Citations

Object The aim in this study was to describe the clinical presentation, differential diagnosis, and risk for neurofibromatosis Type 2 (NF2) in pediatric patients presenting with cerebellopontine angle (CPA) and internal auditory canal (IAC) tumors. Methods The authors conducted a retrospective study at a tertiary care academic referral center. All patients with an age ≤ 18 years who had presented with an extraaxial CPA or IAC tumor between 1987 and 2012 were included in the study cohort. Data regarding symptoms, diagnosis, tumor characteristics, and NF2 status were collected and analyzed. Results Sixty patients (55% female, 45% male) harboring 87 tumors were identified. The mean age at diagnosis was 12.8 years (median 14.0 years, range 0.9–18.9 years). Schwannomas were the most commonly identified lesions (57 of 87 tumors, including 52 vestibular, 3 facial, and 2 trigeminal schwannomas), followed by meningiomas (5 of 87) and epidermoid cysts (4 of 87). Six malignant tumors were diagnosed, including small-cell sarcoma, squamous cell carcinoma, malignant meningioma, atypical rhabdoid-teratoid tumor, endolymphatic sac tumor, and malignant ganglioglioma. Headache, followed by hearing loss and imbalance, was the most common presenting symptom, whereas dysphagia, otalgia, and facial pain were uncommon. Neurofibromatosis Type 2 was diagnosed in 20 (61%) of 33 patients with vestibular schwannoma (VS), while the other 13 patients (39%) had sporadic tumors. Nineteen of the 20 patients with NF2 met the diagnostic criteria for that disorder on initial presentation, and 15 of them presented with bilateral VS. At the last follow-up, 19 of the 20 patients subsequently diagnosed with NF2 demonstrated bilateral VSs, whereas 1 patient with a unilateral VS and multiple other NF2-associated tumors has yet to demonstrate a contralateral VS to date. Only 1 patient presenting with an isolated unilateral VS and no family history of NF2 demonstrated a contralateral VS on subsequent radiological screening. Conclusions Cerebellopontine angle and IAC tumors in the pediatric population are rare. There are several noteworthy differences between the adult and pediatric populations harboring these lesions. While VS is the most common pathology in both age groups, the lesion was found in only 60% of the pediatric patients in the present study. Unlike in adults, VSs in the pediatric population were associated with NF2 in over one-half of all cases. The majority of pediatric patients with NF2 fulfilled the diagnostic criteria at initial presentation; however, approximately 7% of patients presenting with a seemingly sporadic (no family history of NF2) unilateral VS will meet the criteria for NF2 later in life. Finally, malignancies account for a significantly higher percentage (10%) of cases among pediatric patients. These findings underscore the importance of early screening and close radiological follow-up and may be helpful in patient counseling.

Object The goals of this study were to report the clinical presentation, radiographic findings, operative strategy, and outcomes among patients with temporal bone encephaloceles and cerebrospinal fluid fistulas (CSFFs) and to identify clinical variables associated with surgical outcome. Methods A retrospective case series including all patients who underwent a middle fossa craniotomy or combined mastoid–middle cranial fossa repair of encephalocele and/or CSFF between 2000 and 2012 was accrued from 2 tertiary academic referral centers. Results Eighty-nine consecutive surgeries (86 patients, 59.3% women) were included. The mean age at time of surgery was 52.3 years, and the left side was affected in 53.9% of cases. The mean delay between symptom onset and diagnosis was 35.4 months, and the most common presenting symptoms were hearing loss (92.1%) and persistent ipsilateral otorrhea (73.0%). Few reported a history of intracranial infection (6.7%) or seizures (2.2%). Thirteen (14.6%) of 89 cases had a history of major head trauma, 23 (25.8%) were associated with chronic ear disease without prior operation, 17 (19.1%) occurred following tympanomastoidectomy, and 1 (1.1%) developed in a patient with a cerebral aqueduct cyst resulting in obstructive hydrocephalus. The remaining 35 cases (39.3%) were considered spontaneous. Among all patients, the mean body mass index (BMI) was 35.3 kg/m2, and 46.4% exhibited empty sella syndrome. Patients with spontaneous lesions were statistically significantly older (p = 0.007) and were more commonly female (p = 0.048) compared with those with nonspontaneous pathology. Additionally, those with spontaneous lesions had a greater BMI than those with nonspontaneous disease (p = 0.102), although this difference did not achieve statistical significance. Thirty-two surgeries (36.0%) involved a middle fossa craniotomy alone, whereas 57 (64.0%) involved a combined mastoid–middle fossa repair. There were 7 recurrences (7.9%); 2 patients with recurrence developed meningitis. The use of artificial titanium mesh was statistically associated with the development of recurrent CSFF (p = 0.004), postoperative wound infection (p = 0.039), and meningitis (p = 0.014). Also notable, 6 of the 7 cases with recurrence had evidence of intracranial hypertension. When the 11 cases that involved using titanium mesh were excluded, 96.2% of patients whose lesions were reconstructed with an autologous multilayer repair had neither recurrent CSFF nor meningitis at the last follow-up. Conclusions Patients with temporal bone encephalocele and CSFF commonly present with persistent otorrhea and conductive hearing loss mimicking chronic middle ear disease, which likely contributes to a delay in diagnosis. There is a high prevalence of obesity among this patient population, which may play a role in the pathogenesis of primary and recurrent disease. A middle fossa craniotomy or a combined mastoid–middle fossa approach incorporating a multilayer autologous tissue technique is a safe and reliable method of repair that may be particularly useful for large or multifocal defects. Defect reconstruction using artificial titanium mesh should generally be avoided given increased risks of recurrence and postoperative meningitis.

Object The authors' objective was 2-fold: 1) to compare outcomes of microsurgical resection for vestibular schwannoma (VS) between patients aged 70 years or older and patients younger than 70 years and 2) to test the hypothesis that symptomatic tumors in elderly patients represent a more aggressive variant of VS than those in younger adults, resulting in increased morbidity and a higher rate of recurrence after subtotal resection (STR). Methods A retrospective matched cohort study was conducted. Patients aged 70 years or older who had undergone microsurgical resection of VS were matched to adult patients younger than 70 years; the matching was performed on the basis of surgical approach, completeness of resection, and tumor size. Associations between clinical, radiographic, and surgical data and postoperative outcome were analyzed using conditional logistic regression. Results Twenty patients aged 70 years or older (mean age ± SD 75.9 ± 5.3, range 70–86 years) were identified and matched to a cohort of younger adult patients (mean age ± SD 55.7 ± 13.8, range 25–69 years). The mean tumor size in both groups was approximately 3 cm. Overall, the elderly patients had a poorer preoperative American Society of Anesthesiology physical status score (p = 0.038), were more likely to report imbalance (OR 9.61, p = 0.016), and more commonly exhibited compromised balance and coordination (OR 9.61, p = 0.016) than patients in the younger cohort. There were no differences between the 2 cohorts in perioperative complications (p = 0.26) or facial nerve function (p > 0.5) at any time. The elderly patients were 13 times more likely to have long-term postoperative imbalance (OR 13.00, p = 0.013) than the younger patients. Overall, 9 tumors recurred among 32 patients undergoing STR; 6 of these patients underwent additional interventions (stereotactic radiosurgery in 5 patients and microsurgery in 1) and showed no evidence of tumor progression at the last follow-up. The median growth rate of the recurrent tumor in the 6 elderly patients was 4.8 mm/year (range 2.1–14.9 mm/year) and, in the 3 control patients, 2.2 mm/year (range 1.9–4.0 mm/year). Overall, the mortality data showed a trend toward statistical significance (p = 0.068) with a higher risk of death in the elderly. Conclusions As the number of elderly patients with VS increases, microsurgical resection will remain an important management option for these patients. Despite a poorer preoperative physical status in elderly patients, their morbidity profiles are similar to those in adult patients younger than 70 years. However, elderly patients may require longer convalescence due to prolonged postoperative imbalance. Not surprisingly, overall diminished functional reserve and advanced comorbidities may increase the mortality risk associated with surgical intervention in the elderly patients. Finally, there was a high risk of further tumor growth following STR in the elderly patients (6 [37.5%] of 16), underscoring the need for close postoperative radiological surveillance and consideration of early stereotactic radiosurgery for the tumor remnant following the STR.

AbstractWe previously reported an increased risk of monoclonal gammopathy of undetermined significance (MGUS) in first‐degree relatives of MGUS and multiple myeloma patients. Here, we examine whether primary cytogenetic categories of myeloma differ between patients with and without a family history of MGUS or myeloma. We studied 201 myeloma patients with available data on family history and molecular cytogenetic classification. Myeloma with trisomies was more common in probands who had an affected first‐degree relative with MGUS or myeloma compared with those without a family history (46.9% vs. 33.5%, P = 0.125); however, the difference was not statistically significant. Additional studies on the cytogenetic types of myeloma associated with familial tendency are needed.