Michael W. Ruff

Recurrent papillary craniopharyngioma with BRAF V600E mutation treated with dabrafenib: case report

The authors present the case of a man with a papillary craniopharyngioma, first diagnosed at 47 years of age, who experienced multiple recurrences. Review of the pathologic specimen from his first resection demonstrated the BRAF V600E mutation. With his most recent recurrence following previous surgery and radiotherapy, at 52 years of age, the decision was made to initiate treatment with the BRAF V600E inhibitor dabrafenib. Imaging following initiation of dabrafenib demonstrated reduction in tumor size. He remained on dabrafenib therapy for approximately 1 year and continued to demonstrate a good clinical result. At that time the decision was made to discontinue dabrafenib therapy and follow up with serial imaging. After more than 1 year of follow-up since stopping dabrafenib, the patient has continued to do well with no radiographic evidence of tumor progression and continues to be monitored with frequent interval imaging.

Ascending Spinal Cord Infarction Secondary to Recurrent Spinal Cord Cavernous Malformation Hemorrhage

We report a case of a 58-year-old Hispanic man who developed ascending paraparesis over several weeks secondary to recurrent hemorrhages and resulting in spinal cord ischemia from a low thoracic spinal cord cavernous malformation. The patients deterioration was attributed to recurrent hemorrhage of a thoracic intramedullary cavernous malformation at T11 resulting in vascular congestion and spinal cord ischemia. The patient was found to have a heterozygous mutation on exon 13 of gene KRIT1, which was consistent with autosomal dominant familial cerebral cavernous malformations. Expedited surgical intervention potentially could have prevented this patients progressive paraplegia.

Internal Carotid Artery Pseudoaneurysm and Ischemic Stroke Secondary to Retropharyngeal and Parapharyngeal Abscess: A Case Report and Review of the Literature

Internal carotid artery pseudoaneurysm is an uncommon complication of retropharyngeal and parapharyngeal abscess in children. Treatment of the pseudoaneurysm has evolved in recent years from surgical ligation to endovascular techniques. Neurologic sequelae most commonly consist of Horner’s syndrome with cerebral ischemia being uncommon. The clinical course of a 2-year-old boy with retropharyngeal abscess complicated by internal carotid artery pseudoaneurysm, is described and the literature is reviewed. A conventional angiogram confirmed the presence of a large pseudoaneurysm with no anterograde flow distal to the pseudoaneurysm and substantial collateral flow across the circle of Willis, with filling of the left anterior and middle cerebral arteries via the anterior and posterior communicating arteries. Endovascular occlusion resulted in nonfilling of the left internal carotid artery, pseudoaneurysm, and left internal jugular vein at the base of the skull. Following the procedure, the patient developed transient mild right hemiparesis associated with frontal lobe ischemia.

Activity Aprons for Inpatients Requiring Individual Nursing Assignment Care: A Prospective Randomized Controlled Pilot Study

Background: Activity aprons are commercially available products used to occupy patients with dementia at home or in long-term care facilities. We hypothesized that inpatient use of activity aprons could potentially reduce or eliminate behaviors that result in self-harm, increased nursing supervision, and restraint use in an inpatient hospital setting. Methods: A single-center prospective randomized controlled pilot study was performed from July 2015 to November 2016 comparing activity apron plus standard care versus standard care alone. Consecutively enrolled patients were randomized by stratified randomization using age (cutoff: 80 years) and preexisting diagnosis of dementia or cognitive impairment. Primary outcomes were safety and feasibility of apron use. Secondary outcomes included duration of hospitalization postrandomization and individual nursing assignment (IA), time in restraints, nonphysical restraints use, falls, apron-related complications, dismissal destination, and 30-day hospital readmission. Results: Thirty patients were enrolled, with 13 randomized to apron and 17 randomized to the control group. There was no statistically significant reduction in mean length of hospital stay (15.8 vs 21.5 day; P = .40), duration of IA compared to non-apron control group (6.4 vs 9.1, respectively; P = .39), or antipsychotic medication use (61.5% vs 70.6% in control group; P = .60). No complications secondary to apron use were seen. Conclusions: Activity aprons are a safe addition to the standard of care when managing encephalopathic patients in the inpatient setting. These aprons may have a role as part of a comprehensive complement of interventions to address delirium and encephalopathy in hospitalized patients.

A cavernous sinus lesion clinically responsive to steroids

Tolosa Hunt syndrome (THS) is characterized by painful ophthalmoplegia secondary to idiopathic granulomatous inflammation of the cavernous sinus. The characteristic finding on MRI is an enhancing T1 isointense and T2 hypo- or hyperintense cavernous sinus mass lesion, which may result in focal narrowing of the ipsilateral internal carotid artery. Although the incidence is quite rare, it is a common diagnostic consideration in cases that present with multiple cranial neuropathies. However, the differential diagnosis for a unilateral cavernous sinus lesion in adults is broad and includes neoplastic, inflammatory (such as sarcoidosis and immunoglobulin G4-related disease [IgG4-RD]), infectious etiologies (such as syphilis and leprosy), as well as vascular lesions. We describe a patient presenting with neurologic symptoms referable to a persistent unilateral cavernous sinus MRI abnormality, initially thought to be consistent with Tolosa-Hunt syndrome, that was clinically but not radiographically responsive to steroids. Following reevaluation due to the presence of new symptoms, pathology revealed that the abnormality was most consistent with chordoma, a rare skull based tumor. In patients with a presumed diagnosis of Tolosa-Hunt syndrome, close clinical and radiographic follow-up is imperative, with early consideration for biopsy in patients that fail to respond to treatment both clinically and radiographically.

Hyperkinetic transient ischemic attacks preceding deep ganglionic infarction in a patient with a treated parasellar chondrosarcoma

A 44-year-old right-handed female with a past medical history of parasellar chondrosarcoma status post-surgical debulking and proton beam therapy (70 Gy) three years prior to presentation experienced several hours of brief, repetitive episodes of transient hemiballism and dystonia; this was followed by abrupt onset of fixed hemiparesis and dysarthria weeks later, ipsilateral to her prior hyperkinetic movements. She was found to have total occlusion of the right middle cerebral artery with focal stenosis of the proximal right A-1 segment of the anterior cerebral artery adjacent to the remnants of the chondrosarcoma. These focal areas of narrowing were attributed to accelerated atherosclerotic disease, an adverse effect of the radiotherapy used to treat her chondrosarcoma. As treatments improve and mean survival increases for intracranial malignancy, radiation-induced atherosclerotic disease with protean manifestations such as those presented in this case may be encountered more frequently.

Unique Gadolinium Enhancement Pattern in Spinal Dural Arteriovenous Fistulas

Importance Spinal dural arteriovenous fistula (sDAVF) is often misdiagnosed as an inflammatory or a neoplastic myelopathy, often because of intraparenchymal gadolinium enhancement on magnetic resonance imaging (MRI); proper early diagnosis is important because deficits are reversible and a delay in treatment is associated with permanent morbidity. Tortuous flow voids on MRI are not universally present; thus, recognition of a unique gadolinium enhancement pattern may also aid in the early recognition and treatment of sDAVF. Objective To describe a unique pattern of spinal cord gadolinium enhancement on MRI in sDAVF. Design, Setting, and Participants This retrospective evaluation included pretreatment MRIs from 80 patients referred to the Mayo Clinic, Rochester, Minnesota, from January 1, 1997, through December 31, 2017, with a confirmed diagnosis of sDAVF and a control group of 144 patients with alternative confirmed myelopathy diagnoses. All participants underwent a neurologic evaluation at the Mayo Clinic. Main Outcomes and Measures Evidence of at least 1 focal geographic nonenhancing area within a long segment of intense holocord gadolinium enhancement (termed the missing-piece sign) on MRI. Results Of 51 patients with an sDAVF and a pretreatment MRI with gadolinium enhancement, 44 (86%) had intraparenchymal contrast enhancement, and 19 of these patients (43%) displayed the characteristic missing-piece sign. Of these 19 patients, symptom onset occurred at a median age of 67 years (range, 27-80 years); 15 patients were men. Progressive myelopathy features affecting the lower extremities occurred during a median of 33 months (range, 1-84 months). Eleven patients (58%) received an alternative diagnosis before confirmation of sDAVF. Tortuous flow voids were present on T2-weighted MRI in 13 of 19 patients. More than 1 digital subtraction angiogram was required for 5 patients to confirm the diagnosis. The missing-piece sign was not seen in any patients from the control group. Conclusions and Relevance This unique gadolinium enhancement pattern in sDAVF was not found in a large control group of patients with other myelopathy. Identifying the missing-piece sign on MRI could potentially result in earlier time to angiography with improved outcomes for patients with an sDAVF.

Anaplastic Glioma: Treatment Approaches in the Era of Molecular Diagnostics

Opinion statementThe treatment paradigm for anaplastic glioma has shifted, owing to new diagnostic criteria and new phase III clinical trial evidence. In 2016, the WHO classification of brain tumors including diffuse gliomas was redefined to include molecular criteria, often supplanting the morphological appearance of the tumor cells. This was necessary as prognosis is more closely associated with molecular diagnosis than with morphology and grade. Recently, the benefit of adjuvant chemotherapy in addition to radiotherapy has been demonstrated in both anaplastic oligodendroglioma and anaplastic astrocytoma, as well as lower grade gliomas with the most marked benefit evident in IDH-mutated (astrocytoma) and 1p/19q co-deleted (oligodendroglial) tumors. The defining principle of recent breakthroughs has been the benefit of combinatorial therapy (chemo-radiation) as opposed to treatment in series or treatment of either modality after a period of observation upon evidence of progression.

A case of epidural glioblastoma metastasis presenting with a cervical myelopathy, torticollis, and L’hermitte’s phenomenon

Extraneural glioblastoma metastases are exceedingly rare, though previously described in the literature. Activating mutations in the BRAF kinase gene (V600E) are present in a minority of glioblastoma patients. Here, we describe a case of systemic metastases of a clonal subpopulation of BRAF V600E mutated glioblastoma in a patient previously treated with surgery, radiation, temozolomide and bevacizumab. The patient presented with a subacute cervical myelopathy during adjuvant treatment. He underwent emergent surgical decompression of an epidural spine metastasis. Analysis of the metastatic tumor demonstrated clonal expansion of a BRAF V600E subpopulation. Though rare, systemic metastasis of glioblastoma should be considered in patients presenting with subacute complaints in line with a mass lesion.

Teaching Video NeuroImages: Slow upward ocular bobbing

Slow upward ocular bobbing consists of slow upward conjugate eye movement, followed by a fast downward return to midposition, previously described with pontine pathology.1,2 Our patient had an undiagnosed CSF leak in the setting of a postoperative pseudomeningocele with decline in her level of consciousness, absent oculocephalic reflexes, and intact corneal and pupillary light reflexes. She exhibited slow upward ocular bobbing (video on the Neurology® Web site at Neurology.org), which increased in frequency with noxious stimuli. Imaging revealed brain sag with ventral pontine flattening. Despite repair of the pseudomeningocele, the patient remained comatose requiring mechanical ventilation and passed shortly after care was withdrawn.