European Journal of Radiology, 12 (1991) 135-137
135
Elsevier
EURRAD
00 144
Multiple enchondromatosis
(Ollier’s disease) complicated by malignant astrocytoma
C.J.A. Bendel and H.J. Gelmers Department
of Diagnostic Radiology, Twenteborg Ziekenhuis, Almelo. The Netherlands
(Received
16 May 1990; accepted
Key words: Enchondromatosis,
after revision 14 November
Ollier’s disease; Astrocytoma,
complicating
1990)
Ollier’s disease
Introduction Multiple enchondromatosis (Ollier’s disease) is a rare non-hereditary condition, comprising multiple asymmetrically distributed intra-osseous cartilaginous masses in the metaphyses and diaphyses. When associated with cutaneous hemangiomas it is usually referred to as Maffucci’s syndrome [ 11. Differentiation has been considered important for a diverse potential of developing malignancies, which has been reported as high as 50% in patients with Maffucci’s syndrome and about 20% in patients with Ollier’s disease [ 1,2]. Till recently, Ollier’s disease has not been associated with malignant changes other than sarcomatous degeneration of the enchondromas. In this report a patient is presented with Ollier’s disease who developed a high-graded astrocytoma. Case report A 29-year-old Caucasian female had a 2 year history of headache and was presented at the neurology department with seizures. As a youngster she was known with multiple enchondromas (Fig. 1). Several times she underwent corrective osteotomies at the lower extremities with removal of exostoses. On admission she suffered from seizures of the grand-ma1 type. Physical examination revealed the abnormalities of Ollier’s disease. There were signs of Address for reprints: C.J.A. Bendel, M.D., Afdeling Radiodiagnostiek, Twenteborg Ziekenhuis, Zilvermeeuw 1,760O SZ, Almelo, The Netherlands. 0720-048X/91/$03.50
0 1991 Elsevier Science Publishers
Fig. 1. Enchondromas
B.V. (Biomedical
Division)
in left proximal femur metaphyse diaphyse.
and
136
Fig. 2. (a) Mass lesion in right frontal lobe with solid and cystic components. Infiltration in the callosal body. (b) Ring-like enhancement intravenous contrast administration.
raised intracranial pressure. She showed no evidence of cutaneous hemangiomas at extensive examination. A CT scan depicted a mass lesion in the right frontal lobe (Fig. 2). The mass was irregular. There was infiltration in the callosal body. Some enhancement was seen after intravenous administration of contrast. As the most likely diagnosis a high-graded intracranial malignancy was suspected. A stereotactic biopsy was performed. Histological examination revealed a high-graded astrocytoma. Discussion Enchondromatosis are usually classified in six groups including multiple enchondromatosis (Ollier’s disease), Maffucci’s syndrome, metachondromastosis, spondyloenchondrodysplasia, enchondromatosis with irregular vertebral lesions and generalised enchondro,‘, matosis [2]. This patient had features’of multiple enchondromatosis. Enchondromatosis may be complicated by chondroma, usually arising at the base of the skull [ 11. Sarcomatous degeneration is a well known complication in these patients [ 31. Neurological symptoms or signs in patients with enchondromatosis are frequently caused by sarcomatous degeneration of an enchondroma. The sphenoid bone is most commonly affected. Chondrosarcomas may produce optic neuropathy as well as other cranial nerve palsies [4]. Differentiation of chondrosarcoma and benign enchondroma may be difficult radiographically [ 11.
after
Recently the value of MR imaging in the dilferentiation was shown [ 51. Prolongation of T2 in chondrosarcoma relative to enchondroma suggests to be of help in the diagnosis. Till now there have been four reports of multiple enchondromas complicated by central nervous system neoplasms. In three cases there was pathological confnmation [6-91. However, two patients had Maffucci’s syndrome [6,8]. The other patients had only enchondromatosis, indicating Ollier’s disease [ 7,9]. This report presents another case of Ollier’s disease associated with a primary central nervous neoplasm, i.e., an astrocytoma graded III-IV. In recent publications the differentiation of Oilier’s disease and Maffucci’s syndrome in terms of potention of sarcomatous change was made debatable [3,9]. This case and other indicate that non-mesenchymal tumors such as glioma occur in Maffucci’s syndrome as well as in Ollier’s disease. It may be possible that patients with Ollier’s disease and Maffucci’s syndrome are not only at higher risk of developing mesenchymal but also non-mesenchymal tumors, i.e., primary intracranial tumors. It’s likely that the differentiation between Maffucci’s syndrome and Ollier’s disease is a subtle one, and that at least some cases with Ollier’s disease should actually be classified as Maffucci’s syndrome, where hemangiomas are subclinically; however, those can only be detected by autopsy [lo]. Therefore a rigid differentiation of these syndromes seems to be artificial.
137
References 1 Resnick D, Niwayama G. Diagnosis of bone and joint disorders. 2nd edn. Philadelphia: Saunders, 1988. 2 Spranger J, Kemperdieck H, Bakowski H, Opitz JM. Two peculiar types of enchondromatosis. Pediatr Radio1 1978; 7; 215-219. 3 Liu J, Hudkins PG, Swee RG et al. Bone sarcomas associated with Ollier’s disease. Cancer 1987; 59 : 1376-1385. 4 Lowell SH, Mathog RH. Head and neck manifestations of Maffucci’s syndrome. Arch Otolaryngol 1979; 105: 427-430. 5 Unger EC, Kessler HB, Kowalyshyn MJ, Lachman RD, Morca GT. MR imaging of Maffucci’s syndrome. AJR 1988; 150: 351-353. 6 Ashenhurst EM. Dyschondroplasia with haemangioma (Maf-
7
8
9
10
fucci’s syndrome): report of a case complicated by brain tumor. AMA Arch. Neurol. 1960; 2: 552-555. Becker N, Thron A. Dyschondroplasie mit gliomatosem Himtumor. Dritter histologisch gesicherter Fall. Arch Orthop. Trans Surg. 1979; 93: 141-144. Carleton A, Elkington, JSTC, Greenfield JG. Maffucci’s syndrome (dyschondroma with haemangiomata), QJ Med. 1942; 11: 203-228. Mellon CA, Carter JE, Owen DB. Ollier’s disease and MatTucci’s syndrome: distinct entities or a continuum case report: enchondromatosis complicated by an intra-cranial glioma. J. Neurol. 1988: 235: 376-378. Braddock GTF, Hadlow VD. Osteosarcoma in enchondromatosis (Oilier’s disease). J Bone Joint Surg 1966; 48: 145-149.
135
Elsevier
EURRAD
00 144
Multiple enchondromatosis
(Ollier’s disease) complicated by malignant astrocytoma
C.J.A. Bendel and H.J. Gelmers Department
of Diagnostic Radiology, Twenteborg Ziekenhuis, Almelo. The Netherlands
(Received
16 May 1990; accepted
Key words: Enchondromatosis,
after revision 14 November
Ollier’s disease; Astrocytoma,
complicating
1990)
Ollier’s disease
Introduction Multiple enchondromatosis (Ollier’s disease) is a rare non-hereditary condition, comprising multiple asymmetrically distributed intra-osseous cartilaginous masses in the metaphyses and diaphyses. When associated with cutaneous hemangiomas it is usually referred to as Maffucci’s syndrome [ 11. Differentiation has been considered important for a diverse potential of developing malignancies, which has been reported as high as 50% in patients with Maffucci’s syndrome and about 20% in patients with Ollier’s disease [ 1,2]. Till recently, Ollier’s disease has not been associated with malignant changes other than sarcomatous degeneration of the enchondromas. In this report a patient is presented with Ollier’s disease who developed a high-graded astrocytoma. Case report A 29-year-old Caucasian female had a 2 year history of headache and was presented at the neurology department with seizures. As a youngster she was known with multiple enchondromas (Fig. 1). Several times she underwent corrective osteotomies at the lower extremities with removal of exostoses. On admission she suffered from seizures of the grand-ma1 type. Physical examination revealed the abnormalities of Ollier’s disease. There were signs of Address for reprints: C.J.A. Bendel, M.D., Afdeling Radiodiagnostiek, Twenteborg Ziekenhuis, Zilvermeeuw 1,760O SZ, Almelo, The Netherlands. 0720-048X/91/$03.50
0 1991 Elsevier Science Publishers
Fig. 1. Enchondromas
B.V. (Biomedical
Division)
in left proximal femur metaphyse diaphyse.
and
136
Fig. 2. (a) Mass lesion in right frontal lobe with solid and cystic components. Infiltration in the callosal body. (b) Ring-like enhancement intravenous contrast administration.
raised intracranial pressure. She showed no evidence of cutaneous hemangiomas at extensive examination. A CT scan depicted a mass lesion in the right frontal lobe (Fig. 2). The mass was irregular. There was infiltration in the callosal body. Some enhancement was seen after intravenous administration of contrast. As the most likely diagnosis a high-graded intracranial malignancy was suspected. A stereotactic biopsy was performed. Histological examination revealed a high-graded astrocytoma. Discussion Enchondromatosis are usually classified in six groups including multiple enchondromatosis (Ollier’s disease), Maffucci’s syndrome, metachondromastosis, spondyloenchondrodysplasia, enchondromatosis with irregular vertebral lesions and generalised enchondro,‘, matosis [2]. This patient had features’of multiple enchondromatosis. Enchondromatosis may be complicated by chondroma, usually arising at the base of the skull [ 11. Sarcomatous degeneration is a well known complication in these patients [ 31. Neurological symptoms or signs in patients with enchondromatosis are frequently caused by sarcomatous degeneration of an enchondroma. The sphenoid bone is most commonly affected. Chondrosarcomas may produce optic neuropathy as well as other cranial nerve palsies [4]. Differentiation of chondrosarcoma and benign enchondroma may be difficult radiographically [ 11.
after
Recently the value of MR imaging in the dilferentiation was shown [ 51. Prolongation of T2 in chondrosarcoma relative to enchondroma suggests to be of help in the diagnosis. Till now there have been four reports of multiple enchondromas complicated by central nervous system neoplasms. In three cases there was pathological confnmation [6-91. However, two patients had Maffucci’s syndrome [6,8]. The other patients had only enchondromatosis, indicating Ollier’s disease [ 7,9]. This report presents another case of Ollier’s disease associated with a primary central nervous neoplasm, i.e., an astrocytoma graded III-IV. In recent publications the differentiation of Oilier’s disease and Maffucci’s syndrome in terms of potention of sarcomatous change was made debatable [3,9]. This case and other indicate that non-mesenchymal tumors such as glioma occur in Maffucci’s syndrome as well as in Ollier’s disease. It may be possible that patients with Ollier’s disease and Maffucci’s syndrome are not only at higher risk of developing mesenchymal but also non-mesenchymal tumors, i.e., primary intracranial tumors. It’s likely that the differentiation between Maffucci’s syndrome and Ollier’s disease is a subtle one, and that at least some cases with Ollier’s disease should actually be classified as Maffucci’s syndrome, where hemangiomas are subclinically; however, those can only be detected by autopsy [lo]. Therefore a rigid differentiation of these syndromes seems to be artificial.
137
References 1 Resnick D, Niwayama G. Diagnosis of bone and joint disorders. 2nd edn. Philadelphia: Saunders, 1988. 2 Spranger J, Kemperdieck H, Bakowski H, Opitz JM. Two peculiar types of enchondromatosis. Pediatr Radio1 1978; 7; 215-219. 3 Liu J, Hudkins PG, Swee RG et al. Bone sarcomas associated with Ollier’s disease. Cancer 1987; 59 : 1376-1385. 4 Lowell SH, Mathog RH. Head and neck manifestations of Maffucci’s syndrome. Arch Otolaryngol 1979; 105: 427-430. 5 Unger EC, Kessler HB, Kowalyshyn MJ, Lachman RD, Morca GT. MR imaging of Maffucci’s syndrome. AJR 1988; 150: 351-353. 6 Ashenhurst EM. Dyschondroplasia with haemangioma (Maf-
7
8
9
10
fucci’s syndrome): report of a case complicated by brain tumor. AMA Arch. Neurol. 1960; 2: 552-555. Becker N, Thron A. Dyschondroplasie mit gliomatosem Himtumor. Dritter histologisch gesicherter Fall. Arch Orthop. Trans Surg. 1979; 93: 141-144. Carleton A, Elkington, JSTC, Greenfield JG. Maffucci’s syndrome (dyschondroma with haemangiomata), QJ Med. 1942; 11: 203-228. Mellon CA, Carter JE, Owen DB. Ollier’s disease and MatTucci’s syndrome: distinct entities or a continuum case report: enchondromatosis complicated by an intra-cranial glioma. J. Neurol. 1988: 235: 376-378. Braddock GTF, Hadlow VD. Osteosarcoma in enchondromatosis (Oilier’s disease). J Bone Joint Surg 1966; 48: 145-149.
