Indian Journal of Nuclear Medicine
Home | About IJNM | Search | Current Issue | Past Issues | Instructions | Ahead of Print | Online submissionLogin 
Indian Journal of Nuclear Medicine
  Editorial Board | Subscribe | Advertise | Contact
Users Online: 358 Print this page  Email this page Small font size Default font size Increase font size


 
 Table of Contents     
CASE REPORT
Year : 2013  |  Volume : 28  |  Issue : 4  |  Page : 226-229  

Bone scintigraphy in Ollier's disease: A rare case report


1 Department of Nuclear Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
2 Department of General Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
3 Department of Pathology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
4 Department of Neurosurgery, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India

Date of Web Publication25-Nov-2013

Correspondence Address:
Shoukat H Khan
Department of Nuclear Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar - 190 011, Jammu and Kashmir
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-3919.121968

Rights and Permissions
   Abstract 

Ollier's disease is characterized by multiple skeletal enchondroma. There are published data regarding Ollier's disease being associated with vascular malformations and non-skeletal neoplasms. We report a case of Ollier's disease in a young male associated with osteochondroma, low grade glioma in the insular cortex of brain and Gilbert's syndrome. Technetium-99m methylene diphosphonate whole body bone scan is a sensitive investigation to ascertain the complete extent of skeletal involvement particularly the asymptomatic sites.

Keywords: Bone scan, glioma, Ollier′s disease, osteochondroma, technetium-99m methylene diphosphonate


How to cite this article:
Khan SH, Rather TA, Koul PA, Makhdoomi R, Bhat AR, Malik D, Manohar R. Bone scintigraphy in Ollier's disease: A rare case report. Indian J Nucl Med 2013;28:226-9

How to cite this URL:
Khan SH, Rather TA, Koul PA, Makhdoomi R, Bhat AR, Malik D, Manohar R. Bone scintigraphy in Ollier's disease: A rare case report. Indian J Nucl Med [serial online] 2013 [cited 2019 Nov 14];28:226-9. Available from: http://www.ijnm.in/text.asp?2013/28/4/226/121968


   Introduction Top


Ollier's disease characterized by multiple skeletal enchondroma is a rare non-inherited disease of unknown etiology. [1] Majority of the skeletal enchondroma are present in the metaphyses and diaphyses of tubular limb bones. [1] The enchondroma particularly in hands and feet cause focal deformities that sometimes are complicated by pathological fractures, which may result in limb length discrepancies. [2],[3],[4],[5],[6] Maffuci's disease a close variant of Ollier's disease is characterized by soft-tissue hemangiomas and non-skeletal neoplasm in addition to multiple skeletal enchondroma. [7] The other subtypes of Ollier's disease like metachondromatosis, genochondromatosis, spondylochondrodysplasia, dysspondyloenchondromatosis and chierospondyloenchondromatosis are relatively rare. [1] Pathologically enchondroma result from a failure in the enchondral bone formation at the growth plates due to failure of terminal differentiation of growth plate chondrocytes. [8] High resolution computed tomography (CT) scan and magnetic resolution imaging (MRI) have documented additional non-skeletal neoplasm and vascular hemangiomas among patients of conventional Ollier's disease, which otherwise were categorized as de novo Maffuci's disease. [9] It is increasingly believed that Ollier disease, Maffuci's disease and other sub types are part of the spectrum of generalized enchondromatosis. [1]


   Case Report Top


A 35-year-old male patient presented with 1 year history of intermittent headache and giddiness. This was sometimes associated with loss of consciousness and involuntary movements in hands. There was occasional loss of bowel and bladder control. In the past patient gave history of hard swellings in the right hand and lower legs from the age of 9 years. The swellings were biopsied and reported as enchondroma. On and off he sustained fractures in hand swellings after trivial trauma. They were managed conservatively with splints and analgesics. Patient had no other symptoms until 1 year back. There was no family history of similar illness. Systemic examination of the patient was unremarkable. Local examination revealed marked bony deformities with hard swellings in both the hands. Hard swellings were also palpable in the right fore arm and distal ends of both lower limbs. The laboratory profile revealed a normal hemogram, normal kidney function tests and normal serum electrolytes. The fasting blood sugar, serum uric acid, calcium and phosphorus were within the normal limits. Serial serum liver function tests revealed isolated elevation of bilirubin ranging from 2.51 mg/dL to 2.58 mg/dL. Total serum proteins were 6.50 g/dL with albumin fraction of 4.5 g/dL. The coagulogram parameters were within the normal limits. The electrocardiogram was normal. Abdominal ultra-sonogram revealed a Grade I prostatomegaly. X-ray examination showed lytic lesions with sclerosed margins in the metacarpals and phalanges of both hands [Figure 1]. Similar lesions were noted in both the tibia and fibula [Figure 2]. There were two exostosis (osteochondroma) one each at the medial aspects of upper ends of both the tibia [Figure 3]. X-ray skull was reported to be normal. In order to see the extent of skeletal involvement patient underwent a whole body technetium-99m methylene diphosphonate scan on a dual head gamma camera fitted with a low-energy all-purpose collimator. The bone scan revealed multiple foci of intense tracer uptake in sternum, right humerus, right radius, right ulna, right hand, right femur, right tibia, right fibula, left hand, left femur, left tibia, left foot [Figure 4]. The lesions predominantly involved the tubular limb bones sparing the axial skeleton. Bone scan revealed extra sites of involvement at right humerus, sternum and both femoral shafts. Bone scan appearance was reported to be consistent with multiple enchondroma seen in Ollier's disease. A non-contrast CT head showed a well-defined hypo-dense lesion with no evidence of perilesional edema in left insular cortex. MRI revealed a well-defined lesion with no perilesional edema in left insular area that was hypo-intense on T1-W image [Figure 5] and hyper-intense on T2-W image and flair sequences [Figure 6]. Radiological features suggested a glioma in the region of left insular cortex. There was moderate enhancement on contrast imaging. At surgery a grayish mass was seen in the left insular area of brain, which on histo-pathological examination was reported as low grade astrocytoma. A final diagnosis of Ollier's disease associated with osteochondroma, Gilbert's syndrome and insular glioma of brain was made.
Figure 1: X-rays antero-posterior of both hands showing lytic lesions with sclerosed margins (enchondroma) in the metacarpals and phalanges of both the hands

Click here to view
Figure 2: X-rays showing lytic lesions (enchondroma) in the regions of growth plates and adjoining regions of both the tibia and fibula

Click here to view
Figure 3: X-rays showing two exostosis (osteochondroma) one each at the medial aspects of upper ends of both the tibia

Click here to view
Figure 4: Technetium-99m methylene diphosphonatewhole body bone scan showing multiple foci of intense tracer uptake in the skeleton suggesting extensive enchondromatosis

Click here to view
Figure 5: Magnetic resonance imaging revealed a well-defined lesion with no peri-lesional edema in left insular area that was hypo-intense on T1-W image

Click here to view
Figure 6: Magnetic resonance imaging revealed a well-defined lesion with no peri-lesional edema in left insular area that was hyper-intense on T2-W image

Click here to view



   Discussion Top


Ollier's disease is mostly encountered in childhood, affecting both sexes equally. The estimated prevalence of the disease is 1/100,000. [1] There is large variability with respect to number, size, location, age of onset and the requirement of treatment. The multiple enchondroma are usually distributed unilaterally and may involve the entire skeleton, although skull and vertebral bodies are rarely involved. [1] Malignant transformation into secondary chondrosarcoma of some enchondroma may occur in 5-50% of patients. [1] Association of Ollier's disease with intracranial glioma though rare has been reported in literature. On review of the literature, we came across 19 patients of Ollier's disease with associated intracranial glioma. Majority of the glioma are low grade astrocytoma. Frontal lobe is the most favored site in 50% of patients followed by brain stem. [2] Most patients have a single intracranial glioma however in 31.5% of patients' multiple intracranial glioma have been reported. Our patient had a single glioma in left insular cortex, which has not been reported in the literature so far. Patients with Ollier disease are treated for their skeletal lesions on a case to case basis with procedures like splinting of the fractures and sometimes curettage and bone grafting. [10] The lesions grow slowly until skeletal maturity. Ollier's disease is probably a syndromic entity of multiple enchondroma with associated vascular malformations, non-skeletal neoplasm like brain glioma and metabolic disorders like Gilbert's syndrome. It may also have additional skeletal lesions of cartilaginous cells like osteochondroma. Abnormalities in signaling pathways that regulate growth and parathyroid hormone 1 receptor (PTH1R) mutations have been reported in ~10% of Ollier's disease patients. Recently identical gene IDH1 mutations have been reported in patients of low grade astrocytoma and among patients with single and multiple enchondroma speculating a common link between patients of glioma and Ollier's disease. [2] Another common link involving enchondroma and glioma in patients of Ollier's disease are mutations in parathyroid hormone related peptide parathyroid hormone related peptide Type-1 receptor (PTHR1). [2] The peripheral skeletal enchondroma in patients of Ollier's disease are amenable to possible profiling for IDH1 and PTHR1 mutations to identify a subset of patients who are likely to develop intracranial glioma necessitating a supervised follow-up. Exostosin-1 germ line mutation among patients of multiple osteochondroma resulting in deregulated cartilaginous cells of growth plate has been reported. [11] Patients of Gilbert's syndrome have alteration in the promoter sequence for the gene of enzyme uridyldiphosphonate glucuronylphosphotransferase resulting in its reduced expression. [12] Presence of a genetic link at molecular level through signaling pathways among associated lesions in Ollier's disease is a matter of open debate and research. Ollier's disease may eventually turn out to be a complex syndrome than an isolated skeletal disorder of multiple enchondromatosis.

 
   References Top

1.Pansuriya TC, Kroon HM, Bovée JV. Enchondromatosis: Insights on the different subtypes. Int J Clin Exp Pathol 2010;3:557-69.  Back to cited text no. 1
    
2.Ranger A, Szymczak A, Hammond RR, Zelcer S. Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): A rare case of concurrence. J Neurosurg Pediatr 2009;4:363-7.  Back to cited text no. 2
[PUBMED]    
3.Hofman S, Heeg M, Klein JP, Krikke AP. Simultaneous occurrence of a supra- and an infratentorial glioma in a patient with Ollier's disease: More evidence for non-mesodermal tumor predisposition in multiple enchondromatosis. Skeletal Radiol 1998;27:688-91.  Back to cited text no. 3
[PUBMED]    
4.Chang S, Prados MD. Identical twins with Ollier's disease and intracranial gliomas: Case report. Neurosurgery 1994;34:903-6.  Back to cited text no. 4
[PUBMED]    
5.Frappaz D, Ricci AC, Kohler R, Bret P, Mottolese C. Diffuse brain stem tumor in an adolescent with multiple enchondromatosis (Ollier's disease). Childs Nerv Syst 1999;15:222-5.  Back to cited text no. 5
[PUBMED]    
6.Mellon CD, Carter JE, Owen DB. Ollier's disease and Maffucci's syndrome: Distinct entities or a continuum. Case report: Enchondromatosis complicated by an intracranial glioma. J Neurol 1988;235:376-8.  Back to cited text no. 6
[PUBMED]    
7.Auyeung J, Mohanty K, Tayton K. Maffucci lymphangioma syndrome: An unusual variant of Ollier's disease, a case report and a review of the literature. J Pediatr Orthop B 2003;12:147-50.  Back to cited text no. 7
[PUBMED]    
8.Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 2002;30:306-10.  Back to cited text no. 8
[PUBMED]    
9.Bathla G, Gupta S, Ong CK. Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. Indian J Radiol Imaging 2012;22:58-62.  Back to cited text no. 9
[PUBMED]  Medknow Journal  
10.Silve C, Jüppner H. Ollier disease. Orphanet J Rare Dis 2006;1:37.  Back to cited text no. 10
    
11.Porter DE, Simpson AH. The neoplastic pathogenesis of solitary and multiple osteochondromas. J Pathol 1999;188:119-25.  Back to cited text no. 11
[PUBMED]    
12.Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995;333:1171-5.  Back to cited text no. 12
[PUBMED]    


    Figures

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



 

Top
  
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
    Abstract
   Introduction
   Case Report
   Discussion
    References
    Article Figures

 Article Access Statistics
    Viewed1872    
    Printed28    
    Emailed1    
    PDF Downloaded95    
    Comments [Add]    

Recommend this journal