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Open access

Detailed molecular and pathological analyses of primary intracranial embryonal rhabdomyosarcoma with a BRAF mutation: illustrative case

Masamichi Abe, Takahiro Ono, Felix Hinz, Masataka Takahashi, Yuko Hiroshima, Koya Kodama, Michihiro Yano, Hiroshi Nanjo, Tsutomu Takahashi, Andreas von Deimling, and Hiroaki Shimizu

BACKGROUND

The etiological significance of the RAS and PI3K pathways has been reported in systemic embryonal rhabdomyosarcoma (ERMS) but not in primary intracranial ERMS (PIERMS). Herein, the authors present a unique case of PIERMS with a BRAF mutation.

OBSERVATIONS

A 12-year-old girl with progressive headache and nausea was diagnosed with a tumor in the right parietal lobe. Semi-emergency surgery revealed an intra-axial lesion that was histopathologically identical to an ERMS. Next-generation sequencing indicated a BRAF mutation as a pathogenic variation, but the RAS and PI3K pathways showed no alteration. Although there is no established reference class for PIERMS, the DNA methylation prediction was closest to that of ERMS, indicating the possibility of PIERMS. The final diagnosis was PIERMS. The patient underwent local radiotherapy (50.4 Gy) and multiagent chemotherapy, with no recurrence for 12 months after surgery.

LESSONS

This may be the first case demonstrating the molecular features of PIERMS, especially the intra-axial type. The results showed a mutation in BRAF but not in the RAS and PI3K pathways, which is different from the existing ERMS features. This molecular difference may cause differences in DNA methylation profiles. Accumulation of the molecular features of PIERMS is necessary before any conclusions can be drawn.

Open access

Large vertebral artery pseudoaneurysm masquerading as a schwannoma: illustrative case

Joyce Koueik, Sarah Larson, Azam Ahmed, and Amgad S. Hanna

BACKGROUND

Extracranial vertebral aneurysms or pseudoaneurysms are rare and result primarily from trauma. Large pseudoaneurysms can masquerade as mass lesions, making it challenging to identify the correct diagnosis.

OBSERVATIONS

This is a case report in which a large vertebral pseudoaneurysm posed as a schwannoma and biopsy was attempted. It was later identified as a vascular lesion and treated appropriately with no complications.

LESSONS

Vascular etiologies should always be included in the differential diagnosis of spine and nerve pathologies especially lesions that are in the vicinity of major vascular channels such as the transverse foramina of the cervical spine.

Open access

Low-field magnetic resonance imaging in a boy with intracranial bolt after severe traumatic brain injury: illustrative case

Awais Abbas, Kiran Hilal, Aniqa Abdul Rasool, Ume-Farwah Zahidi, Muhammad Shahzad Shamim, and Qalab Abbas

BACKGROUND

Conventional magnetic resonance imaging (cMRI) is sensitive to motion and ferromagnetic material, leading to suboptimal images and image artifacts. In many patients with neurological injuries, an intracranial bolt (ICB) is placed for monitoring intracranial pressure (ICP). Repeated imaging (computed tomography [CT] or cMRI) is frequently required to guide management. A low-field (0.064-T) portable magnetic resonance imaging (pMRI) machine may provide images in situations that were previously considered contraindications for cMRI.

OBSERVATIONS

A 10-year-old boy with severe traumatic brain injury was admitted to the pediatric intensive care unit, and an ICB was placed. Initial head CT showed a left-sided intraparenchymal hemorrhage with intraventricular dissection and cerebral edema with mass effect. Repeated imaging was required to assess the brain structure because of continually fluctuating ICP. Transferring the patient to the radiology suite was risky because of his critical condition and the presence of an ICB; hence, pMRI was performed at the bedside. Images obtained were of excellent quality without any ICB artifact, guiding the decision to continue to manage the patient conservatively. The child later improved and was discharged from the hospital.

LESSONS

pMRI can be used to obtain excellent images at the bedside in patients with an ICB, providing useful information for better management of patients with neurological injuries.

Open access

Posterior interosseous nerve paralysis secondary to an extraneural ganglion cyst from a radial neck pseudarthrosis: illustrative case

Karina A. Lenartowicz, Robert J. Spinner, Kimberly K. Amrami, and Shawn W. O’Driscoll

BACKGROUND

Many benign and malignant tissue or bony lesions have been reported as causes of extrinsic or intrinsic posterior interosseous nerve (PIN) neuropathy at the proximal forearm/elbow region. The authors describe an unusual cause of external compression of the PIN due to a ganglion cyst arising from a radial neck pseudarthrosis (a false joint).

OBSERVATIONS

Decompression of the PIN with the release of the arcade of Frohse was performed with resection of the radial head and the ganglion cyst. By 6 months postoperatively, the patient had a complete neurological recovery.

LESSONS

This case illustrates a previously unreported cause of extraneural compression of the PIN from a pseudarthrosis. The mechanism for compression in this case from the radial head pseudarthrosis is likely attributable to the sandwich effect, in which the PIN is sandwiched between the arcade of Frohse at the supinator from above and the cyst below.

Open access

Focal drug-resistant temporal lobe epilepsy associated with an ipsilateral anterior choroidal artery aneurysm: illustrative case

H. Westley Phillips, Shivani D. Rangwala, Joanna Papadakis, David J. Segar, Melissa Tsuboyama, Anna L. R. Pinto, Joseph P. Harmon, Sulpicio G. Soriano, Carlos J. Munoz, Joseph R. Madsen, Alfred P. See, and Scellig S. Stone

BACKGROUND

The occurrence of both an intracranial aneurysm and epilepsy, especially drug-resistant epilepsy (DRE), is rare. Although the overall incidence of aneurysms associated with DRE is unclear, it is thought to be particularly infrequent in the pediatric population. Surgical ligation of the offending aneurysm has been reported in conjunction with resolving seizure activity, although few cases have cited a combined approach of aneurysm ligation and resection of an epileptogenic focus.

OBSERVATIONS

We present the case of a 14-year-old female patient with drug-resistant temporal lobe epilepsy and an ipsilateral supraclinoid internal carotid artery aneurysm. Seizure semiology, electroencephalography monitoring, and magnetic resonance imaging all indicated a left temporal epileptogenic focus, in addition to an incidental aneurysm. The authors recommended a combined surgery involving resection of the temporal lesion and surgical clip ligation of the aneurysm. Near-total resection and successful ligation were achieved, and the patient has remained seizure free since surgery at 1 year postoperatively.

LESSONS

In patients with focal DRE and an adjacent intracranial aneurysm, a combined surgical approach involving both resection and surgical ligation can be used. Several surgical timing and neuroanesthetic considerations should be made to ensure the overall safety and efficacy of this procedure.

Open access

Infraclavicular de novo placement of a responsive neurostimulator for a patient with eloquent glioma-associated epilepsy: illustrative case

Ahmad R. Masri, Bailey R. Yekzaman, Bradley J. Estes, Christopher S. Park, Patrick Landazuri, and Michael Kinsman

BACKGROUND

The authors present a 50-year-old female with high-grade glioma involving the motor cortex as the cause of her drug-resistant epilepsy (DRE). Responsive neurostimulation (RNS) was chosen for epilepsy treatment. Due to concerns regarding the generator impeding the regular imaging surveillance required for treatment and monitoring of her glioma, surgeons placed the internal pulse generator (IPG) within an infraclavicular chest pocket.

OBSERVATIONS

Implantation of the RNS device and IPG within the infraclavicular pocket was uneventful. However, both subdural and depth electrodes were used and connected to the IPG, and subdural electrodes are considerably shorter than depth electrodes (37 vs 44 cm). The shorter strip leads presumably generated significant tension, leading to fracture of the leads. Therefore, surgery was repeated using only depth electrodes for more length and less tension. The device has good-quality electrocorticography signals that continue to be used for device programming. The seizure burden was reduced, and quality of life improved for the patient.

LESSONS

The RNS system with infraclavicular IPG placement reduced the seizure burden and improved the quality of life of a patient with glioma-associated epilepsy. Surgeons may consider the infraclavicular location as an alternative site for implantation for RNS candidates who require recurrent intracranial magnetic resonance imaging.

Open access

Metabolism changes during direct revascularization in moyamoya disease: illustrative case

Fuat Arikan, Ivette Chocron, Helena Calvo-Rubio, Carlos Santos, and Dario Gándara

BACKGROUND

Cerebral revascularization is recommended for patients with moyamoya disease (MMD) with reduced cerebral perfusion reserve and recurrent or progressive ischemic events. The standard surgical treatment for these patients is a low-flow bypass with or without indirect revascularization. The use of intraoperative monitoring of the metabolic profile using analytes such as glucose, lactate, pyruvate, and glycerol has not yet been described during cerebral artery bypass surgery for MMD-induced chronic cerebral ischemia. The authors aimed to describe an illustrative case using intraoperative microdialysis and brain tissue oxygen partial pressure (PbtO2) probes in a patient with MMD during direct revascularization.

OBSERVATIONS

The patient’s severe tissue hypoxia situation was confirmed by a PbtO2:partial pressure of oxygen (PaO2) ratio below 0.1 and anaerobic metabolism by a lactate:pyruvate ratio greater than 40. Following bypass, a rapid and sustained increase in PbtO2 up to normal values (PbtO2:PaO2 ratio between 0.1 and 0.35) and the normalization of cerebral energetic metabolism with a lactate/pyruvate ratio less than 20 was observed.

LESSONS

The results show a quick improvement of regional cerebral hemodynamics due to the direct anastomosis procedure, reducing the incidence of subsequent ischemic stroke in pediatric and adult patients immediately.

Open access

Rescue stenting after artery occlusion as a complication of an intrasaccular device–assisted coiling embolization: illustrative case

Félix Gallo-Pineda, Miriam Fernández-Gómez, and Carlos Hidalgo-Barranco

BACKGROUND

Endovascular embolization of wide-necked aneurysms can be challenging. The development of intrasaccular devices like the Contour has enabled us to approach these aneurysms effectively by reducing recanalization rates and eliminating the need for dual antiplatelet therapy, which is particularly beneficial in the case of ruptured aneurysms. Although complications from using these devices are rare, it is crucial to address them properly. In this case, the authors highlight how to manage artery thrombosis caused by device protrusion during aneurysm embolization.

OBSERVATIONS

This report describes a complication in a male patient with a ruptured anterior communicating artery wide-necked aneurysm. Following Contour-assisted coiling of the aneurysm, a realignment of the detachable apex of the device occluded the A2 segment of the right anterior cerebral artery. After the failure of intra-arterial and intravenous tirofiban infusion as well as mechanical thrombectomy, a self-expanding open-cell stent was deployed in the involved vessel, achieving successful reperfusion.

LESSONS

The Contour device has a detachable zone that can cause occlusion of the parent vessel after deployment. The use of a stent as a rescue maneuver may be useful if reperfusion of the vessel cannot be achieved through other methods such as aspiration or full-dose antiplatelet therapy.

Open access

Rare clival localization of an eosinophilic granuloma: illustrative case

Martin E. Weidemeier, Steffen Fleck, Werner Hosemann, Silke Vogelgesang, Karoline Ehlert, Holger N. Lode, and Henry W. S. Schroeder

BACKGROUND

Eosinophilic granuloma (EG) belongs to the family of Langerhans cell histiocytosis (LCH) and is considered to be a benign disease typically found in children younger than 15 years of age. Here, the authors describe an EG of unusual localization and clinical presentation.

OBSERVATIONS

The authors report a 9-year-old girl with an EG presenting as an osteolytic lesion of the clivus. After transsphenoidal resection and histological confirmation, adjuvant chemotherapy was initiated. Presenting signs and symptoms were weight loss, episodic grimacing, and moderate ballism-like movements. After a follow-up-period of 32 months, the patient presented with a total resolution of initial symptoms and no further tumor growth.

LESSONS

Although these lesions are rare, one should consider EG as a differential diagnosis when confronted with osteolytic lesions of the clivus.

Open access

Enlarging traumatic superficial temporal artery pseudoaneurysm from a lacrosse ball injury: illustrative case

Kristina F. Terrani, Anthony M. Avellino, and M. Michael Bercu

BACKGROUND

The development of a mobile, growing, pulsatile mass after blunt head trauma to the forehead area, resulting in a superficial temporal artery pseudoaneurysm, is a very rare outcome. Most pseudoaneurysms are diagnosed with ultrasound, computed tomography (CT), and/or magnetic resonance imaging and treated via resection or, occasionally, embolization.

OBSERVATIONS

The authors describe a case of a young male lacrosse player who presented with a bulging, partially pulsatile mass in the right forehead region 2 months after trauma from a high-velocity ball striking his head while helmeted. The authors reviewed 12 patients in the literature and describe each patient’s epidemiological features, nature of the trauma, and onset of the lesion after the trauma, as well as the diagnostic methods and treatments for each case.

LESSONS

Overall, CT and ultrasound appear to be the easiest and most used methods of diagnosis, and resection under general anesthesia is the most common treatment method.