Onyiuke Grading Scale: A clinical classification system for the diagnosis and management of Bertolotti syndrome.

BACKGROUND: Lumbosacral transitional vertebrae (LSTV) is a common anatomic variant of the spine, characterized by the formation of a pseudoarticulation between the transverse process of the lumbar vertebrae and sacrum or ilium. LSTVs have been implicated as a potential source of low back pain - dubbed Bertolotti syndrome. Traditionally, LSTVs have only been subdivided into types I-IV based on the Castellvi radiographic classification system. OBJECTIVE: Solely identifying the type of LSTV radiographically provides no clinical relevance to the treatment of Bertolotti syndrome. Here, we seek to analyze such patients and identify a clinical grading scale and diagnostic-therapeutic algorithm to optimize care for patients with this congenital anomaly. METHODS: Patients presenting with back pain between 2011 and 2018 attributable to a lumbosacral transitional vertebra were identified retrospectively. Data was collected from these patients' charts regarding demographic information, clinical presentation, diagnostic imaging, treatment and outcomes. Based on evaluation of these cases and review of the literature, a diagnostic-therapeutic algorithm is proposed. RESULTS: Based on our experiences evaluating and treating these patients and review of the existing literature, we propose a clinical classification system for Bertolotti syndrome: we proposed a 4-grade scale for patients with Bertolotti syndrome based upon location, severity, and characteristics of pain experienced due to LSTVs. CONCLUSION: Based on our experience with the cases illustrated here, we recommend managing patients with LSTV based on our diagnostic-therapeutic algorithm. Moving forward, a larger prospective study with a larger patient cohort is needed to further validate the treatment paradigm.

Application of targeted genome sequencing to brain metastasis from non-small cell lung carcinoma: Case report.

Non-small cell lung cancer (NSCLC) is frequently associated with central nervous system metastases resulting in poor outcomes. As newer targeted therapies become available determining which patients can benefit from these therapies has remained challenging, and current molecular testing options rely on a panel of only a handful of known oncogenic drivers. Here, we demonstrate a targeted approach at uncovering clinically relevant variants in cancer-associated genes using genomic sequencing. Our patient underwent targeted sequencing of 212 cancer-associated genes, revealing mutations in six; two of which were in EGFR, an important target for therapy in NSCLC. A multidisciplinary approach involving surgical resection, radiation, and targeted therapy based on the genomic profile and tumor pathology ultimately lead to positive therapeutic response and stable disease. Our report provides a proof of principle for incorporating higher throughput genomic sequencing techniques directly into patient care. We also report an atypical response of an EGFR mutation positive metastatic tumor to immune checkpoint therapy, despite recent reports suggesting that these patients do not benefit from immune checkpoint inhibitors. A brief review of current literature is discussed here to explore links between EGFR mutations and PD-L1 expression, as well as response to targeted therapies.

Synchronous cerebral arteriovenous malformation and lung adenocarcinoma carcinoma brain metastases: A case study and literature review.

INTRODUCTION: While there are numerous published cases of arteriovenous malformations (AVMs) developing in the setting of malignancy, it is extremely rare to find them concurrently associated in the brain. CLINICAL CASE: This is the case of a 55-year-old male who presented to the emergency department complaining of headaches, memory and visual changes. Neuro-imaging revealed a right temporal parietal AVM and an adjoining hyperenhancing occipitotemporal lobe lesion with concern for a possible evolving stroke. The patient was treated with radiosurgery for the AVM. His symptoms progressed one month later, and repeat imaging suggested interval enlargement of the previously presumed stroke that was intricately associated with the AVM, in addition to two new small enhancing lesions of the left temporal lobe. Microsurgical resection of the temporal lobe mass revealed adenocarcinoma of the lung. CONCLUSION: This case represents a previously undocumented confluence of cranial AVM that initially masked a non-small cell lung cancer brain metastasis.

Atypical presentation of a solid-variant orbital aneurysmal bone cyst with a literature review.

INTRODUCTION: Aneurysmal bone cysts (ABCs) are rare, rapidly expansile, benign, vascular lesions capable of causing local bone destruction. The majority of cases present as multi-cystic lytic lesions (with solid-variant ABCs representing<10% of all presentations) of the long bones or vertebrae, rarely occurring in the head/neck region. CLINICAL CASE: A 44-year-old female presented with nine days of worsening pain, ptosis and proptosis in the right eye. CT and MR imaging revealed a 3.2cm extra-axial multiloculated right frontal lobe mass in the orbit with fluid-fluid levels secondary to layering of solid blood components. A right craniotomy was performed and the lesion was resected piecemeal with subsequent high speed burring to remove residual tissue. Histological evaluation revealed spindle and giant cell infiltration of the bone without vascular channels. Based on these findings, the lesion was diagnosed as a solid-variant orbital ABC without paranasal sinus involvement. The patient recovered fully with no residual symptoms. CONCLUSION: This case report details a rare presentation of ABC (solid-variant presenting outside of the vertebrae/long bones) with discussion concerning possible treatment modalities and guidance for follow-up.

Brainstem melanomas presenting as a cavernous malformation.

BACKGROUND: Melanoma lesions in the brainstem can be difficult to distinguish radiographically and clinically from cavernous malformations. However, the treatment modalities and clinical course of these two diseases differ considerably. We report two cases of melanoma presenting as brainstem hemorrhages. CASE DESCRIPTION: A 69-year-old male was found to have a hemorrhagic lesion of the right dorsal midbrain. After a repeat hemorrhage, the lesion was resected and found to be hyperchromatic. Nonetheless, the patient suffered rebleeding and died 3 months later. A 62-year-old female was similarly found to have an acute pontine hemorrhage. After resection of the lesion, she underwent whole-brain radiation therapy but ultimately died 5.5 months later. The histopathology of both lesions was consistent with melanoma. CONCLUSIONS: Melanoma in the brainstem can mimic cavernous malformations. While management of these lesions includes stereotactic radiosurgery, whole-brain radiation, and surgical resection, metastatic brainstem melanoma follows an aggressive clinical course with a poor prognosis.

Type I spinal arteriovenous fistulae exception: a case for reclassification.

OBJECTIVE: Type I spinal arteriovenous lesions represent dorsal dural arteriovenous fistulae with no spinal artery involvement. We report an exception to this and propose dividing Type I lesions into dorsal and ventral categories. METHODS: A 51-year-old patient presented with a partial Brown-Sequard syndrome. An angiogram revealed a spinal arteriovenous fistula, most prominently being fed a radicular artery arising from the right vertebral artery with only ventral venous drainage. RESULTS: This feeder was selected and embolized with onyx, however residual fistula persisted and the patient subsequently underwent microsurgical disconnection. At six-month follow-up, patient motor deficits have resolved and difficulty with proprioception is improving. CONCLUSION: Type I dural arteriovenous fistulae are associated with dorsal venous drainage. Our case demonstrates an exception to this. Recognizing this exception was crucial, because it allowed for simple microsurgical disconnection. We propose that type I dural arteriovenous fistulae be subdivided into ventral and dorsal based on their drainage pattern. This differentiation is critical because lesions with ventral drainage have traditionally been classified as type IV. These lesions have a different treatment method given involvement of spinal arteries.

Infectious pseudoaneurysm of the internal carotid artery treated with a covered stent.

Rapidly expanding infectious pseudoaneurysms of the internal carotid artery can have deleterious consequences. A patient is reported who presented with such an aneurysm. The morphology of the aneurysm was not amenable to microsurgical treatment. The aneurysm was successfully treated with covered stents. This is only the third report of a patient with an infectious pseudoaneurysm in the internal carotid artery treated with a covered stent. At the 1 year follow-up visit, the patient continues to do well.

Intraosseous intracranial meningioma.

Primary intraosseous lytic meningiomas are rare tumors, with only 16 cases described in the literature. We present a case in which CT and MR imaging with contrast agent helped diagnose preoperatively an enlarging skull mass as a primary intraosseous lytic meningioma in a 70-year-old woman. Radiographic findings revealed a lytic mass centered on the coronal suture line that separated and thinned both the outer and inner tables of the frontal bone.

Three-dimensional computed tomographic cranial base measurements for improvement of surgical approaches to the petrous carotid artery and apex regions.

OBJECTIVE: The bony and vascular anatomic features in the region of the petrous apex can vary significantly. These variations affect the operative view obtained via extended subtemporal or anterior transpetrosal approaches to cranial base lesions for individual patients. The goal of this study was to evaluate three-dimensional computed tomography as a means of obtaining detailed preoperative anatomic information regarding bony and vascular landmarks and spatial relationships in the region of the petrous carotid artery and petrous apex. METHODS: We radiographically studied 15 patients (30 sides), using 0.8- to 1-mm-thick, reconstructed, computed tomographic images. Special attention was given to the course of the petrous carotid artery. RESULTS: The petrous carotid artery was located lateral to the trigeminal impression. The size of the petrous apex medial to the horizontal petrous carotid artery was observed to be variable. The width of bone from the trigeminal impression to the wall of the internal auditory canal averaged 9.6 mm (range, 5.2-16.1 mm). A variable amount of bone overlying the internal auditory canal (4.5 mm) was also present. Multiple other relationships among key landmarks were quantified. CONCLUSION: There is significant variability in the anatomic features of the petrous apex among patients. For each patient, detailed preoperative information regarding the amount of bone to be removed during a cranial base procedure can be obtained using three-dimensional computed tomography. This information may be critical for determination of the amount of extra exposure that can be achieved via an anterior petrosectomy for each patient.

Fine-needle aspiration diagnosis of medulloblastoma metastatic to the pelvis.

A 25-yr-old male presented with a cerebellar mass, underwent a suboccipital craniotomy, and was diagnosed with medulloblastoma. Six months later he developed a large mass in the right iliac crest. Fine-needle aspiration biopsy (FNAB) confirmed the diagnosis of metastatic medulloblastoma. The diagnosis of metastatic medulloblastoma is usually suspected clinically or radiographically, and is uncommonly confirmed by cytologic evaluation. Here we report on a rare case of FNAB used to diagnose metastatic medulloblastoma.

Guillain-Barre syndrome in organ and bone marrow transplant patients.

BACKGROUND: Guillain-Barre Syndrome (GBS) is believed to be caused by autoimmune mechanisms that are predominantly T-cell mediated. We report GBS in organ transplant patients and bone marrow transplant patients, both of whom have iatrogenically suppressed T-cell function. METHODS: We reviewed the Duke University Medical Center database from 1989-1999 for all patients who met the criteria for GBS. There were a total of 212 patients. Of these patients, two had undergone organ transplantation and two had undergone autologous bone marrow transplantation. RESULTS: Our report supports the notion that the humoral immune system is involved in the pathogenesis of GBS. Contrary to previous reports, however, functional recovery can occur without return of T-cell function. CONCLUSIONS: This suggests that in organ transplant patients, GBS may be humorally mediated and, even more importantly, responds well to treatment.

Spinal axon regeneration evoked by replacing two growth cone proteins in adult neurons.

In contrast to peripheral nerves, damaged axons in the mammalian brain and spinal cord rarely regenerate. Peripheral nerve injury stimulates neuronal expression of many genes that are not generally induced by CNS lesions, but it is not known which of these genes are required for regeneration. Here we show that co-expressing two major growth cone proteins, GAP-43 and CAP-23, can elicit long axon extension by adult dorsal root ganglion (DRG) neurons in vitro. Moreover, this expression triggers a 60-fold increase in regeneration of DRG axons in adult mice after spinal cord injury in vivo. Replacing key growth cone components, therefore, could be an effective way to stimulate regeneration of CNS axons.

Clinical outcome differences for lipomyelomeningoceles, intraspinal lipomas, and lipomas of the filum terminale.

Failure to differentiate between the different types of lumbosacral lipomas may lead to inaccurate assumptions and inappropriate management of patients. The goal of this study was to determine whether there is a difference in clinical outcome between patients with lipomyelomeningocles, intraspinal lipomas, and lipomas of the filum terminale. One hundred and fourteen patients with spinal dysraphism were seen at Duke University Medical Center between 1995-1999. All patients who had undergone previous operative intervention for these lesions were excluded. Twenty-two patients with intradural lipomas were identified. Of these, 14 (64%) had lipomyelomeningoceles and 8 (36%) had intraspinal lipomas. Twenty-five patients had filum terminale lipomas. Operative management consisted of lumbosacral laminectomies with microsurgical resection of the lipoma and division of the fatty filum. Average age at presentation in symptomatic patients with lipomas of the filum terminale was 17.7 years, and 23 years in the symptomatic intraspinal lipoma group. Patients with lipomyelomeningoceles ranged in age from 1 day to 18 years, with the majority being younger than 2 years. After an average follow-up of 8 months all patients showed improvement in motor strength following operative intervention. Greater improvements in sensory, bladder, and pain scores were associated with filum terminale lipomas. The least improvements in these categories were seen in the lipomyelomeningocele group. Motor strength is the most likely deficit to improve following operative intervention. Lipomyelomeningoceles, intraspinal lipomas, and filum termniale lipomas have different clinical outcomes following operative intervention.

Laminectomy versus percutaneous electrode placement for spinal cord stimulation.

OBJECTIVE: The purpose of this study was to compare the long-term effectiveness of spinal cord stimulation using laminectomy-style electrodes versus that using percutaneously implanted electrodes. METHODS: Forty-one patients underwent an initial trial period of spinal cord stimulation with temporary electrodes at Duke Medical Center between December 1992 and January 1998. A permanent system was implanted if trial stimulation reduced the patient's pain by more than 50%. Median long-term follow-up after permanent electrode placement was 34 months (range, 6-66 mo). Severity of pain was determined postoperatively by a disinterested third party using a visual analog scale and a modified outcome scale. RESULTS: Twenty-seven (66%) of the 41 patients participating in the trial had permanent electrodes placed. Visual analog scores decreased an average of 4.6 among patients in whom electrodes were placed via laminectomy in the thoracic region (two-tailed t test, P < 0.0001). Patients who underwent percutaneous placement of thoracic electrodes had an average decrease of 3.1 in their visual analog scores (two-tailed t test, P < 0.001). Electrodes placed through laminectomy furnished significantly greater long-term pain relief than did those placed percutaneously, as measured by a four-tier outcome grading scale (P = 0.02). CONCLUSION: Spinal cord stimulation is an effective treatment for chronic pain in the lower back and lower extremities that is refractory to conservative therapy. Electrodes placed via laminectomy in the thoracic region appear to be associated with significantly better long-term effectiveness than are electrodes placed percutaneously.

Progressive unilateral damage of the entorhinal cortex enhances synaptic efficacy of the crossed entorhinal afferent to dentate granule cells.

Progressive injury to the mammalian CNS often reduces the severity of lesion-induced deficits or spares the behavior from deficits altogether. The mechanism(s) underlying this behavioral sparing is not clearly understood, but axonal sprouting is a likely candidate. To test this possibility, unilateral, two-stage (progressive) lesions of the entorhinal cortex, which are known to accelerate sprouting by the crossed temporodentate pathway and spare spatial memory function, were made in rats. We examined the changes in synaptic efficacy (as measured by the amplitude and slope of evoked population EPSPs) of the crossed temporodentate projection after either one-stage or progressive unilateral lesions of the entorhinal area. Whereas the synaptic efficacy of the one-stage group did not differ significantly from the control group at 4, 6, or 8 d after the lesion, the synaptic efficacy of the crossed temporodentate pathway in the progressive lesion group significantly increased above the control values as early as 4 d after the lesion and remained stable thereafter. Axonal sprouting thus may provide a mechanism by which to account for behavioral sparing after progressive brain damage.

Pure motor hemiplegia including the face induced by an infarct of the medullary pyramid.

Four autopsy cases of pure motor hemiparesis due to medullary pyramid infarcts have been previously reported. The deficits that were described included overt limb weakness and "slight facial weakness". According to current neurological teaching, the lesion responsible for an upper motor neuron facial palsy affects the corticobulbar tract at the level of the midpons or more rostrally.