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 ( ).
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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.
Palabras clave: Condroma. 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. Figure 3.
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, Only twenty-five cases of intracranial chondromas arising from the dural convexity are reported in the literature so far3, Several hystopathogenetic theories have been proposed to explain the formation of such tumours.
These are metaplasia of meningeal fibroblasts and perivascular meningeal tissue1,2,6, traumatic or inflammatory cartilaginous activation of fibroblasts16 and growth of aberrant embryonal cartilaginous rests in the dura mater heterotopical condrocytes 6, It seems likely, although impossible to ascertain, that the existence of embryonic remnants of chondrogenic cells may explain the development of dural chondromas, as considered to be the origin of basal chondromas6, Chondromas present clinical features somehow similar to meningiomas, even though they appear in a younger population Because of the slow growing nature of chondromas they become very large-sized at presentation13, The mass effect of these tumours may result in seizures or focal deficits, as well as, raised intracranial pressure or hydrocephalus3.
Malignant degeneration has been reported before, especially in partially resected tumours12, The radiological features of dural chondromas have been thoroughly reviewed by Nakayama et al Chondromas are known to be able to erode the inner side of the skull bone due to local tumour growth and they may induce hyperostosis3, CT scan imaging shows a mass of variable density appearance due to different degrees of calcification with minimum to moderate contrast enhancement's.
The centre of the tumour may have low-density, reflecting necrosis or cystic degeneration. MRI studies show a wellcircumscribed lesion without surrounding tissue oedema, that exhibit heterogeneous signal with intermediate to low intensity on T1-weighted images and mixed intensity on T2-weighted images.
A minimum enhancement after gadolinium administration is expected.
Chondromas do not display any dural tail as in classic convexity meningiomas and the latter exhibit a more marked heterogeneous contrast enhancement.
Angiogram is clue to differentiate from meningiomas since chondromas are completely avascular extracerebral space-occupying lesions2,11,15, Complete tumour resection including its dural attachment should be the goal of surgery since no recurrence is expected to occur after total excision3,16, Long-term prognosis is favourable if no complications follow surgical removal1,9, Epilepsy may persist after tumour removal as in the case presented. Radiation therapy is currently not recommended for residual tumours or inoperable patients since chondromas do not clearly respond to irradiation and it may induce malignant degeneration3,7.
As in classic meningiomas, surgical resection is easier when the tumour is located in the convexity compared to skull base chondromas3. Its clear subarachnoid plane allows fine dissection from the underlying brain. They are firm, almost completely avascular lesions not invasive or adherent to the surrounding tissues. These features favour their complete resection with a minimum morbidity. As in the case presented, very large tumours need piece by piece resection in order to avoid excessive brain retraction Osteochondroma: MR imaging of tumor-related complications.
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