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Ollier Disease: a Case Report

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Ollier Disease: a Case Report Case Report Ollier Disease: A Case Report Bajracharya L*, Shrestha M**, Paudel S***, Shrestha PS*** *Teaching Assistant, **Assistant Professor, Department of Paediatrics, ***Assistant Professor, Department of Radiology, ****Professor, Department of Paediatrics, TUTH, Kathmandu, Nepal. ABSTRACT Ollier disease is a rare disease featuring multi ple enchondromas mainly aff ecti ng limbs. We describe a boy who presented in our OPD with multi ple painless joint deformiti es mostly in the both upper and lower limbs. Conventi onal X-ray evaluati on revealed typical multi ple radiolucent, homogenous oval and elongated shapes in the deformed limbs. : Ollier Disease , Enchondromatosis INTRODUCTION Enchondromas are common, benign, usually deformity of limbs. There is no history of weight asymptomati c carti lage tumours that develop in loss or traumati c injury. There is no similar family metaphyses and may also involve the diaphysis of history . He is acti ve , appropriate in all domains of long tubular bones.1 Ollier disease is defi ned by the development except delayed motor milestones, short presence of multi ple enchondromas and characterized limb gait and postural lumbar scoliosis. His vitals are by an asymmetric distributi on of carti lage lesions which stable. Weight is 20kg and height is 106cm (both less can be extremely variable. 2 The prevalence of Ollier’s than 3rd percenti le of NCHS). His head circumference disease is esti mated to be 1/100000 .1Children with is 52cm (50th percenti le). Upper segment to lower symptomati c enchondromatosis cases usually present segment rati o is 0.89cm. Multi ple joints are swollen before puberty with deformity, growth disorders and but nontender and non-erythematous. There are mild recurrent pathological features .3,4 restricti ons in range of moti on of all joints. There are angular deformiti es of bilateral arms, legs and left wrist Enchondromas appear as well defi ned medullary (cubitus varus deformity of right elbow, genu valum, lesions and lobulated contour, endosteal erosion cavovarum deformity of left foot, valgus deformity of ground glass appearance of matrix and someti mes right foot). Bony deformity is present at inferior pole maybe accompanied with expansion of bone thining of right scapula and right 3rd, 4th and 5th costochondral of cortex and dysmorphic calcifi cati ons within the juncti on . Left pelvis is at higher level. Lower limb length matrix.4 discrepancy (true shortening of right lower limb) is CASE 3cm. Examinati on of fi ngers and toes shows signifi cant macrodactyly (Figure 1). Laboratory investi gati ons A 10 years old boy came to the Paediatric OPD at TUTH shows normal hemoglobin, total leukocyte count, with history of multi ple joint swellings since 1 year of diff erenti al count, ESR. His liver, renal functi on test, age .According to the pati ent, the joint swellings are serum calcium , phosphorus , 24 hour urinary calcium gradually increasing in size without pain but causing and phosphorous are also within normal limits. Plain radiography skeletal survey (Figure 2)shows increased Correspondence : lucency of the metaphyseal region with expansion Dr. Luna Bajracharya, Teaching Assistant, at the site with multi ple punctuate calcifi cati on with Department of Paediatrics, Tribhuvan University ring and arch like patt ern noted in the conserved Teaching Hospital bones. Growth plate is partly visualized with relati ve Email: luna.bajracharya @yahoo.com 46 Volume 16│Number 2│Jul-Dec 2016 PMJN Postgraduate Medical Journal of NAMS Ollier Disease: A Case Report preservati on of epiphysis. No obvious diaphyseal involvement is noted, with relati ve narrow zone of transiti on. There is non-visualizati on of the corti cal margins at the metaphyseal regions of the concerned areas. Increased linear intermitt ent trabeculati ons are noted which are verti cally oriented along the long axis of the bones. Skull and spine is spared . Chest X-ray is normal. In MRI (Figure 3) T2 Weighed axial and coronal Figure 3: images of knee shows mixed signal intensity masses in the metaphysis of distal femur , proximal ti bia and DISCUSSION fi bula . Masses showed predominately high signal Ollier disease is a non-familial disease with multi ple intensity with intermixed areas of isointense and low enchondromas that typically aff ect the metaphyseal signal intensity .Expansion of metaphyses was also ends of bones .In Maff ucci syndrome, apart from noted with thinning of the cortex. Ultrasonography multi ple endochondromas , there are soft ti ssue of abdomen is normal. There are no evidence of hemangiomas . 1 haemangiomas on physical examinati on . Thus the case is diagnosed as Ollier Disease on the basis of Enchondromas present on the extremiti es are usually clinical presentati on and radiological evidence. visible as masses within phalanges, metacarpal and metatarsal bones. Enchondromas are frequently located in the long tubular bones, parti cularly the ti bia, the femur and in some cases fl at bones. Aff ected bones generally become shortened and deformed. 1 In our case, apart from the limb involvement, involvement of scapula, ribs and pelvis is evident clinically and radiographically with right sided predominance of lesions. The head and spine are spared A minor delay in bone age has been observed in children aff ected by Ollier disease. 5 Ollier Disease is diagnosed on the basis of clinical fi ndings and conventi onal radiological examinati ons. Figure 1: Histology evaluati on done mainly when the possibility of malignancy is considered. Magneti c resonance Imaging and Ultrasound are generally done for evaluati on and monitoring of disease progression in such lesions. 1 The lesions can undergo malignant transformati on such as chondrosarcomas.6 Ollier disease has also been associated with other tumours such as ovarian and brain tumours. 7,8 Studies have shown the associati on of mutati ons in isocitrate dehydrogenase and Parathyroid Hormone/ Parathyroid Hormone related protein in cases of enchondromatosis . 9,10 Figure 2: There is no medical treatment for Ollier disease. Surgery is indicated in case of complicati ons such as pathological fractures, malignant transformati ons, growth defects and for intracranial enchondromas. 1,11 Volume 16│Number 2│Jul-Dec 2016 47 PMJN Postgraduate Medical Journal of NAMS Ollier Disease: A Case Report CONCLUSION 5 Loder RT, Sundberg S, Gabriel K, Mehbod A, Meyer C: Determinati on of bone age in children with carti laginous In Ollier disease multi ple enchondromas occur, mostly dysplasia (multi ple hereditary osteochondromatosis in the limbs. The diagnosis is based on clinical features and Ollier’s enchondromatosis). J Pediatr Orthop 2004, and conventi onal x-ray images. Symptomati cally, 24:102-108. children present with deformiti es, pathological 6 Schwartz HS, Zimmerman NB, Simon MA, Wroble fractures and growth defects whereas there is RR,Millar EA, Bonfi glio M.The malignant potenti al of enchondromatosis. J Bone Joint Surg Am 1987; 69 possibility of malignant transformati on of the lesions (2):269-74. with increasing age. This case reports highlights a 7 Tamimi HK, Bolen JW Cancer. Enchondromatosis (Ollier’s rare bone disorder in children with important clinical disease) and ovarian juvenile granulosa cell tumor 1984 implicati ons. Apr 1;53(7):1605-8. REFERENCES 8 Mahafza WS.Multi ple enchondromatosis Ollier’s disease with two primary brain tumors.Saudi Med J 2004; 1 Silve C, Jüppner H. Ollier disease. Orphanet J Rare Dis 25:1261-63. 2006 22; 1:37. 9 Amary MF , Damato S, Halai D, Eskandarpour M, Berisha 2 Fletcher CDM, Unni K, Mertens F, (Ed): World Health F, Bonar F et al. Ollier disease and Maff ucci syndrome are Organizati on Classifi cati on of Tumors. Pathology and caused by somati c mosaic mutati ons of IDH1 and IDH2. geneti cs. Tumors of Soft Tissue and Bone Lyon: IARC Nat Genet. 2011 Nov 6;43(12):1262-5. Press; 2002:427. 10 Schipani E, Provot S. PTHrP, PTH, and the PTH/PTHrP 3 Shapiro F. Ollier’s Disease. An assessment of angular receptor in endochondral bone development. Birth deformity, shortening, and pathological fracture in Defects Res C Embryo Today. 2003 Nov;69(4):352-62. twenty-one pati ents. J Bone Joint Surg Am 1982; 64: 95- 11 D’Angelo L, Massimi L, Narducci A, Di Rocco C. Ollier 103. disease. Childs Nerv Syst. 2009 Jun;25(6):647-53. 4 Khoo R N, Peh W C G, Guglielmi G Clinics in diagnosti c imaging. Singapore Med J 2008; 49 (10) : 845. 48 Volume 16│Number 2│Jul-Dec 2016 PMJN Postgraduate Medical Journal of NAMS.
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