Genetic analysis in the diagnosis of familial paragangliomas.

OBJECTIVES: In the management of two related patients with multicentric glomus jugulare tumors, given the incidence of 1:30,000 with approximately 20% familial cases, our objective was to review the genetic characteristics and inheritance patterns of these tumors and to determine what molecular genetic screening possibilities exist for the phenotypically normal family members. In addition, our aim was to review the incidence of various multicentric paraganglioma (PGL) tumor location combinations. METHODS: Molecular genetic linkage analysis testing was performed on the 2 patients and 14 other unaffected family members. We report the results of this screening and review the literature on the incidence and genetics of paragangliomas. RESULTS: The inheritance pattern in the literature demonstrates autosomal dominant transmission with maternal imprinting (inactivation). The proclivity for multicentric origin increases to 26% in familial cases, as reflected in our patients. In addition to the two patients, four unaffected family members demonstrated the presence of the disease haplotype at chromosome band 11q23, which indicates a very high likelihood of developing a paraganglioma, given the highly penetrant nature of the disease. CONCLUSIONS: It is clear that the familial PGL gene locus is situated at chromosome 11q23. The gene itself and its exact degree of penetrance, however, still await identification. Since early detection of paragangliomas reduces the incidence of morbidity and mortality, genotypic analysis as a screening tool in families of affected patients should play a front-line diagnostic role, leading to more timely and cost-effective patient management.

To abandon or not abandon: antesigmoid craniotomy with retrolabyrinthine vestibular nerve section.

Increasing popularity of the retrosigmoid approach would have one believe this is the preferred posteriorfossa approach for a vestibular nerve section. The authors take issue with this. The antesigmoid posterior lateral retrolabyrinthine approach is a gentle craniotomy, easily performed and with low morbidity. A review of 70 consecutive cases revealed no procedural alteration because of surgical exposure, an absence of meningitis, no VIIth nerve weakness, minimal headache, average hospital stay of five days, and only one patient with a significant CSF leak. Hyperventilation anesthesia, patience during delicate VIIIth nerve exposure, incorporation of abdominal fat into dural closure sutures and prophylactic antibiotics have made this operation easy for the patient...and the surgeon. Don't abandon it!

Magnetic resonance imaging shows gadolinium enhancement of intradural herniated disc.

STUDY DESIGN: A patient with a herniated intradural disc at L2-L3 and an extradural herniated disc at L5-S1 had homogeneous enhancement of the intradural disc on magnetic resonance imaging. BACKGROUND DATA: The only prior report of intradural disc enhancement with contrast on magnetic resonance imaging showed nonhomogeneous peripheral or ring enhancement. RESULTS: Magnetic resonance and computed tomography images and myelogram films are presented, with an operative photograph. CONCLUSIONS: Enhancement likely depends on the age of the intradural disc herniation.

The role of early surgical intervention in civilian gunshot wounds to the head.

Surgical management of gunshot wounds of the head has remained a controversial issue in the care of civilian patients. In an attempt to determine who might benefit from aggressive surgical intervention, we examined 89 patients over a 3-year period who had suffered cranial gunshot wounds and had at least one computed tomographic scan of the head after admission. Patients were divided into those receiving early (less than 24 hours) surgical intervention (ES, n = 27), late (greater than 24 hours) surgical intervention (LS, n = 6) or no surgical intervention (NS, n = 56). Overall mortality was 63%. Ten of 27 patients (37%) in the ES group died compared with 46 of 56 patients (82%) in the NS group (p less than 0.0001). Glasgow Coma Scale (GCS) scores in the ES group averaged 7.86 +/- 4.72 and in the NS group 5.59 +/- 4.42 (p less than 0.05). The GCS scores in the LS group (all of whom survived) were significantly higher than those of the other two groups, 12.17 +/- 4.10. The number of patients with GCS scores of 3 or 4 on admission was significantly less in the ES (41%) than in the NS group (66%, p = 0.035) and survival was better with surgery (36%) than without (3%, p = 0.007). Patients with mass lesions (clot, ventricular blood) were more often found in the ES group (17/27) than in the NS group (18/56) (p = 0.008). Patients with bihemispheric injuries fared better with surgery (7 of 14 survivors) than without (2 of 33 survivors, p = 0.0003). Only one infectious complication (brain abscess) was encountered in the LS group. No delayed intracranial complications in survivors in the NS group were seen.(ABSTRACT TRUNCATED AT 250 WORDS)

Feasibility of multichannel human cochlear nucleus stimulation.

Bipolar electrical stimulation of the brainstem cochlear nucleus (CN) following acoustic tumor removal in an only-hearing ear can provide beneficial hearing. However, the benefits of multichannel stimulation have yet to be defined. Following removal of a second acoustic tumor in a patient with neurofibromatosis 2, a Nucleus mini-22 channel implant device was inserted with the electrode array tip from the foramen of Luschka cephalad along the root entry zone of the eighth nerve, secured by a single suture superficially in the brain stem. Initial stimulation on the sixth postoperative day indicated that electrodes 18 to 22 were capable of CN stimulation without seventh nerve stimulation. Presumed electrode migration precluded further CN stimulation 1 month later. This report illustrates the feasibility of brainstem CN stimulation with an existing multichannel system.

The benefits of VII-VII neuroanastomosis in acoustic tumor surgery.

Division of the seventh nerve during acoustic tumor removal cannot always be avoided. Direct VII-VII neuroanastomosis is superior to any other neuroanastomosis for facial reanimation. Rerouting of the seventh nerve from the mastoid and neuroanastomosis can be accomplished primarily at the initial surgery. This study reviews 19 patients with a follow-up of greater than 18 months who underwent the procedure at the time of tumor removal because of seventh nerve involvement by tumor, intentional sacrifice or, rarely, unintentional division. A House class IV result or better, without the twelfth nerve neurological deficit produced by a VII-XII neuroanastomosis, was achieved in 16 of 19 patients. Although the technique is not new, surgeons unprepared to manage this surgical complication at primary tumor removal should either learn the technique, work with an associate who can do so, or be prepared to call in someone else to do it.

Recurrent acoustic tumor after a suboccipital removal.

Surgery for acoustic tumors has several priorities. First and foremost is the preservation of life with the total removal of the tumor; second is the preservation of the facial nerve; and last, when applicable, is the preservation of hearing. During the suboccipital (retrosigmoid) removal of a tumor, the surgeon unknowingly may leave tumor remnants leading to regrowth. We present five cases of recurrent acoustic tumors after a suboccipital removal. Inadequate drilling exposure of the internal auditory canal was the probable direct cause for tumor recurrence. A translabyrinthine removal is the best approach for total exposure of the entire internal auditory canal. The consequences of small tumor remnants will be discussed as well as their clinical relevance. Current radiological imaging and surgical techniques that avoid residual tumor will be presented.

Cerebellar astrocytomas in elderly patients with very long preoperative histories: report of three cases.

Three patients, ages 69, 67, and 74 years, respectively, underwent surgical removal of cystic cerebellar astrocytomas. All three had past histories pointing to the existence of a cerebellar lesion for many decades prior to surgery: Patient 1 had had nystagmus on lateral gaze on the side of the tumor since early childhood; Patient 2 had had sensorineural hearing loss on the side of her neoplasm for 38 years preceding the operation; and Patient 3 was diagnosed as having a brain tumor 51 years before the operation. (He has been blind because of pressure hydrocephalus for half a century, but otherwise managed to live a productive farming and family life until he sustained a head injury in a car accident, which forced him to undergo removal of his cerebellar tumor.) The neoplasms in all three instances were found by histological examination to be low-grade astrocytomas. These cases indicate that low-grade cerebellar astrocytomas, which are well known for their characteristically long postoperative courses, may at times manifest a slow growth potential with an exceptionally long preoperative course.