PDF | Multiple enchondromatosis (Ollier's disease) is a rare disease characterized by widespread enchondromaswith a unilateral predominance, especially in. PDF | On Jan 1, , Margarita María Sanz and others published Multiple enchondromatosis (Ollier's Encondromatosis múltiple (Enfermedad de Ollier). Reporte de un caso y diagnóstico diferencial de las encondromatosis. Cammarata-Scalisi dad de Ollier y el síndrome de Maffucci fueron re- visados. Palabras.
|Language:||English, Spanish, Portuguese|
|ePub File Size:||26.41 MB|
|PDF File Size:||9.23 MB|
|Distribution:||Free* [*Sign up for free]|
Download PDF. 1 / Pages. Previous article. Go back to website. Next article. Se incluyen 16 casos de Ollier y un caso de síndrome de Maffucci. La enfermedad de Ollier o encondromatosis múltiple es una discondroplasia de osificación. Ollier disease. Disease definition. Enchondromatosis is a rare primary Professionals. Summary information; Greek (, pdf). Review article; English ( ).
Summary Hereditary multiple exostoses HME is an inherited genetic condition characterized by the presence of multiple exostoses osteochondromas. These genes are linked to heparan sulfate HS synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying. Although MHE may be asymptomatic, a wide spectrum of clinical manifestations is found in paediatric patients with this disorder. Pain is experienced by the majority of patients, even restricted motion of the joint is often encountered. Sometimes exostoses can interfere with normal development of the growth plate, giving rise to limb deformities, low stature and scoliosis.
Introduction Intracranial chondromas are very rare tumours with an estimated incidence of 0. Most of these neoplasms arise from a synchondrosis located at the skull base, especially in the sellar and parasellar areas13, Exceptionally, they may grow from cartilage rests within the dura mater of the convexity or the falx3,4,10, These tumours are typically diagnosed in young adults and exhibit no clear sex predominance3, They may present as raised intracranial pressure, focal neurological disturbances, cranial nerve palsies, hydrocephalus or seizures Intracranial chondromas are considered hystologically benign lesions, sometimes associated to certain syndromes such as Ollier's multiple enchondromatosis or Maffuci's syndrome8, A mixed tumour formed by mature cartilage and choroid plexus papilloma has been also reported We describe the case of a young male previously diagnosed of Noonan's syndrome that underwent craniotomy and resection of a large intracranial chondroma arising from the dural convexity.
To our best knowledge this is the first report of such association. The literature concerning intracranial dural chondromas is reviewed. Case report An year-old male presented with a single generalised seizure which occurred during sleep. The patient was previously diagnosed of Noonan's syndrome on the basis of his special phenotype: short neck, hypertelorism, broad nasal base, anti-mongoloid ocular obliquity, fishlike mouth, ojival soft palate, cubitus valgus, angel's wing, retarded sexual characters development, low stature and normal karyotype 46 XY.
He was born slightly premature caesarean section at 34 weeks, weighing grams and suffered hydramnios and neonatal sepsis.
Two older brothers had died at ages 3 and 16 days postpartum respectively, due to complex cardiac malformations. A patient's niece was also diagnosed of Noonan's syndrome and one of his aunts had epilepsy of unknown origin.
He was diagnosed of mild pulmonary valve stenosis. He had an abnormal bone development corresponding to fourteen years-old and his stature had been below percentile 3 ever since birth. At the time of admission he was cm tall, weighed His parents referred mild psychomotor retardation enough as to interfere with normal schooling.
Complete physical and neurological examinations were unremarkable. Echocardiography showed the pulmonary valve stenosis, and hormone values and blood biochemical parameters were normal. A fusion defect of the spinal posterior arch was found at the L5 level. Brain Magnetic Resonance image showed a large well-circumscribed intracranial mass apparently extending from the dural convexity of the left frontal-parietal lobes, with heterogeneous contrast enhancement, no peritumoural oedema and a remarkable space-occupying effect figure 1.
The patient was initiated on valproic acid and he was prepared for surgery after the appropriate informed consent was obtained. The patient underwent left frontal-parietal craniotomy and complete excision of the tumour.
It was infiltrative in the dura mater and eroded the inner table of the skull. It showed a striking lobulated appearance mimicking cortical gyri and sulci figure 2. A defined arachnoid plane allowed fine dissection from the underlying cortex as in classicalconvexitymeningiomas.
Thetumourwasfirm,whitegreyish, avascular and too difficult to aspirate with an ultrasound aspirator, so it was carefully resected in several pieces. The overlying dura was also removed and sent for pathologic studies. The inner side of the bone flap was drilled before replacement. Figure 2. Macroscopical view of the specimen.
A: One of the pieces resected was 8 x 6 x 2 cm in dimension. It exhibited a smooth poly-lobulated surface mimicking cortical sulci and gyri. B: When the specimen was cut, it showed a white-greyish firm homogenous tissue.
Within the first 72 hours after the intervention the patient suffered several generalised seizures that required additional anticonvulsant therapy valproic acid plus phenytoin for definite control. No neurological defect developed and the patient was discharged asymptomatic at the seventh day.
On the basis of the histopathological specimens, a diagnosis of intracranial chondroma of the dural convexity was made. Microscopically, it exhibited well-differentiated cartilaginous cells within a fibrous matrix forming lobulated structures without any signs of malignancy figure 3. Subsequent brain MRI studies have shown no evidence of recurrence after 33 months of follow up figure 4. The patient is currently under two antiepileptic drugs valproic acid and lamotrigine but he suffers sporadic generalised seizures because of common incompliance with medication.
Microscopical view of the specimen. A: Low grade tumoral proliferation with visible cartilaginous differentiation Haematoxylin-Eosin x B: Several mature condrocytes without any signs of atypia within a dense chondroid matrix Alcian Blue x Figure 4. Postoperative MRI: axial, coronal and sagittal views after total excision of the dural chondroma. Residual malacia is still present after 33 months and may contribute to the persistence of epilepsy. Discussion Chondromas are extremely rare intracranial tumours less than 0.
They basically arise from the synchondrosis located at the skull base and they have been previously associated with Ollier's multiple enchondromatosis and Mafucci's syndrome8, They show equal sex distribution with a peak incidence in the third decade15, Osteochondroma: MR imaging of tumor-related complications. Eur Radiol. Cartilaginous bone tumors. Radiol Clin North Am. Symptomatic osteochondromas: imaging features.
Benign osteochondromas and exostotic chondrosarcomas: evaluation of cartilage cap thickness by ultrasound.
Skeletal Radiol. Benign exostoses and exostotic chondrosarcomas: evaluation of cartilage thickness by CT. MR imaging of solitary osteochondromas: report of eight cases.
A case of osteosarcoma arising in a solitary osteochondroma. Acta Orthop Scand. Osteosarcoma arising from a multiple exostoses lesion: case report. Jpn J Clin Oncol. Extensive growth of an osteochondroma in a skeletally mature patient: a case report. J Bone Joint Surg Am. Clin Orthop Relat Res. Malignant transformation of a multiple cartilaginous exostosis—a case report.
Int Orthop. Clinical correlation to genetic variations of hereditary multiple exostosis. J Pediatr Orthop. Manifestations of hereditary multiple exostoses.
Lesion in diagnosis of bone and joint disorders. Saunders Company; Enchondroma versus chondrosarcoma in the appendicular skeleton: differentiating features. Chondrosarcoma of the hand secondary to multiple enchondromatosis; report of two cases. Arch Orthop Trauma Surg.
Malignant transformation of a benign enchondroma of the hand to secondary chondrosarcoma with isolated pulmonary metastasis. Case 1 Case 1. Lllier was shortening of right leg which was noticed by the parents since 3 years of age.
Edit article Share article View revision history. Statistics The diagnosis is based on clinical and conventional radiological evaluations.
Find articles by V. The lesions are usually asymmetrical, that are localized unilateral, if bilateral, and there will be one dominant side [ 2 ]. Published online Jan 1. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to encondromatsis Schwartz et al.
You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Mutations were absent in Endondromatosis isolated from the blood, muscle, or saliva of the subjects. Plain radiographs are sufficient for diagnosis. Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia.
Ollier disease For all other comments, please send your remarks via contact us. Dominant inheritance with reduced penetrance is possible. Nara Sobreira — updated: About Blog Go ad-free.