When alarm bells ring: emergency tinnitus

OBJECTIVE: The aim of this study is to develop a diagnostic-therapeutic algorithm for those suffering from tinnitus who seek emergency aid. MATERIALS AND METHODS: A literature review has been performed on articles from the last 30 years. RESULTS: It is important to activate medical or surgical diagnostic and therapeutic strategies, in order to safeguard and rehabilitate the various functions affected. Psychiatric comorbidity is the most frequent pathological condition of those with serious or catastrophic tinnitus. In these cases, mortality risk is linked to suicide, morbidity to tinnitus-correlated distress. CONCLUSIONS: Tinnitus, mainly linked to loss of hearing, is a frequent symptom among the population at large. About 7% of those affected by tinnitus turn to their doctor to solve their problem, while between 0.5 and 2% request urgent medical assistance. Their cry for help may be the result of an acute onset of tinnitus or the rapid impairment of an already chronic condition. Tinnitus is not considered an urgent ear, nose and throat (ENT) condition by the Associazione Otorinolaringologi Ospedalieri Italiani (AOOI) [Italian Association of Hospital ENT], even though there are many pathological conditions, sometimes serious, associated with tinnitus and emergency action is necessary to reduce the risk of morbidity and mortality

Ophthalmic manifestation in neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Moreover, optic disk edema, optical atrophy, motility disorders, pupil and lid dysfunction, and neurotrophic keratitis can be observed as indirect signs. An observational study was conducted with the aim to collect clinical data and describe the most frequent NF2 ocular manifestations. Fourteen patients affected by NF2, according to the Manchester criteria, were enrolled. All patients underwent complete ophthalmologic and orthoptic evaluation and a spectral domain optical coherence tomography. Ocular manifestations were present in all patients. The slit lamp evaluation of the anterior segment highlighted cataracts in five patients, keratitis in two patients, corneal leukoma in two patients, and corneal pannus in one patient. Fundus oculi and OCT evaluation identified epiretinal membranes in four patients, vitreoretinal tufts in three patients, optic nerve edema in one patient, and retinal hamartoma in one patient. Moreover, the orthoptic evaluation identified different types of ocular motility disorders in seven patients. This is a descriptive study of a rare disease with poor previous literature. Clinical data are shown, emphasizing the role of NF2-specific ophthalmological and orthoptic findings to help establish an early diagnosis

Oculomotor nerve schwannoma: case series and literature review

PURPOSE: To develop an algorithm in order to establish a consensus on how oculomotor nerve schwannomas should be treated by reviewing results from reported cases in the literature. Given the rarity of oculomotor nerve schwannomas, there is no agreed upon criteria for when a surgical or a nonsurgical intervention would be indicated. By reviewing former cases of oculomotor nerve schwannomas, our study proposes a flowchart for physicians to follow for optimal management. METHODS: The review of reported oculomotor nerve schwannoma cases involved 51 cases. From the 51 cases, data was tabulated including age, patient symptoms, symptom duration, tumor size, tumor location, treatment, post operative results, and follow up time. The cases were then divided in to surgical subgroup and a nonsurgical subgroup. Each case was also grouped based on post operative oculomotor function into improved, no change, and worsened groups. Our collaboration with Tufts Medical center also yielded 4 unreported cases of oculomotor nerve schwannoma that are described and compared to the previous 51 cases from the literature review. RESULTS: The review of the 51 reported cases yielded a few statistically significance differences between the surgical and nonsurgical subgroups. The surgical subgroup was older with a mean age of 35 years than the nonsurgical subgroup with a mean age of 15.8 years. The surgical group also had larger tumors with a mean tumor diameter of 29.5 mm versus the nonsurgical subgroup's 4.5 mm mean tumor diameter. The surgical subgroup also experienced shorter symptom durations as well. The mean duration of symptoms in the surgical subgroup was 17.8 months versus the 140 month mean symptom duration for the nonsurgical cases. Finally, the majority of surgically treated cases experienced a worsening of residual oculomotor function (20/38), while the majority of nonsurgically treated cases experienced little to no change in oculomotor function (11/13). CONCLUSION: Given the high likelihood of complete third nerve palsy after surgery, this study advocates a conservative approach to oculomotor nerve schwannomas that do not present with any life threatening symptoms or acutely deteriorating symptoms. The cases that are presented in this study also corroborate previous studies' findings on the efficacy of stereotactic radiosurgery in managing schwannoma size without resorting to more invasive interventions

The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports.

OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in 12 years old (27.8%). One-third of cases had a chromosomal abnormality or syndrome (n = 8 PHACE), 27% had a cardiovascular condition (n = 7 Patent Ductus Arteriosus), 24% had a disease of eye and ear (n = 9 cataract); most common malignancy was nephroblastoma (n = 8, all Asian). Almost one-fifth had a mental illness diagnosis; only 6.4% had mild or severe intellectual disability. CONCLUSION: The spread of comorbidities calls for early diagnosis and multidisciplinary research and practice, especially as many cases remain clinically asymptomatic for years

Neurofibromatosis Type 1 and Type 2 Associated Tumours: Current trends in Diagnosis and Management with a focus on Novel Medical Therapies

Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are distinct single gene disorders, which share a predisposition to formation of benign nervous system tumours due to loss of tumour suppressor function. Since identification of the genes encoding NF1 and NF2 in the early 1990s, significant progress has been made in understanding the biological processes and molecular pathways underlying tumour formation. As a result, identifying safe and effective medical approaches to treating NF1 and NF2-associated tumours has become a focus of clinical research and patient care in recent years. This thesis presents a comprehensive discussion of the complications of NF1 and NF2 and approaches to treatment, with a focus on key tumours in each condition. The significant functional impact of these disorders in children and young adults is illustrated, demonstrating the need for coordinated care from experienced multidisciplinary teams. Response of the first Australian patients offered novel medications under careful prospective monitoring for safety and efficacy, is described. The approach to treatment trials including principles of patient selection, rationale for candidate medication choices, and identification of appropriate outcome measures are outlined. Treatment response is assessed utilizing multiple criteria including radiologic response, functional status and patient reported outcomes. Tumours considered include plexiform neurofibromas in NF1, treated with the protein tyrosine kinase inhibitor imatinib, with limited benefit. In NF2, vestibular schwannomas were treated using the vascular endothelial growth factor inhibitor bevacizumab, showing definite benefit in a proportion of patients. Refinements in the clinical approach to NF-associated tumours are discussed, considering results from this early experience. Optimizing tumour surveillance prior to intervention, identifying the most potent yet tolerable agents for use, determining when medical therapy should be utilized in concert with surgical and other approaches, and establishing ways of stratifying individual risk of disease complications and likelihood of treatment benefit, remain important questions for the future

Mediastinal masses - the bad, the ugly and the unusual!

Background: Differential diagnosis of mediastinal masses is wide and management of individual cases can be challenging. In addition to common malignancies e.g. lymphomas and thymomas. Many other benign and malignant conditions can present with mediastinal masses. Patients and Methods: We describe five patients with a diagnosis of mediastinal mass. We wish to showcase the range of diagnosis possible in these situations. This is followed by a brief discussion on the general approach to such cases. Conclusion: A good history, detailed careful clinical examination, judicious use of imaging and investigations e.g. blood counts and tumour makers can give a vital clue to the diagnosis of mediastinal mass

Neuro-ophthalmic complications of vestibular schwannoma resection : current perspectives

Vestibular schwannomas (VSs), also called acoustic neuromas, are benign intracranial neoplasms of the vestibulocochlear (VIII) cranial nerve. Management options include “wait-and-scan,” stereotactic radiosurgery and surgical resection. Due to the proximity of the VIII nerve to the facial (VII) nerve in the cerebello-pontine angle, the VII nerve is particularly vulnerable to the effects of surgical resection. This can result in poor eye closure, lagophthalmos and resultant corneal exposure post VS resection. Additionally, compression from the tumor or resection can cause trigeminal (V) nerve damage and a desensate cornea. The combination of an exposed and desensate cornea puts the eye at risk of serious ocular complications including persistent epithelial defects, corneal ulceration, corneal vascularization, corneal melting and potential perforation. The abducens (VI) nerve can be affected by a large intracranial VS causing raised intracranial pressure (a false localizing sign) or as a result of damage to the VI nerve at the time of resection. Other types of neurogenic strabismus are rare and typically transient. Contralaterally beating nystagmus as a consequence of vestibular dysfunction is common post-operatively. This generally settles to pre-operative levels as central compensation occurs. Ipsilaterally beating nystagmus post-operatively should prompt investigation for post-operative cerebrovascular complications. Papilledema (and subsequent optic atrophy) can occur as a result of a large VS causing raised intracranial pressure. Where papilledema follows surgical resection of a VS, it can indicate that cerebral venous sinus thrombosis has occurred. Poor visual function following VS resection can result as a combination of all these potential complications and is more likely with larger tumors