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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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Year : 2008  |  Volume : 26  |  Issue : 7  |  Page : 125-128

Osteomyelitis in infantile osteopetrosis: A case report with review of literature

1 Mahathma Gandhi Dental College & Hospital, Jaipur, Rajasthan, India
2 Department of Oral Medicine and Radiology, A. B. Shetty Memorial Institute of Dental Sciences, Deralakatte, Mangalore, India

Correspondence Address:
R K Roopashri
Department of Oral Medicine and Radiology, A.B. Shetty Memorial Institute of Dental Sciences, Mangalore-575 018
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Source of Support: None, Conflict of Interest: None

PMID: 19127031

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Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption and remodeling. Dental abnormality may be attributed to pathological changes in bone remodeling. Osteomyelitis is well documented as a complication of osteopetrosis. This disease can be severe and difficult to treat in the osteopetrotic patient. This is a case of 10-year-old girl previously diagnosed as suffering from osteopetrosis and presenting with the complaint of swelling of jaw with extra-oral draining sinus.

Keywords: Osteomyelitis, osteopetrosis

How to cite this article:
Roopashri R K, Gopakumar R, Subhas B G. Osteomyelitis in infantile osteopetrosis: A case report with review of literature. J Indian Soc Pedod Prev Dent 2008;26, Suppl S3:125-8

How to cite this URL:
Roopashri R K, Gopakumar R, Subhas B G. Osteomyelitis in infantile osteopetrosis: A case report with review of literature. J Indian Soc Pedod Prev Dent [serial online] 2008 [cited 2022 Aug 10];26, Suppl S3:125-8. Available from: http://www.jisppd.com/text.asp?2008/26/7/125/44835

   Introduction Top

Osteopetrosis (OP) is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption (osteoclastic activity) and remodeling. Also known as marble bone disease because of the dense rock-like appearance of the bone ( osteo means bone; petros means stone) or Albers-Schonberg disease (named after the German radiologist who in 1904 described a 26-year-old man with generalized sclerosis of the skeleton with multiple fractures). The incidence of OP is thought to be 1 in 100,000 to 1 in 500,000. OP exhibits a vast spectrum of clinical, physiologic, and genotypic expressions. [1],[2]

Osteomyelitis is well documented as a complication of OP. This disease can be severe and difficult to treat in the osteopetrotic patient. Treatment may include disfiguring procedures involving surgical removal of affected facial and skeletal bones. The purpose of this article is to present a case of OP with osteomyelitis of mandible and comprehensive review of its classification, pathophysiology and diagnosis.

   Case Report Top

A 10-year-old girl reported with the complaint of swelling, pain and pus discharge from the mandible, of 3 months duration. History revealed multiple episodes of similar symptoms. She was born blind and had epileptic attacks within a week after birth. Her milestones were delayed and she had also had frequent fractures (about 10 times), with the first episode being at the age of 1 year. Then she was diagnosed to be suffering from osteopetrosis. She had noisy breathing and experienced difficulty in micturition and defecation. She was able to walk only few steps and undergoes blood transfusion once in every 6 months. Her younger brother was also born blind and had a few episodes of fractures.[Additional file 1]

General Examination revealed proportionate short stature (Ht - 99 cm, wt - 18 kg) with bowed legs. Abdomen was distended with palpable liver and spleen. Head and neck examination revealed dolicocephalic skull, proptosis [Figure 1] with alternating convergent squint, flattened malar eminence, loss of nasolabial fold and deviation of mouth to left with positive Bell's sign suggestive of facial palsy [Figure 2]. An ill defined, diffuse swelling was present at submental and submandibular region with a pus draining sinus around which there was an erythematous area with crustations [Figure 3]. Mouth opening was restricted. Intra oral examination revealed broad edentulous ridges with only 3 teeth present. The tooth at lower right posterior region was grossly decayed. Hematological profile showed a decrease in platelet number and mild increase in eosinophils. Serum chemistry did not reveal any significant findings.

Radiographic investigation revealed diffuse sclerosis of bones. Panoramic radiograph showed sclerosed jawbones and maxillary sinuses. Multiple unerupted, malformed teeth were seen in mandible [Figure 4]. Chest radiograph revealed chalky appearance of bones [Figure 5]. Vertebrae were notched [Figure 6] and pelvic bone showed bone-in-bone appearance [Figure 7]. Skull radiograph revealed thickened skull base and sclerotic orbital wall with a "space alien" / "mask like appearance" [Figure 8],[Figure 9]. As exact extensions of the lesion could not be made out, CT imaging was done, which showed generalized and homogeneous increase in bone density, with a hypodense area in the left of the mandible suggestive of bone sequestrum [Figure 10],[Figure 11]. Correlating the radiographic features with the clinical features, the case was diagnosed as chronic suppurative osteomyelitis of mandible in a child with infantile malignant OP. Sinus tract excision and curettage of lesion was done subsequently.

   Discussion Top

OP is a family of extremely rare bone disorders caused by defective osteoclast function and represents a spectrum of skeletal abnormalities characterized by a generalized increase in the density of bone. [3]

Classification and Pathophysiology

Four types of osteopetrosis have been described;

A. Severe infantile - malignant type which is associated with mutations in the TCIRG and C1CN7 genes. Begins in utero and is diagnosed within the first year of birth. Features are severe and patients do not usually survive beyond the age of 20 years.

B. Osteopetrosis with renal tubular acidosis and cerebral calcifications which is associated with a deficiency of carbonic anhydrase II (CA II) and mutations in the gene encoding the CA II protein. This manifests in early childhood but spontaneous regression may be seen.

C. Benign autosomal dominant type whose causative gene still needs to be identified in the chromosome 11q12-13 region. The patients do not usually present with any symptoms, and are detected on routine radiographs.

D. Intermediate mild autosomal recessive type present with the clinical features of either the infantile manifestation or asymptomatic. It consists of an autosomal recessive mode of inheritance and appears as diffuse osteosclerosis. [1]

According to animal models of osteopetrosis, different genes have been proposed, based on nature and severity of post mutation osteopetrotic phenotype, along the osteoclast differentiation /functional pathway. [3] [Additional file 2]

In infantile malignant OP, skeletal abnormalities are obvious at birth and symptoms from several organs present within weeks. In the reported case, the patient was blind and had facial palsy owing to the compression of optic and facial nerves. Enlarged cranial bones give the head a characteristic appearance, with a large, rounded forehead. The eye sockets are shallow, making the eyes protrude. The nose is often flat, decreasing the size of the nasal cavity and leading to frequent congestion, as was seen in our patient. The head and body are unusually heavy, and balance problems may result. Sitting up is often difficult, and these children rarely learn to walk. The change in bone structure is accompanied by a marked tendency towards fragility, and fractures may be sustained even in trivial accidents. As the blood vessels passing through the skull may also be compressed, more generalized neurological symptoms may develop, including developmental delay consistent with the features of our patient. [4],[5]

As teeth develop within the defective bone tissue, both the primary and the permanent dentition are often affected. Most teeth fail to erupt, or tooth enamel may be of poor quality and vulnerable to caries. [4,5] When abnormal bone growth compresses the marrow, pancytopenia develops. There is a high risk of developing severe infections like sepsis, and particularly osteomyelitis typically in mandible. The body to some extent compensates for bone marrow failure by extramedullary hematopoiesis, resulting in hepatosplenomegaly as noted in our case. [4],[5]

A routine x-ray reveals abnormally dense bones. The radiographic findings, compatible with those described in the literature are an overall sclerotic appearance and obliteration of the medullary cavities, thickened cortices in the calvaria with loss of the normal skull markings, gross thickening and increased opacity of the cranial base, increased bone density in the jaws, more commonly in the maxilla, obliteration of paranasal sinuses, notching of vertebrae and unerupted, impacted or missing teeth. [1],[6]

Osteomyelitis secondary to osteopetrosis tends to be refractory because of the reduced blood supply and accompanying anemia and neutropenia. Surgical resection should be planned with caution as osteopetrotic bone has less capacity to heal [7] and these children are at risk of adverse respiratory events and increased perioperative morbidity and mortality as anesthetic complications. [8]

In conclusion, infantile malignant OP is a lethal disease. The difficulty in obtaining conclusive results by sonograpic evaluation of fetus in utero makes prenatal molecular diagnosis highly desirable. [9] Although diagnosis of infantile malignant osteopetrosis is easy and depends mainly on radiographic examination, it is often delayed due to rarity of the disease and lack of clinical suspicion. Osteomyelitis is a well-documented complication of osteopetrosis and is attributed to the adverse effects of osteopetrosis on local tissue vascular perfusion.

   References Top

1.Filho AM, Domingos AC, Freitas DQ, Whaites EJ. Osteopetrosis: A review and report of two cases. Oral Dis 2005;11:46-9.   Back to cited text no. 1    
2.Bakeman RJ, Abdelsayed RA, Sutley SH, Newhouse RF. Osteopetrosis: A review of the literature and report of a case complicated by osteomyelitis of the mandible. J Oral Maxillofac Surg 1998;56:1209-13.  Back to cited text no. 2    
3.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    
4.Neville BW, Damm DD, Allen CM, Bouquot JE. Oral and Maxillofacial Pathology. 2 nd ed. Elsevier publications; p. 535-537.   Back to cited text no. 4    
5.Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. 3 rd ed. Oxford University press; p. 232-4.  Back to cited text no. 5    
6.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. 6    
7.Batra P, Shah N. Recalcitrant osteomyelitis following tooth extraction in a case of malignant osteopetrosis. Int Dent J 2004;54:418-23.  Back to cited text no. 7    
8.Burt N, Haynes GR, Bailey MK. Patients with malignant osteopetrosis are at high risk of anesthetic morbidity and mortality. Anesth Analg 1999;88:1292-7.   Back to cited text no. 8    
9.Kulkarni ML, Marakkanavar SN, Sushanth S, Pradeep N, Ashok C, Balaji MD, et al. Osteopetrosis with Arnold chiari malformation type1 and brain stem compression. Indian J Pediatr 2007;74:412-5.  Back to cited text no. 9    


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11]

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