Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: Case report.

INTRODUCTION: The well-described entity of Subependymal Giant Cell Astrocytoma (SEGA) in the setting of Tuberous Sclerosis Complex (TSC) is profound in current literature. It has been described in children as well as adults with or without identifiable clinical presentations of tuberous sclerosis. To our knowledge there has not been any report of a negative genetic workup of Tuberous Sclerosis Complex in an adult patient presenting with an isolated SEGA. CASE REPORT: We present a case of a 25-year-old female with no medical history who presented to the emergency room for headaches. Further workup included gadolinium enhanced MRI of the brain which revealed a homogenously enhancing mass in the left lateral ventricle with eccentric calcification and resultant obstructive hydrocephalus. A left frontal craniotomy with an interhemispheric transcallosal approach was taken for complete removal of the mass. DISCUSSION: Final pathological diagnosis was SEGA with suggestive cell population, positive GFAP and positive synaptophysin. Genetic testing included TSC1 (MLPA, DNA Sequencing) and TSC2 (MLPA, DNA Sequencing), which were all negative. The panel did not identify mutations associated with Tuberous Sclerosis. CONCLUSION: Rare cases of isolated SEGA have been reported in patients who do not have typical features of tuberous sclerosis, and may represent minimal penetrance of the disease with an attenuated phenotype. Negative genetic testing, as demonstrated, can be seen in adults with isolated SEGA. With a negative genetic workup of TSC, regular follow up may still be necessary; however this may prove to be low yield for identifying any TSC features in the future.

Treatment of Penetrating Nonmissile Traumatic Brain Injury. Case Series and Review of the Literature.

INTRODUCTION: Penetrating traumatic brain injuries (TBIs), with the exception of gunshot wounds, are relatively rare occurrences and affect all ages. Clinical presentation varies depending on the mechanism of the injury. Prompt surgical treatment is often indicated and is influenced by patient clinical examination, anatomic trajectory, and the penetrating object's size, shape, and velocity. METHODS: We present 3 cases of penetrating TBI. Their similarities and differences affecting operative and medical management are compared. We relate our experience with management of penetrating intracranial foreign bodies in general and discuss the relevant literature. RESULTS: Our first case was a 12-year-old male who presented with a self-inflicted transfacial transcranial injury by a crossbow. The arrow passed through the left sphenoid and cavernous sinus and exited through the parietal calvarium. Our second case was a 37-year-old man with a transoral intracranial stab wound by a knife. In our third case, we present a 46-year-old male who accidentally fired a nail gun into his right ear. The nail traversed the posterior wall of the external auditory canal into the posterior fossa, ending in the cerebellar vermis. Each case was treated with craniotomy and foreign body removal. All resulted in good outcomes after surgical treatment. CONCLUSION: Surgery in penetrating TBI is the treatment of choice. Our cases demonstrate how certain principles applied to individual patient scenarios may optimize clinical results. Severity of the injury and operative approach are among the most important considerations to achieve the best patient outcomes.

Chiari malformation I and autism spectrum disorder: an underrecognized coexistence.

OBJECT: Patients with symptomatic Chiari malformation Type I (CM-I) frequently present with headaches, neck pain, difficulty swallowing, and balance disturbances. In children with autism spectrum disorder (ASD), diagnosing CM-I can be a challenging task. Moreover, even if symptomatic, some patients do not undergo further evaluation or management, as their presentations are attributed to autism and its myriad symptoms. Therefore, cranial MRI findings were reviewed after evaluating and treating patients with coexisting ASD and CM-I. In this paper, the authors report on 5 children with ASD and symptomatic CM-I, including their clinical presentation, imaging studies, management, and outcomes, and discuss the likely underrecognized coexistence of these conditions. METHODS: All pediatric patients with ASD and cranial MRI conducted for any reason in the period from 1999 to 2013 were considered for analysis. All cases with concomitant symptomatic CM-I were eligible for this retrospective analysis. RESULTS: One hundred twenty-five pediatric patients diagnosed with ASD had undergone MRI, and 9 of them had evidence of cerebellar tonsillar herniation. Five patients were symptomatic and underwent suboccipital craniectomy, a C-1 or a C-1 and C-2 laminectomy, and duraplasty with bovine pericardium or Type I collagen allograft. There were no intraoperative complications. All patients showed symptom improvement and/or resolution of presenting symptoms, which included headache, dysphasia, speech, and irritability. CONCLUSIONS: There is no identified cause of autism. Children with ASD can be difficult to assess specifically in a neurological examination. Thus, cranial MRI considered when completing a comprehensive diagnostic evaluation. While cranial MRI is not a routine part of ASD evaluation, this study demonstrates that CM-I and ASD may coexist and be underrecognized. The study reinforces the importance of a comprehensive medical evaluation designed to elucidate neurological findings in children with impaired communication abilities and suggests the judicious use of neuroimaging.

Utility and safety of the flexible-fiber CO2 laser in endoscopic endonasal transsphenoidal surgery.

BACKGROUND: This study sought to report on the utility and safety of the flexible-fiber CO2 laser in endoscopic endonasal transsphenoidal surgery. METHODS: A retrospective chart review identified 16 patients who underwent laser-assisted transsphenoidal surgery. All tumor pathology types were considered. Results were assessed based on hormone status, tumor size, pathology, complications, and resection rates. RESULTS: Sixteen pituitary lesions (pituitary adenomas, 12; Rathke cleft cyst, 2; pituitary cyst and craniopharyngioma, 1 each) with an average size of 22.7 mm were identified by radiographic and pathologic criteria. All patients underwent flexible-fiber CO2 laser-assisted endoscopic endonasal transsphenoidal surgery. Of the adenomas, 8 were nonsecreting and 4 were secreting (3 prolactinomas and 1 ACTH secreting). Gross total resection was achieved in 7 of 16 patients (43.75%) with hormone remission in all patients (100%) after a mean follow-up of 19.3 months. Postoperative complications occurred in 3 patients (18.75%): 2 patients developed transient diabetes insipidus (DI) and 1 developed a CSF leak requiring surgical repair. Five patients (31.25%) underwent postoperative radiation to the residual lesions. CONCLUSIONS: We found that CO2-laser-assisted endoscopic endonasal transsphenoidal surgery for sellar tumors is a minimally invasive approach using a tool that is quick and effective at cutting and coagulation. The surgery has a low rate of complication, and no laser-related complications were encountered. The laser fiber allows the surgeon to safely cut and coagulate without the line-of-sight problems encountered with conventional CO2 lasers. Further studies are recommended to further define its role in endoscopic endonasal sellar surgery.

Boxing-related head injuries.

Fatalities in boxing are most often due to traumatic brain injury that occurs in the ring. In the past 30 years, significant improvements in ringside and medical equipment, safety, and regulations have resulted in a dramatic reduction in the fatality rate. Nonetheless, the rate of boxing-related head injuries, particularly concussions, remains unknown, due in large part to its variability in clinical presentation. Furthermore, the significance of repeat concussions sustained when boxing is just now being understood. In this article, we identify the clinical manifestations, pathophysiology, and management of boxing-related head injuries, and discuss preventive strategies to reduce head injuries sustained by boxers.

Results after lumbar decompression with and without discectomy: comparison of the transspinous and conventional approaches.

OBJECTIVE: To evaluate the efficacy of the transspinous approach compared with the conventional approach in single-level lumbar laminotomies with and without discectomies. METHODS: Forty consecutive patients underwent single-level lumbar decompression with or without a discectomy. The first 20 patients underwent surgery by the conventional approach (11 with discectomy and 9 without), and the transspinous approach was used in the remaining 20 patients (11 with discectomy and 9 without). Results between the groups were assessed by comparing the following measures: length of inpatient hospital stay, postoperative pain and analgesia use, estimated blood loss, rate of postoperative disability and complications, and incision length. RESULTS: The groups did not differ significantly with respect to age, level of pathology, insurance status, or type of analgesia used. The primary outcome was physical disability, measured using the Roland-Morris Disability Questionnaire. The secondary outcome was pain intensity, measured using the Brief Pain Inventory. Patients who underwent the transspinous approach had better outcomes across all measures with significance appreciated in those who underwent transspinous decompression with discectomies. Other statistically significant differences were identified in incision length and postoperative analgesia use at the end of 1 week. No statistically significant differences were identified in the rates of complications, estimated blood loss, inpatient narcotic analgesia use, or length of inpatient hospital stay. CONCLUSION: Patients who underwent single-level lumbar decompression with or without discectomy had similar outcomes as those who underwent the conventional approach. Although of modest clinical significance, the transspinous approach may afford early mobilization and reduced postoperative pain while providing a satisfactory neurological and functional outcome.

Recovery of sensorineural hearing loss following operative management of a posterior fossa arachnoid cyst. Case report.

Arachnoid cysts are benign, intraarachnoid cysts filled with cerebrospinal fluid that are usually encountered in the middle cranial fossa. If present in the posterior fossa, they usually produce nonspecific signs and symptoms such as headaches, dizziness and vertigo. We report the rare presentation of a young girl with right-sided sensorineural hearing loss and tinnitus secondary to a right cerebellopontomedullary arachnoid cyst. The patient underwent a suboccipital retrosigmoid (retromastoid) craniectomy with fenestration of the arachnoid cyst. Subsequently, the patient experienced improvement in hearing with near-complete resolution of sensorineural hearing loss. To the authors' knowledge, postoperative near-complete resolution of hearing loss secondary to posterior fossa arachnoid cysts in a pediatric patient has not been previously reported. The authors also review the literature with respect to posterior fossa arachnoid cysts and discuss their clinical features, diagnosis, and management.

Ganglioglioma associated with cerebral cortical dysplasia: an unusual case with extensive leptomeningeal involvement.

Ganglioglioma is a tumor occurring in children and young adults and characterized by a superficial cortical location and biphasic histologic differentiation encompassing neuronal and glial elements. Ganglioglioma may arise anywhere throughout the neuraxis, including the optic nerve, brain stem, pineal gland, cerebellum, cerebrum, and spinal cord; however, the majority of glioneuronal neoplasms involve the temporal lobe. Gangliogliomas may show focal leptomeningeal involvement, but predominant leptomeningeal involvement by gangliogliomas is extremely rare; only 2 cases of ganglioglioma extensively involving the leptomeninges have been reported. In this report, we present an unusual case of a ganglioglioma predominantly present within the leptomeninges of a 15-year-old boy with a history of seizures. Furthermore, the cerebral cortex beneath the tumor showed dysplastic changes. We report a very unusual case of ganglioglioma involving predominantly the cerebral leptomeninges and associated with adjacent cerebral cortical dysplasia. Histologic characteristics and diagnostic pitfalls are discussed.

Robotics and its applications in stereotactic radiosurgery.

Stereotactic radiosurgery has undergone a remarkable evolution since its conception and the subsequent introduction of image-guided radiosurgery, primarily because of the concurrent advances in imaging and computer technology. However, recent improvements in real-time imaging, inverse planning techniques, and frameless alternatives have greatly enhanced the conformity and accuracy of the radiosurgical procedure. As a consequence, the possibility of hypofractionation is offered, and both intra- and extracranial targets can now be ablated with sustained submillimetric precision. Although all indispensable features, none is as impressive or useful as the incorporation of robotics, robotic beam delivery, or robotic-assisted planning, which has only served to improve the accuracy and homogeneity of therapy. The aim of this article was to describe the general technological basis of robots in radiosurgery and to review current clinical usage of robotic radiosurgery devices. Emphasis has been placed on robotic principles and the various popular applications currently available.