The frequency of the hereditary forms of pheochromocytoma/paraganglioma varies depending on the family history and the clinical presentation. A positive family history and an accurate clinical evaluation of patients are strong indicators of which genes should be screened first.

Subtotal petrosectomy combined with cochlear implantation is a procedure required in specific situations and lowers the risk of repetitive ear infections, CSF leakage, and meningitis by closing off all connection with the external environment. Additionally, it gives excellent visibility and access in difficult anatomy or in drill-out procedures. The complication rate of 6% is comparable with normal cochlear implantation. Preservation of residual hearing can be considered the only absolute contraindication as an open external meatus is necessary for use of electroacoustic stimulation. Risks of the SP+CI procedure are infection of the abdominal fat, breakdown of the blind sac closure, and entrapped cholesteatoma. Follow-up with CT imaging is therefore mandatory.

Objective: We aimed to evaluate and compare the auditory performance of neurofibromatosis type 2 (NF2) patients with bilateral total deafness fitted with cochlear or auditory brainstem implants. Patients and Methods: A retrospective case review was performed. Nine patients suffering from NF2 who underwent hearing rehabilitation by means of cochlear (4 patients) or auditory brainstem (5 patients) implantation participated in the study. Postoperative auditory performance was assessed using closed- and open-set tests. Results: In the group of patients fitted with a cochlear implant, 3 subjects achieved open-set speech recognition abilities comparable to those of standard adult postlingual implant patients; the remaining patient scored 0% in all open-set format tests, reporting benefits only in environmental sound detection and lip-reading. Among the 5 patients who underwent auditory brainstem implantation, 1 reached good open-set speech recognition skills, scoring 70% in the common phrases comprehension test, and she was able to communicate on the telephone. Two other patients achieved open-set speech understanding (respectively, 33 and 41% in the common phrases comprehension test), reporting daily use of their device. The remaining 2 patients did not achieve any level of open-set speech perception, obtaining only improved access to environmental sound and lip-reading skills. Conclusions: Our study confirmed literature data reporting that cochlear implantation may offer open-set speech communication in NF2 patients. In this small cohort, cochlear implant patients performed better than auditory brainstem implant patients, even if variability in auditory performance was observed with both devices. More studies are needed in order to clarify the role and reliability of electrophysiological tests in predicting the residual functionality of the cochlear nerve after tumor removal.

Head and neck paragangliomas (HNPGLs) are neural crest-derived tumors. In comparison with paragangliomas located in the abdomen and the chest, which are generally catecholamine secreting (sPGLs) and sympathetic in origin, HNPGLs are, in fact, parasympathetic in origin and are generally nonsecreting. Overall, 79 consecutive patients with HNPGL were examined for mutations in SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, MAX, and TMEM127 genes by PCR/sequencing. According to a detailed family history (FH) and clinical, laboratory (including metanephrines), and instrumental examinations, patients were divided into three groups: a) patients with a positive FH for HNPGL (index cases only), b) patients with a negative FH and multiple HNPGLs (synchronous or metachronous) or HNPGL associated with an sPGL, and c) patients with negative FH and single HNPGL. The ten patients in group a) proved to be SDHD mutation carriers. The 16 patients in group b) proved to be SDHD mutation carriers. Among the 53 patients in group c), ten presented with germ-line mutations (three SDHB, three SDHD, two VHL, and two SDHAF2). An sPGL was found at diagnosis or followed up in five patients (6.3%), all were SDHD mutation carriers. No SDHC, SDHA, MAX, and TMEM127 mutations were found. In SDHD mutation carriers, none of the patients affected by HNPGL associated with sPGL presented missense mutations. In conclusion, a positive FH or the presence of multiple HNPGLs is a strong predictor for germ-line mutations, which are also present in 18.8% of patients carefully classified as sporadic. The most frequently mutated gene so far is SDHD but others, including SDHB, SDHAF2, and VHL, may also be affected.

There is considerable debate in the management of almost every complication of cholesteatoma. Multicentric studies to compare the efficacies of various treatment modalities are the need of the hour to come to definitive conclusions regarding the best treatment options.