis and infection after tooth extraction.[2] Here we present two case reports of ADO II osteopetrosis with secondary osteomyelitis of the mandible with varied clinical, radiological, biochemical presentation, and discuss treatment planning and preventive measures.


   Case Reports Top


Case 1

A 22-year-old female reported to the Department of Oral Medicine and Radiology with chief complaints of pain, swelling, and pus discharge in right lower jaw for 1 week. History revealed extraction of lower right tooth 1 year ago for pain with persistent swelling. General examination revealed a dolicocephalic head, blindness, exophthalmos, frontal bossing with features of anemia. Extraorally, a well-defined tender firm swelling with sinus and pus discharge over right mandibular body and intraoral examination of unhealed extraction socket in 46 region, partial anodontia with microdontia of existing teeth were found [Figure 1]a,[Figure 1]b,[Figure 1]c. Digital Orthopantomogram revealed fracture of the right body mandible and sclerosis of the maxilla, CT revealed a fracture of the right body mandible with hyperintense sequestrum surrounded by a radiolucent rim, PA view skull revealed increased thickness with sclerosis of the cranial base and spine radiograph revealed bone within bone “rugger jersey” appearance with sclerosis of the vertebral end plates [Figure 2]a,[Figure 2]b,[Figure 2]c,[Figure 2]d,[Figure 2]e. A radiological diagnosis of osteopetrosis with secondary osteomyelitis of the mandible was made. Hematologic and biochemical investigations revealed Hb of 4.7 gm/dl and normal hemogram, serum calcium, phosphorous, alkaline phosphatase with borderline acid phosphatase level of 9 U/L. Pus culture showed growth of Klebsiella pneumoniae Scientific Name Search  with sensitivity to amikacin, ofloxacin, tazobactam, and gentamicin. Surgical debridement was not planned for complications related to surgical opening. Patient was symptomatically treated with ofloxacin 200 mg thrice daily. Patient is under regular follow-up.
Figure 1: (a) Unhealed extraction socket of 46 (b) Partial anodontia and microdontia (c) Extraoral fistula with pus discharge

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Figure 2: (a) OPG showing discontinuity in cortex of mandible (b) Coronal CT showing hyperintense sequestrum surrounded by hypointense rim and break in cortex (c) Lateral skull view showing sclerosis of cranial base(d and e) Spine radiograph showing “Rugger Jersey” and “Sandwich vertebrae” due to sclerosis of vertebral end plates

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Case 2

An 11-year-old female reported to the Department of Oral Medicine and Radiology with chief complaints of swelling in right lower jaw for 2 months. History revealed extraction of lower right molar 2 months ago with eventual swelling and no pus discharge. On examination, a limping gait with normal facial features, a hard, diffuse, tender swelling in right body of mandible with unhealed socket, and exposed bone in 85 and 75 regions was found [Figure 3]a,[Figure 3]b,[Figure 3]c,[Figure 3]d. OPG revealed sclerosis of the maxilla and lytic changes in 75 and 85 regions with CBCT revealing a hyperintense sequestrum surrounded by osteolytic area in 85 and 75 regions [Figure 4]a,[Figure 4]b,[Figure 4]c with complete obliteration of maxillary sinus [Figure 5]a. PA view skull revealed “hair on end appearance” with increased thickness of skull bone. Radiograph spine revealed “rugger jersey spine” and bone-in-bone appearance and skeletal survey revealed fracture of hip bones [Figure 5]b,[Figure 5]c,[Figure 5]d. A radiological diagnosis of osteopetrosis with secondary osteomyelitis of the jaw was made. Hematologic and biochemical investigations revealed a microcytic hypochromic anemia with Hb of 7.7 mg/dl, normal serum calcium, phosphorous, parathormone, alkaline phosphatase with significantly elevated levels of acid phosphatase of 49.4 U/L. Dual energy x-ray absorptiometry (DXA) of the patient revealed an increase in bone density of the lumbar spine and hip bones with a Z score of 7.3 and 6.0 (normal Z = 0.3 to −2.1) [Figure 6]a,[Figure 6]b,[Figure 6]c,[Figure 6]d.[3] The patient was surgically treated with sequestrectomy and saucerization under antibiotic coverage. Patient responded to treatment and is under regular follow-up.
Figure 3: (a) Exposed bone in unhealed extraction socket 85 region (b) Exposed bone in 75 region (c) Normal complement of maxillary teeth (d) Extraoral firm diffuse tender hard swelling

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Figure 4: (a) OPG showing lytic changes in 75 and 85 regions (b) Axial CBCT showing hyperintense sequestrum surrounded by hypointense rim in 75 and 85 regions(c) 3D CBCT reconstructed image showing lytic changes in B/L mandibular body

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Figure 5: (a) Axial CBCT—complete obliteration of B/L maxillary sinus (b) X-ray hip bone—fracture of femur neck (c) X-ray spine: increased sclerosis of vertebral end plates showing “Rugger Jersey” appearance (d) PA skull— “Hair on end” appearance with sclerosis of cranial base

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Figure 6: (a) Dual energy x-ray absorptiometry (DXA) image of the lumbar spine (b and c) DXA image of right and left hip (d) Z score of DXA scan

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   Discussion Top


Osteopetrosis of bone was first described by Heinrich Albers Schonberg in 1904 as “marble bone disease” due to its typical radiographic appearance. It is an inherited osteoclastic disorder with mutations in CLCN7, TGIRG1 genes causing defective carbonic anhydrase II enzyme function in osteoclasts.[4] The osteoclasts are unable to form ruffled border resulting in defective bone resorption and accumulation of old bone causing increased density and tendency for fractures.[5] The ADO II form also known as Albers–Schonberg disease is the most common and can have varied clinical presentation ranging from poor prognosis to being diagnosed unexpectedly from radiographs. Varied presentation in both the reported cases are compared [Table 1].
Table 1: Varied presentation of osteopetrosis

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Clinical features include nerve palsies, anemia with hepatosplenomegaly due to extramedullary hemopoiesis, hydrocephalus, mental retardation, facial appearance with widely set eyes, flattened nose, and frontal bossing.[6] Dental manifestations include tooth agenesis, failure of eruption, malformed crowns and roots, thickened lamina dura, presence of odontomes, and most commonly osteomyelitis of mandible.[1] The common cause for fracture and osteomyelitis is attributed to encroachment of vessels in medullary spaces causing compromised vascularization of the bone resulting in mechanically weak bone susceptible to infection.[6] The levels of serum calcium, phosphorous, alkaline phosphatase are within normal limits with elevated acid phosphatase.

Though the disease has a myriad of clinical and biochemical presentations, presence of characteristic radiological features is the minimum criteria needed to establish the diagnosis.[1] The classical radiographic features include sclerosis of skull, spine, pelvis, and appendicular bones, metaphysic long bone defects causing “Erlenmeyer flask deformity,” “bone in bone” appearance of the vertebrae giving rise to “sandwich” vertebrae and “rugger-jersey” spine. Radiologically osteopetrosis can be type I with increased sclerosis of cranial wall and type II with increased sclerosis of cranial base. Other radiologic investigations in osteopetrosis include computed tomography, DXA, and Tc-methylene disphosphonate whole body scan supplemented with single-photon emission computed tomography. Magnetic resonance imaging (MRI) is used in advanced cases of osteopetrosis to determine the level of bone marrow obliteration.[7] The most recent radiologic investigation is high-resolution peripheral quantitative computed tomography (HR-pQCT) and it attributes the risk of fracture due to repeated bone formation without repair of areas of micro damage.[8] However, DXA scan is the best recognized densitometric method approved by WHO to measure bone mineral density (BMD) to assess fracture risk in osteoporosis and osteopenia. The advantages include ease of operation with short exposure time and minimal radiation exposure of one tenth that of a standard chest x-ray with cases of osteopetrosis showing increased bone mineral density when compared to standard.[9] The mainstay systemic treatment for osteopetrosis include calcium, calcitriol, interferon gamma, corticosteroids, erythropoietin, and human stem cell transplant.[1],[10]


   Conclusion Top


As osteopetrosis cannot be prevented, dental considerations are important to prevent common complications such as osteomyelitis. As radiological diagnosis is the bare minimum for establishing its presence, the dentist must be cautious to plan extraction and surgeries. Preventive measures like good oral hygiene, caries preventive measures, restorative treatment, and topical fluoride can be advocated. Extraction and surgical procedures should be avoided for complications related to osteomyelitis and fracture, if absolutely necessary must be done under strict antibiotic coverage.

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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, et al. Diagnosis and management of osteopetrosis: Consensus Guidelines from the Osteopetrosis Working Group. J Clin Endocrinol Metab2017;102:3111-23.  Back to cited text no. 1
    
2.
Lam DK, Sandor GK, Holmes HI, Carmichael RP, Clokie CM. Marble bone disease: A review of osteopetrosis and its oral health implications for dentists. J Can Dent Assoc2007;73:839-43.  Back to cited text no. 2
    
3.
Ma J, Siminoski K, Alos N, Halton J, Ho J, Lentle B, et al. The choice of normative pediatric reference database changes spine bone mineral density Z-scores but not the relationship between bone mineral density and prevalent vertebral fractures. J Clin Endocrinol Metab2015;100:1018-27.  Back to cited text no. 3
    
4.
Jayachandran S, Kumar MS. A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports. Indian J Dent Res 2016;27:667-71.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone 2008;42:19-29.  Back to cited text no. 5
    
6.
Smith NH. Albers-Schönberg disease (osteopetrosis). Oral Surg Oral Med Oral Pathol1966;22:699-710.  Back to cited text no. 6
    
7.
Sit C, Agrawal K, Fogelman I, Gnanasegaran G. Osteopetrosis: Radiological and radionuclide imaging. Indian J Nucl Med 2015;30:55.  Back to cited text no. 7
[PUBMED]  [Full text]  
8.
Arruda M, Coelho MC, Moraes AB, de Paula Paranhos-Neto F, Madeira M, Farias ML, et al. Bone mineral density and microarchitecture in patients with autosomal dominant osteopetrosis: A report of two cases. Bone Miner Res 2016;31:657-62.  Back to cited text no. 8
    
9.
El Maghraoui A, Roux C. DXA scanning in clinical practice. QJM2008;101:605-17.  Back to cited text no. 9
    
10.
Jayachandran S, Mohamed Riyaz SS, Kayal L. Benign osteopetrosis with secondary osteomyelitic changes in the mandible: A report of two rare cases. J Indian Acad Oral Med Radiol2009;21:25.  Back to cited text no. 10
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

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