Endolymphatic sac tumor demonstrated by intralabyrinthine hemorrhage. Case report

Endolymphatic sac tumors (ELSTs) are locally invasive neoplasms that arise in the posterior petrous bone and are associated with von Hippel-Lindau (VHL) disease. These tumors cause symptoms even when microscopic in size (below the threshold for detectability on imaging studies) and can lead to symptoms such as hearing loss, tinnitus, vertigo, and facial nerve dysfunction. While the mechanisms of audiovestibular dysfunction in patients harboring ELSTs are incompletely understood, they have critical implications for management. The authors present the case of a 33-year-old man with VHL disease and a 10-year history of progressive tinnitus, vertigo, and left-sided hearing loss. Serial T1-weighted magnetic resonance (MR) imaging and computed tomography scans revealed no evidence of tumor, but fluid attenuated inversion recovery (FLAIR) MR imaging sequences obtained after hearing loss demonstrated evidence of left intralabyrinthine hemorrhage. On the basis of progressive disabling audiovestibular dysfunction (tinnitus and vertigo), FLAIR imaging findings, and VHL disease status, the patient underwent surgical exploration of the posterior petrous region, and a small (2-mm) ELST was identified and completely resected. Postoperatively, the patient had improvement of the tinnitus and vertigo. Intralabyrinthine hemorrhage may be an early and the only neuroimaging sign of an ELST in patients with VHL disease and audiovestibular dysfunction. These findings support tumor-associated hemorrhage as a mechanism underlying the audiovestibular dysfunction associated with ELSTs.     

The vestibular aqueduct: site of origin of endolymphatic sac tumors

OBJECT: Although endolymphatic sac tumors (ELSTs) frequently destroy the posterior petrous bone and cause hearing loss, the anatomical origin of these neoplasms is unknown. To determine the precise topographic origin of ELSTs, the authors analyzed the imaging, operative, and pathological findings in patients with von Hippel-Lindau disease (VHL) and ELSTs. METHODS: Consecutive VHL patients with small (相似文献   

Endolymphatic sac tumour. A case report.

We present the case of a patient with an endolymphatic sac tumour (ELST). This rare tumour entity has only recently been defined and despite a well characterized clinical appearance misdiagnosis as jugular paraganglioma is frequent. A 68-year-old woman was admitted to our Neurosurgical Department with a mass lesion extending from the left temporal bone to the cerebello-pontine angle (CPA). Radiological features were high vascularization, contrast enhancement and destruction of the os petrosum. After preoperative angiographic embolization the tumour was removed in two surgical interventions, first via a lateral suboccipital approach and second by petrosectomy. The lesion proved to be a typical endolymphatic sac tumour by a synopsis of histological, radiological and clinical features. ELST should be taken into consideration in patients with mass lesions in the cerebellopontine angle destroying the petrous bone and resembling paraganglioma. Since slow growth rate and lack of metastases are particular features of ELST, complete resection of the tumour results in long survival times without adjuvant chemo- or radiotherapy.     

Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: implications for their natural history, diagnosis, and treatment

OBJECT: Endolymphatic sac tumors (ELSTs), which often are associated with von Hippel-Lindau (VHL) disease, cause irreversible hearing loss and vestibulopathy. Clinical and imaging surveillance protocols provide new insights into the natural history, mechanisms of symptom formation, and indications for the treatment of ELSTs. To clarify the uncertainties associated with the pathophysiology and treatment of ELSTs, the authors describe a series of patients with VHL disease in whom serial examinations recorded the development of ELSTs. METHODS: Patients with VHL disease were included if serial clinical and imaging studies captured the development of ELSTs, and the patients underwent tumor resection. The patients' clinical, audiological, and imaging characteristics as well as their operative results were analyzed. Five consecutive patients (three men and two women) with a mean age at surgery of 34.8 years and a follow-up period of 6 to 18 months were included in this study. Audiovestibular symptoms were present in three patients before a tumor was evident on neuroimaging. Imaging evidence of an intralabyrinthine hemorrhage coincided with a loss of hearing in three patients. Successful resection of the ELSTs was accomplished by performing a retrolabyrinthine posterior petrosectomy (RLPP). Hearing stabilized and vestibular symptoms resolved after surgery in all patients. No patient has experienced a recurrence. CONCLUSIONS: Audiovestibular symptoms, including hearing loss, in patients with VHL disease can be the result of microscopic ELSTs. Once an ELST has been detected, it can be completely resected via an RLPP with preservation of hearing and amelioration of vestibular symptoms. Early detection and surgical treatment of small ELSTs, when hearing is still present, should reduce the incidence and severity of hearing loss, tinnitus, vertigo, and cranial nerve dysfunction, which are associated with these tumors.     

Surgical treatment of endolymphatic sac tumor with adjunctive stereotactic radiation therapy--case report

A 44-year-old man presented with an endolymphatic sac tumor (ELST) associated with von Hippel-Lindau disease, which required four surgical procedures within 10 years. The earlier two surgeries resulted in only partial removal of the tumor because of vigorous intraoperative bleeding. Stereotactic radiation therapy was performed twice. The intraoperative bleeding was easy to control in the third operation, and ultimately the tumor was totally extirpated in the fourth operation. Histological examination of the tumor specimen harvested in the final surgery showed that the tumor cells had clearly decreased in number, and the interstitial tissue had become fibrous with organization of the tumor vessels, compared with the tumor specimen from the first surgery. Preoperative radiotherapy may be effective to reduce the devastating intraoperative bleeding of ELST.     

Papillary tumor of the temporal bone.

Papillary tumors of the middle and inner ear have been interpreted histogenetically in many ways. In 1989 Heffner proposed the endolymphatic sac epithelium as a possible origin. These rare tumors are clinically aggressive and can cause extensive temporal bone destruction. Because of this behavior, endolymphatic sac tumors (ELST) were classified as low-grade adenocarcinomas, although metastasis has not yet been documented. Two papillary neoplasms of the temporal bone are presented, which we believe are examples of adenomatous tumors arising from the epithelium of the endolymphatic sac. One was associated with a pituitary adenoma. A third case of a papillary middle ear neoplasm is described that shows histologic features similar to the other two, but it was located in the tympanum and had no connection to the endolymphatic sac. This report focuses on clinical, radiologic, and histologic findings of papillary tumors of the temporal bone with additional emphasis on modern concepts of histogenesis and aspects of differential diagnosis.     

Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report

In endolymphatic sac tumors associated with von Hippel-Lindau disease, early detection and surgery have been warranted to avoid associated neurological morbidity. However, in lately discovered tumors, hearing preserving surgery is often impossible and timing of surgical resection is difficult to define. We report two cases of tumors revealed by a sudden and profound hearing loss and managed conservatively for more than 15 years without worsening of the neurological symptoms associated with the endolymphatic sac tumor. Tumor size remained stable for the first patient and a stuttering growth pattern was observed for the second patient. Initial observation may be considered a not unreasonable management paradigm in these cases.     

Conservative management of endolymphatic sac tumors in von Hippel–Lindau disease: case report

In endolymphatic sac tumors associated with von Hippel–Lindau disease, early detection and surgery have been warranted to avoid associated neurological morbidity. However, in lately discovered tumors, hearing preserving surgery is often impossible and timing of surgical resection is difficult to define. We report two cases of tumors revealed by a sudden and profound hearing loss and managed conservatively for more than 15 years without worsening of the neurological symptoms associated with the endolymphatic sac tumor. Tumor size remained stable for the first patient and a stuttering growth pattern was observed for the second patient. Initial observation may be considered a not unreasonable management paradigm in these cases.     

Extraosseous endolymphatic sac low-grade adenocarcinoma mimicking posterior fossa meningioma.

Low-grade adenocarcinoma arising from the endolymphatic sac is an uncommon tumor that is characterized clinically by hearing loss and radiologically by temporal bone destruction. The authors report a case of low-grade adenocarcinoma of endolymphatic sac origin that mimicked a posterior fossa meningioma in both clinical and neuroimaging examinations. In this case, the most unusual and interesting feature was the lack of auditory symptoms and temporal bone destruction. The lesion occurred in a 21-year-old man who presented with headaches that had been increasing in frequency for 6 months and was associated with blurring of vision, diplopia, occasional nausea and vomiting, and gait disturbance. On examination, this patient exhibited bilateral papilledema, left sixth cranial nerve palsy, and gait ataxia. Neuroimaging studies revealed a large right posterior fossa tumor. At surgery, a hemorrhagic papillary adenocarcinoma of endolymphatic sac origin was found.     

Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome

AIM: Von Hippel-Lindau (VHL) disease is a genetic syndrome predisposing to central nervous system (CNS) hemangioblastomas and several lesions in many organs. The cases of all VHL individuals operated on in the Neurosurgical Unit of Padua Hospital since year 2000 were reviewed in order to define which features lead to surgical treatment and to examine surgical outcome during postoperative follow-up. METHODS: The authors evaluated 20 VHL subjects (7 males and 13 females, age at surgery 32+/-10 years) who underwent 28 operations in order to remove 48 CNS hemangioblastomas and 1 endolymphatic sac tumor. Among the 49 resected lesions, 21 (42%) were cerebellar, 9 (18%) at brainstem, 19 (38%) spinal (7 cervical, 6 dorsal, 6 at cone-cauda level), and 1 (2%) endolymphatic sac tumor in the petrous bone. Patients were graduated according to Karnofsky Performance Status (KPS) at admission, at discharge and during the last follow up visit. Genetic testing revealing the presence of a VHL disease-causing mutation was a prerequisite for inclusion in the study. RESULTS: Nineteen individuals (95%) were symptomatic. Symptomatic hemangioblastomas were associated with a cyst or a syrinx in 22/27 circumstances (81%). Total removal, as confirmed by postoperative magnetic resonance imaging (MRI), was achieved in all but one lesion. Following surgery, at follow-up (38+/-20 months), patients improved their neurological status in 75% of cases, 20% remained stable and 5% worsened; 16 patients (80%) are able to carry on normal activity with or without minor symptoms, 3 patients require some grade of assistance, 1 patient died because of bronchopneumonia. CONCLUSION: VHL-associated hemangioblastomas generally affect a young adult population and can be successfully removed, either when symptomatic, or when they reach a critical volume. Microsurgery of hemangioblastomas has a favourable impact on survival and quality of life of VHL patients, although it is strongly influenced by preoperative conditions. Transient surgical complications are possible, particularly with brainstem and spinal cord hemangioblastomas.     

Central neurocytoma revealed by intraventricular hemorrhage. A case report and review of the literature

A case of intraventricular tumor presenting with intraventricular hemorrhage in a 38-year-old man is reported. Initial symptoms were an acute onset of headache with projectile vomiting. CT-scan revealed intraventricular hemorrhage. Cerebral angiography did not show any vascular malformation. MRI study, performed initially and several days after, disclosed and confirmed the presence of an intraventricular mass. The patient was operated on via a transfrontal route, and a complete tumor removal was achieved. Pathological examination was consistent with a central neurocytoma. Two similar cases from the literature are discussed with respect to differential diagnosis and practical management considerations.     

Endolymphatic sac tumor metastatic to the spine. Case report

Endolymphatic sac tumors (ELSTs) are aggressive papillary lesions of the temporal bone. Although histologically benign, they may exhibit invasive growth and destruction of the skull base. Patients generally present with symptoms referable to the lesion's location within the middle or posterior cranial fossa. Although well characterized as a distinct entity, ELSTs involved in metastatic dissemination have never been reported. In the present report the authors describe a case of ELST metastatic to the spine treated with resection.     

Contrasting behavior of endolymphatic sac tumors: a report of 2 cases and literature review

BACKGROUND: Endolymphatic sac is an established source of low-grade neoplasms, posing a difficult problem in local tumor control. CASE DESCRIPTION: Two cases of endolymphatic sac tumors are described in detail with regard to their clinical presentation and radiological findings. Both cases had diametrically opposite clinical outcomes in spite of repeated surgical interventions. A case with severe paraneoplastic syndrome and death after "cancer cachexia" is described. CONCLUSIONS: Although endolymphatic tumors are known for their low-grade aggressiveness, in occasional cases, they may behave in a highly malignant behavior. The present communication highlights the contrast in clinical outcome and makes the clinician cautious of this special subgroup of tumors with a highly aggressive nature.     

Endolymphatic sac tumors

Tumors of the endolymphatic sac are rare and can be found in patients with Von Hippel Lindau disease. They most often develop within the intrapetrosal part of the sac but can sometimes be located in the distal part. Their growth is slow and they spread in two directions: laterally toward the external and middle ear and in the direction of the jugular foramen and medially into the ponto-cerebellar angle. The symptoms are usually auditive, with a constant neurosensorial deafness of sudden onset in 50 % of cases and sometimes associated with a tinnitus and dizziness. The varieties with medial extension result in a cerebellopontine angle syndrome. Diagnosis is made by imaging (CT scan and MRI) that reveals a heterogeneous tumor between the lateral sinus and the internal auditory meatus, hypervascularized showing contrast, with cystic zones and associated with bone lysis. Histological examination of a papillary cystadenoma is performed and the differential diagnosis is essentially made with a papillary of the choro?d plexus. They require total surgical excision in order to avoid possible recurrence and can be performed by retrosigmo?d approach, or more ideally, by transpetrosal approach.     

Aggressive papillary tumor of the temporal bone: delayed extensive recurrence following radiation therapy

Endolymphatic sac tumors have been characterized as aggressive papillary tumors of the temporal lobe, exhibiting extensive bony destruction and intracranial extension. This report describes the delayed recurrence of an aggressive endolymphatic sac tumor following full course radiotherapy many years previously. The discussion reviews the current literature on these aggressive lesions with emphasis on clinical presentation, diagnosis, radiographic and histologic appearance and management. This case highlights the need for total surgical excision in the management of these lesions. Radiotherapy as primary management may slow tumor growth but does not appear to be an appropriate therapeutic modality for cure.     

Aggressive Papillary Tumor of the Temporal Bone: Delayed Extensive Recurrence Following Radiation Therapy

Endolymphatic sac tumors have been characterized as aggressive papillary tumors of the temporal lobe, exhibiting extensive bony destruction and intracranial extension. This report describes the delayed recurrence of an aggressive endolymphatic sac tumor following full course radiotherapy many years previously. The discussion reviews the current literature on these aggressive lesions with emphasis on clinical presentation, diagnosis, radiographic and histologic appearance and management. This case highlights the need for total surgical excision in the management of these lesions. Radiotherapy as primary management may slow tumor growth but does not appear to be an appropriate therapeutic modality for cure.     

Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome

Pendred syndrome is a recessive autosomal disorder characterized by thyroid goiter and sensorineural hearing loss. The Pendred syndrome gene (SLC26A4) encodes a new anion exchanger named pendrin which mediates iodide transport by thyrocytes and regulates ion and fluid transport by the endolymphatic sac epithelium. Pendrin defects result in inner ear malformations, with enlargement of the endolymphatic sac and duct in association with a large vestibular aqueduct. Furthermore, patients may develop endolymphatic hydrops requiring diuretic therapy, mainly in the form of thiazides. Pendrin could also account for apical Cl(-)/ HCO3(-) exchange at level of intercalated cells of the cortical collecting duct in the kidneys, however, humans with Pendred syndrome have no symptoms attributable to renal pendrin abnormalities in basal conditions. We report the case of a child with Pendred syndrome and intercurrent endolymphatic hydrops, who developed profound hypokalemia and severe hypochloremic metabolic alkalosis (potassium 1.7, chloride 70, sodium 129, HCO3 43.8, base excess +17.8 mmol/l, pH 7.52) following thiazide therapy. In subjects with Pendred syndrome thiazide therapy seems to provoke more severe Cl(-) and extracellular volume depletion. A possible explanation could be the defective action of the disrupted pendrin, which exacerbates the effects of the inhibition of C1(-) reabsorption mediated by the thiazide-sensitive NaCl cotransporter (SLC12A3).     

Technique for transmission and immunoelectron microscopy of the human endolymphatic sac and vestibular epithelia

A surgical technique is presented to obtain the entire vestibular aqueduct, containing the endolymphatic duct and sac as well as the vestibular epithelia, from the maculae and cristae during labyrinthectomy. The inner ear tissue was fixed in 3% glutaraldehyde, decalcified in 0.1 mol/L Na-EDTA, and routinely processed for transmission electron microscopy, including post-fixation with osmium tetroxide. Postembedding protein A-colloidal gold immunoelectron microscopy was performed after exposure of cellular antigenic sites by sodium metaperiodate. To validate this technique, thin sections from the crista ampullaris and the endolymphatic sac were incubated with antibodies raised against S-100, a protein present in specific types of neural tissue. Specific immunoreactivity was observed in the crista ampullaris, but not in the endolymphatic sac. The surgical biopsy technique described provides a means for the neuro-otologist to collect inner ear tissue from surgical patients that can be used for pathological studies using immunohistochemistry and electron microscopy.     

The postoperative spine. Magnetic resonance imaging

MRI is rapidly becoming the imaging modality of choice in the diagnostic assessment of patients with persistent or recurrent symptoms following spinal surgery. It displays the normal postoperative findings as well as most causes of FBSS. MRI can differentiate persistent or recurrent disk herniation from postoperative scar formation with a greater degree of confidence than other imaging modalities. MRI can determine clinically important functional instability when CT and conventional radiography are inconclusive. This can be particularly helpful in evaluating the patient with multiple lumbar surgeries. MRI can also determine the presence of other causes of the FBSS such as lateral spinal stenosis, arachnoiditis, fat graft compression on the thecal sac, and presence of postoperative hematoma or postoperative infection.