Displasia fibrosa craneofacial y quiste óseo aneurismático en una paciente con síndrome de McCune-Albright. Presentación de un caso y revisión de la literatura

McCune-Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, 2 of the findings are enough to make the diagnosis.Craniofacial fibrous dysplasia is a term that is used to describe the fibrous dysplasia, which was localized at the craniofacial skeleton and is common in MAS patients.Aneurysmal bone cyst (ABC) is a rare non-neoplastic bone lesion that involves mostly the long bones and vertebrae and may occur very rarely in the craniofacial bones. ABCs may occur as secondary bony pathologies in association with various benign and malignant bone tumors and with fibrous dysplasia. Secondary ABC occurring in craniofacial FD is extremely rare. We present the case of a 21-year-old patient treated at our center for a right orbital aneurysmal bone cyst associated with MAS and provide a review of the relevant literature.     

Cranial aneurysmal bone cyst: a diagnostic problem With a review of the literature

Aneurysmal bone cysts (ABC) are benign osteolytic lesions that are more common in young people than in adults and involve the skull only exceptionally. The origin of ABC is still debated; indeed, some authors consider ABC to be an anomalous bony reaction that is secondary to traumas or tumours. Conversely, others consider ABC to be a distinct entity. A case of a healthy young female affected by a left frontal ABC is reported here. The clinical onset was characterised by the sudden appearance of a tender and mildly painful frontal mass. Neuroradiological assessment showed a well-circumscribed lytic lesion of the frontal bone with predominantly outward extension. En bloc surgical removal of the lesion was successfully achieved; a reconstructive cranioplasty was also performed to repair the cranial defect. The rarity of the condition described, together with the absence of clear guidelines, prompted us to review the more recent literature with the twin goals of identifying radiological features and becoming able to address the diagnosis and rules for treatment of such a rare entity. Received: 28 July 2000 Revised: 25 September 2000     

Aneurysmal bone cyst of the orbit : a case report with literature review

Aneurysmal bone cyst (ABC) is benign vascular lesion destructing the cortical bone by the expansion of the vascular channel in the diploic space that usually involve long bone and spine. Orbital ABC is rare and the clinical symptoms deteriorate rapidly after initial slow-progression period for a few months. A 12-year-old female patient visited ophthalmologist due to proptosis and upward gaze limitation of the right eye, and orbital mass was noted in the upper part of right eye on orbital MRI. Five months later, exophthalmos was worsened rapidly with other features of ophthalmoplegia. Orbital mass was enlarged on MRI with intracranial extension. Surgery was done through frontal craniotomy and intracranial portion of the tumor was removed. Destructed orbital roof and mass in the orbit was also removed, and surrounding bone which was suspected to have lesion was resected as much as possible. Histopathological diagnosis was aneurysmal bone cyst. Postoperative course was satisfactory and the patient's eye symptoms improved. Authors report a rare case of orbital ABC with review of the literature. Exact diagnosis by imaging studies is important and it is recommended to perform surgical resection before rapid-progressing period and to resect the mass completely to prevent recurrence.     

Temporal bone chondroblastoma with secondary aneurysmal bone cyst presenting as an intracranial mass with clinical seizure activity

Chondroblastomas are rare tumors that characteristically arise from the epiphyseal cartilage of long bones of the immature skeleton. Intracranial involvement is uncommon, though the squamous portion of the temporal bone is preferentially affected due to its cartilaginous origin. Patients with temporal bone chondroblastomas classically present with otologic symptoms, while primary neurological complaints are rare. In this report, we describe a 33 year-old man with a chondroblastoma of the temporal bone and an associated aneurysmal bone cyst constituting a large intracranial mass lesion who presented with new-onset seizure activity. We review issues relevant to the pathology and treatment of these lesions.     

Metástasis sacra simulando quiste óseo aneurismático

Cystic spinal lesions with characteristic patterns, such as the presence of haematic fluid-fluid levels (H-FFL), have been associated with many tumoral lineages, more frequently with aneurysmal bone cyst (ABC) and exceptionally with metastasis. We present the case of a 60-year-old man with the finding of a sacral cystic bone lesion with H-FFL, with initial suspicion of ABC and confirmed diagnosis of metastasis. The case presented is, to our knowledge, the second case published of spinal cystic bone metastasis with H-FFL pattern with unknown primary tumour at the time of diagnosis and the only one that received resective surgical treatment, achieving pulmonary and metastatic disease control with good quality of life after 1 year of follow up.     

A huge occipital osteoblastoma accompanied with aneurysmal bone cyst in the posterior cranial fossa

Osteoblastoma is an infrequent benign tumor and skull involvement is extremely rare. The occipital bone is much less frequently involved. We report an unusual case of a huge occipital osteoblastoma with aneurysmal bone cyst in the posterior cranial fossa of a 20-year-old young man. MRI scan and CT three-dimensional reconstruction revealed that the tumor (approximately 8.5 cm x 6 cm x 5 cm) occupied nearly half volume of the posterior cranial fossa. The cerebellum, the forth ventricle and brain stem were compressed remarkably and hydrocephalus was noted. The tumor mass was multiloculated cystic and highly vascular. Excessive bleeding occurred during operation and total removal was achieved. The patient was symptom-free and MRI scan revealed no evidence of recrudescence after a follow-up period of 18 months. Pathological examination revealed that the lesion was a benign osteoblastoma with secondary aneurysmal bone cyst (ABC). ABC constitutes a highly vascular lesion while complete surgical resection is often impeded by excessive intraoperative bleeding. Preoperative embolization may reduce the risk. Despite the benign nature of osteoblastoma, local recurrence after incomplete resection is not rare and malignant transformation during recurrence may occur even after adequate surgery. Our case confirms the findings of previous investigators that if osteoblastoma is removed completely, no recurrence is expected even without adjuvant irradiation and chemotherapy.     

Cystic Giant Sacral Schwannoma Mimicking Aneurysmal Bone Cyst : A Case Report and Review of Literatures

To present a rare case of a cystic giant schwannoma of the sacrum mimicking aneurysmal bone cyst (ABC). A 54-year-old man visited our institute complaining left leg weakness and sensory change for several years. Magnetic resonance imaging revealed a large multilocular cystic mass with canal invasion and bone erosion confined to left S1 body. The lesion showed multiple septal enhancement without definite solid component. Initially the tumor was considered as ABC. The patient underwent grossly-total tumor resection with lumbosacral reconstruction via posterior approach. The tumor was proved to be a cystic schwannoma. The postoperative course was uneventful and the patient was relieved from preoperative symptoms. We present a rare case of pure cystic giant schwannoma confined to sacrum mimicking ABC. The surgical treatment is challenging due to the complex anatomy of the sacrum. Schwannoma should be considered in the differential diagnosis of osteolytic sacral cysts.     

Aneurysmal bone cyst of skull and vertebrae in children. Analysis of own material and review of the literature

Aneurysmal bone cyst (ABC) is a benign, expansive, osteolytic lesion, consisting of blood-filled cysts, capable both of rapid enlargement and spontaneous resolution. Asymptomatic cases have been reported too. The aim of this paper was to analyse the outcomes of surgical treatment of ABC in children and a review of pertinent literature. We adopted the method of retrospective analysis of medical documentation of 10 patients with ABC. These were patients at the Department of Neurosurgery of the Children's Memorial Health Institute (Warsaw, Poland) from 1980 to 2002. There were 2 cases of cranial lesions and 8 cases of vertebral lesions. All the patients underwent surgical treatment only. Total lesionectomy was obtained in 7 cases, subtotal--in 3 cases. With the mean follow-up time of 5.1 years, good outcome (no neurological deficits) was noticed in 5 cases, moderate disability in the form of paraparesis--in 4 cases and full paraplegia--in 1 case. The following perioperative complications were noticed: transient paraplegia (1 case) and recurrence of ABC requiring reoperation (1 case). Among the 8 patients with vertebral lesions, progressive scoliosis requiring instrumental stabilization of the spine was noticed in 5 cases (4 vertebral body lesions and 1 laminar lesion). Primaiy infiltration of vertebral body by an ABC may lead to subsequent progressive scoliosis, which requires instrumental stabilization of spine. This demands careful planning and development of a comprehensive treatment program. ABC in children is a predominantly aggressive lesion, but even subtotal excision does not entrain a recurrence. Localization of lesion at the D3-5 levels is associated with an increased risk of postoperative neurological deterioration. Patients should be treated surgically before the development of severe deficits, which later may prove irreversible.     

Giant epidermoid cyst of the skull with extra and intracranial extension. A case report

Intradiploic epidermoid cyst of the skull is a rare clinical entity that can exceptionally grow to a large size with intracranial extension. The authors report the case of a 38-year-old man with a giant epidermoid cyst of the parietal bone with extra and intracranial extension, presenting with focal neurological symptoms. The diagnosis was suggested at imaging (skull radiographs, CT and MRI), and confirmed at histology. Complete removal of the cyst and its capsule was performed followed by cranioplasty. Postoperatively, the patient was discharged free of symptoms. CT scan provides good evaluation of the bony lesion and may suggest intracranial extension. MRI is superior for evaluation of cerebral compression. The pathogenesis, clinical presentation, diagnostic evaluation and therapeutic management of these rare lesions are reviewed.     

Fibrous Dysplasia with Aneurysmal Bone Cyst Presenting as Painful Solitary Skull lesion

We report a rare case of fibrous dysplasia with the development of a secondary aneurysmal bone cyst presenting as solitary tumor of calvarium. Although fibrous dysplasia with aneurysmal bone cyst is rare, it should be taken into account in differential diagnosis of the osteolytic solitary skull lesion.     

Dermoid cyst of the anterior fontanelle in adults: case report

Head and neck dermoid cysts are relatively rare, and usually occur during childhood as solitary lesions. They are often identified and surgically removed at birth, being uncommon in adults. A 23-year-old male presented with a congenital tumor of the anterior fontanelle, which histopathological examination revealed a dermoid cyst. Surgical intervention is the treatment of choice to remove this lesion. The objective of this study is to report the case, once this type of lesion is rare in adults.     

Aneurysmal bone cyst of the skull

The case of a 6 year old girl with aneurysmal bone cyst (ABC) presenting as a subperiosteal hematoma is reported. Postoperative computerized tomography revealed a new multicystic lesion suggestive of ABC which disappeared spontaneously about 1 month after the operation. The slowly progressing process and spontaneous disappearance of ABC in this case may be noteworthy when considering the surgical indication of this pathology.     

Expanded endonasal endoscopic approach for resection of a large skull base aneurysmal bone cyst in a pediatric patient with extensive cranial fibrous dysplasia

Aneurysmal bone cysts (ABCs) are uncommon non-neoplastic, hemorrhagic, and expansile osseous lesions. These lesions most commonly occur in the first two decades of life and affect the long bones and spinal column. Skull base involvement is rare. The authors report the case of a 16-year-old boy who presented with acute visual decline and was found to have a large skull base ABC centered in the sphenoid sinus. In addition, the patient had extensive cranial fibrous dysplasia. The patient underwent a staged expanded endonasal endoscopic approach for complete resection of this lesion with excellent return of his vision. This case adds to the growing body of evidence supporting a role for expanded endonasal endoscopic procedures in pediatric patients with skull base pathologies.     

Ependymal cyst with hemorrhage in the cerebellopontine angle

Ependymal cysts are rare intracranial neoplasms. These lesions occur in the cerebral parenchyma, subarachnoid space, and juxtaventricular, intraspinal, and intramedullary regions. They occur extremely rarely in the cerebellopontine angle (CPA). There are no prior reports of CPA ependymal cyst with hemorrhage. We report a 79-year-old woman who experienced sudden onset of dizziness and vomiting. A CT scan and MRI revealed a cystic lesion with internal hemorrhage in the left CPA. Surgical resection via a left retrosigmoid approach was performed. Pathological examination revealed that the lesion was an ependymal cyst. To our knowledge, this is the sixth reported case of an ependymal cyst located in the CPA; however, our case had the unique presenting feature of hemorrhage. We review the clinical manifestation, pathogenesis, and management of these cysts.     

Aneurysmal bone cyst of the sphenoid sinus

Aneurysmal bone cyst is an uncommon lesion that occurs mainly in long bones and vertebrae, being the location in the sphenoid sinus extremely rare. Its origin is unknown, but it can be considered as a vascular phenomenon secondary to a primary lesion. Other primary diseases that may be associated to aneurysmal bone cyst are polyostotic fibrous dysplasia and giant-cell tumors. We report the case of a patient with an aneurysmal bone cyst in the sphenoid sinus causing vision dysfunction.     

A rare case of chondromyxoid fibroma of the parietal bone

The authors present a very rare case of the chondromyxoid fibroma (CMF) of the parietal bone. This is an uncommon chondroid tumour which constitutes less than 1% of primary bone tumours and which is usually localised in the metaphysis of the long bones, often in the knee region. There are 23 cases of cranial localisation of the chondromyxoid fibroma reported in several papers, 14 cases involved the cranial base and 9 the calvaria. A different ossification process of the skull-base and calvaria is probably responsible for this distribution. In our case we found the focal, lytic lesion in the parietal bone and fibro-greasy tumour mass. The dura was spared. The tumour was removed totally. Curettage of these kind of lesions should be avoided because it may lead to tumour recurrence. Histologically this tumour may cause problems in a differential diagnosis with other chondroid tumours like chondrosarcoma or chondroblastoma.     

Nasal dermal sinus and dermoid cyst with intrafalcial extension

Congenital nasal dermal sinus is an unusual lesion which comprises about 11%–12% of all cranial dermal sinuses. The sinus tract seldom extends intracranially and an associated intrafalcial inclusion cyst is extremely rare. The authors report a case of nasal dermal sinus and dermoid cyst with intrafalcial extension in a boy aged 1 year 4 month. Previous reports of this rare lesion are reviewed and the possible pathogenesis discussed.     

MR imaging in aneurysmal bone cyst of the orbit

Aneurysmal bone cyst is a benign fibro-osseous lesion usually described in the long bones. Intraorbital aneurysmal bone cyst is a rare clinical entity with an entirely different outcome and prognosis as compared to the usual pediatric orbital tumors. The authors report magnetic resonance imaging (MRI) features of an orbital mass lesion in a 4-year-old child who presented with painless proptosis of right eye. Characteristic MRI findings led to a suspicion of an aneurysmal bone cyst that was totally excised via a right frontotemporal craniotomy. Appreciation of characteristic MRI features can be of extreme help for appropriate diagnosis and management of this rare entity.     

Fibrous Dysplasia of the Clivus

Fibrous dysplasia (FD) of craniofacial structures is well documented, however, its involvement of the clivus is seldom described. We report a case of clival FD in a young man who presented with headache localized to the occipital area. The radiological studies revealed a monostotic disease confined to the clivus, with typical findings of hypointensity on magnetic resonance images and ground-glass density on computed tomography. The diagnosis of FD was confirmed on pathological examination of specimens taken through transsphenoidal surgery. The patient showed reduction of symptoms and no change of residual lesion on follow-up imaging taken 2.5 years later after surgery. This study includes clinical aspect, radiographic appearance, differential diagnosis and treatment strategy of this rare skull base lesion.     

Desarrollo de un linfoma cerebral con relación a un quiste epidermoide de larga evolución

IntroductionEpidermoid cysts (EC) are benign and slow growing lesions. A primary brain lymphoma development related to a EC is presented, second case described in literature.Case presentationA woman 40 years old, harbouring a EC for more than 20 years, develops a fast growing brain lesion next to the EC. Surgery was performed and diagnosis was primary diffuse B cells lymphoma.DiscussionMalignant transformation of EC has been described, usually to squamous cells carcinoma, and much less frequently, to another tumours. Inflammatory mechanisms have been advocated to explain this evolution. Chronic inflammation and lymphoma genesis are related, and this could be the mechanism behind this rare evolution of an EC.ConclusionsEven being benign lesions, EC can develop malignant tumours due to the chronic inflammation secondary to them.