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Open access

Bifocal germ cell tumor of pineal germinoma and neurohypophyseal embryonal carcinoma: illustrative case

Yu Naruse, Shinya Jinguji, Ryo Hiruta, Ayako Toda, Kenichiro Nagai, Shingo Kudo, Hideki Sano, Rei Sekine, Osamu Suzuki, Mudathir Bakhit, and Masazumi Fujii

BACKGROUND

Bifocal germ cell tumors, with primarily identical tissue composition, occur concurrently in the neurohypophyseal and pineal regions.

OBSERVATIONS

A 16-year-old male patient exhibited increased intracranial pressure symptoms, with concurrent tumors in the pineal and neurohypophyseal regions, causing obstructive hydrocephalus. His serum human chorionic gonadotropin level was elevated, measuring 506.6 mIU/mL. Upon gross endoscopic examination, the pineal tumor appeared white, whereas the neurohypophyseal tumor appeared red and hemorrhagic. Because of the limited sample size of the latter, a frozen section biopsy was feasible only for the pineal lesion, which indicated the presence of a germinoma. Subsequently, carboplatin and etoposide were administered, resulting in the reduction of the pineal tumor, but no effect was observed in the neurohypophyseal tumor. Histopathological analysis confirmed the pineal lesion as a germinoma, whereas the neurohypophyseal lesion was an embryonal carcinoma. Thus, the treatment was altered to ifosfamide, carboplatin, and etoposide (ICE), leading to a response in both tumors. The patient underwent three additional cycles of ICE therapy and high-dose chemotherapy, followed by whole craniospinal irradiation, achieving complete remission.

LESSONS

Although most bifocal germ cell tumors share the same histological tissue, occasional differences may arise, necessitating separate biopsies for accurate assessment.

Open access

Rare variant of large pediatric glioneuronal tumor with novel MYO5A::NTRK3 fusion: illustrative case

David Chenoweth, Hashim Syed, Nahom Teferi, Meron Challa, Jane E Persons, Kathryn L Eschbacher, Maggie Seblani, and Brian J Dlouhy

BACKGROUND

Glioneuronal tumors (GNTs) comprise a rare class of central nervous system (CNS) neoplasms with varying degrees of neuronal and glial differentiation that predominately affect children and young adults. Within the current 2021 World Health Organization (WHO) classification of CNS tumors, GNTs encompass 14 distinct tumor types. Recently, the use of whole-genome DNA methylation profiling has allowed more precise classification of this tumor group.

OBSERVATIONS

A 3-year-old male presented with a 3-month history of increasing head circumference, regression of developmental milestones, and speech delay. Magnetic resonance imaging of the brain was notable for a large left hemispheric multiseptated mass with significant mass effect and midline shift that was treated with near-total resection. Histological and molecular assessment demonstrated a glioneuronal tumor harboring an MYO5A::NTRK3 fusion. By DNA methylation profiling, this tumor matched to a provisional methylation class known as “glioneuronal tumor kinase-fused” (GNT kinase-fused). The patient was later started on targeted therapy with larotrectinib.

LESSONS

This is the first report of an MYO5A::NTRK3 fusion in a pediatric GNT. GNT kinase-fused is a provisional methylation class not currently included in the WHO classification of CNS tumors. This case highlights the impact of thorough molecular characterization of CNS tumors, especially with the increasing availability of novel gene targeting therapies.

Open access

Significance of upper cervical epidural venous engorgement on head computed tomography in the initial diagnosis of spontaneous intracranial hypotension: patient series

Toshihide Takahashi, Kiyoyuki Yanaka, Hitoshi Aiyama, Minami Saura, Michihide Kajita, Nobuyuki Takahashi, Kuniyuki Onuma, and Eiichi Ishikawa

BACKGROUND

Spontaneous intracranial hypotension (SIH) is a rare condition characterized by positional headache, for which contrast-enhanced magnetic resonance imaging (MRI) is the preferred diagnostic method. Although MRI reveals characteristic findings, head computed tomography (CT) is usually the first diagnostic step, but identifying features of SIH on CT is often difficult. This study was specifically designed to evaluate the utility of head CT in detecting upper cervical epidural venous engorgement as a sign of SIH.

OBSERVATIONS

Of 24 patients with SIH diagnosed between March 2011 and May 2023, 10 did not undergo upper cervical CT. In the remaining 14 patients, engorgement of the upper cervical epidural venous plexus was observed. CT detection rates were consistent with MRI for spinal fluid accumulation or dural thickening. After treatment, in 92.9% of patients, the thickness of the epidural venous plexus decreased statistically significantly from 4.8 ± 1.3 mm to 3.6 ± 1.2 mm.

LESSONS

This study suggests that upper cervical spine CT focused on epidural venous engorgement may be helpful in the initial diagnosis of SIH and may complement conventional MRI evaluation. Extending CT imaging to the upper cervical spine will improve the diagnostic accuracy of patients with positional headaches suspected to be SIH.

Open access

Bilateral and asymmetrical localization of language function identified by the superselective infusion of propofol in an epilepsy patient with a mild malformation of cortical development: illustrative case

Mayuko Otomo, Shin-ichiro Osawa, Kyoko Suzuki, Kazuo Kakinuma, Kazushi Ukishiro, Hiroyoshi Suzuki, Kuniyasu Niizuma, Norio Narita, Nobukazu Nakasato, and Teiji Tominaga

BACKGROUND

Atypical localization of language function can result in unexpected postsurgical deficits after cortical resection, but it is difficult to predict the risk in the presurgical evaluation. The authors experienced a rare case of the bilateral and independent existence of different components of language function identified by segmented evaluation of anatomical anterior and posterior language areas using the superselective infusion of propofol.

OBSERVATIONS

A 32-year-old right-handed female presented with drug-resistant epilepsy. Comprehensive epilepsy evaluation suggested that the epileptic foci involved the whole left frontal lobe but provided less evidence of structural abnormality. To estimate the extent of functional deterioration likely to be caused by an extended left frontal lobectomy, the authors evaluated segmented cortical function in the ipsi- and contralateral hemispheres by the superselective infusion of propofol into the branches of the intracranial artery. The results revealed bilateral and asymmetrical localization of language function because the patient presented with different components of aphasia in each hemisphere. Based on the authors’ assessment of her functional tolerance, an extended left frontal lobectomy was performed and resulted in neurological deficits within the anticipated range.

LESSONS

An accurate understanding of the correlations between vascular and functional anatomy and the highly specific evaluation of language function provides more advanced presurgical assessment, allowing more tailored planning of cortical resection.

Open access

Magnetic resonance imaging–derived relative cerebral blood volume characteristics in a case of pathologically confirmed neurocysticercosis: illustrative case

Nada E Botros, David Polinger-Hyman, Ryan T Beck, Christopher Kleefisch, E. Kelly S Mrachek, Jennifer Connelly, Kathleen M Schmainda, and Max O Krucoff

BACKGROUND

Neurocysticercosis (NCC) is a parasitic infection of the brain caused by ingesting water or food contaminated with tapeworm eggs. When it presents as a solitary mass, differentiation from a primary brain tumor on imaging can be difficult. Magnetic resonance imaging (MRI)-derived relative cerebral blood volume (rCBV) is a newer imaging technique used to identify areas of neovascularization in tumors, which may advance the differential diagnosis.

OBSERVATIONS

A 25-year-old male presented after a seizure. Computed tomography (CT) and MRI demonstrated a partially enhancing lesion with microcalcifications and vasogenic edema. Follow-up rCBV assessment demonstrated mild hyperperfusion and/or small vessels at the lesional margins consistent with either an intermediate grade glioma or infection. Given the radiological equipoise, surgical accessibility, and differential diagnosis including primary neoplasm, metastatic disease, NCC, and abscess, resection was pursued. The calcified mass was excised en bloc and was confirmed as larval-stage NCC.

LESSONS

CT or MRI may not always provide sufficient information to distinguish NCC from brain tumors. Although reports have suggested that rCBV may aid in identifying NCC, here the authors describe a case of pathologically confirmed NCC in which preoperative, qualitative, standardized rCBV findings raised concern for a primary neoplasm. This case documents the first standardized rCBV values reported in a pathologically confirmed case of NCC in the United States.

Open access

Preoperative examination and intraoperative cerebrospinal fluid leakage test for minimally invasive surgery of spinal extradural arachnoid cysts: illustrative case

Yoshihiro Sunada, Kenji Yagi, Yoshifumi Tao, Hirotake Nishimura, and Tomohito Hishikawa

BACKGROUND

Spinal extradural arachnoid cysts (SEACs) are rare and can cause spinal dysfunction. Total cyst removal and duraplasty via multiple laminectomies are commonly performed. However, to avoid postoperative spinal deformity and axial pain, a minimally invasive surgery via selective laminectomy may be optimal. Therefore, preoperative detection of the dural fistula site is required.

OBSERVATIONS

A 25-year-old male presented with a 2-month history of progressive gait disturbance and back pain. Conventional magnetic resonance imaging (MRI) revealed SEACs at the T9 to L2 level but did not reveal the dural fistula. Further examinations were performed using sagittal time-spatial labeling inversion pulse MRI and cone-beam computed tomography myelography with a spinal intrathecal catheter, which indicated a dural fistula on the left side at the T12 level. On the basis of these results, dural repair was performed via selective laminectomy. Furthermore, an intraoperative cerebrospinal fluid leakage test by intrathecally injecting saline via a spinal catheter confirmed complete closure of the dural fistula, with no other fistulas.

LESSONS

These comprehensive pre and intraoperative examinations may be useful for minimally invasive and selective surgeries in patients with SEACs.

Open access

Spinal metastases of pineal region glioblastoma with primitive neuroectodermal features highlighting the importance of molecular diagnoses: illustrative case

Aaryan Shah, Neelan J Marianayagam, Aroosa Zamarud, David J Park, Amit R Persad, Scott G Soltys, Steven D Chang, and Anand Veeravagu

BACKGROUND

Glioblastoma (GBM) is the most common primary brain tumor with poor patient prognosis. Spinal leptomeningeal metastasis has been rarely reported, with long intervals between the initial discovery of the primary tumor in the brain and eventual spine metastasis.

OBSERVATIONS

Here, the authors present the case of a 51-year-old male presenting with 7 days of severe headache, nausea, and vomiting. Magnetic resonance imaging of the brain and spine demonstrated a contrast-enhancing mass in the pineal region, along with spinal metastases to T8, T12, and L5. Initial frozen-section diagnosis led to the treatment strategy for medulloblastoma, but further molecular analysis revealed characteristics of isocitrate dehydrogenase–wild type, grade 4 GBM.

LESSONS

Glioblastoma has the potential to show metastatic spread at the time of diagnosis. Spinal imaging should be considered in patients with clinical suspicion of leptomeningeal spread. Furthermore, molecular analysis should be confirmed following pathological diagnosis to fine-tune treatment strategies.

Open access

Combined endoscopic and microsurgical approach for the drainage of a multisegmental thoracolumbar epidural abscess: illustrative case

Vincent Hagel, Felix Dymel, Stephan Werle, Vera Barrera, and Mazda Farshad

BACKGROUND

Spinal epidural abscess is a rare but serious infectious disease that can rapidly develop into a life-threatening condition. Therefore, the appropriate treatment is indispensable. Although conservative treatment is justifiable in certain cases, surgical treatment needs to be considered as an alternative early on because of complications such as (progressive) neurological deficits or sepsis. However, traditional surgical techniques usually include destructive approaches up to (multilevel) laminectomies. Such excessive approaches do have biomechanical effects potentially affecting the long-term outcomes. Therefore, minimally invasive approaches have been described as alternative strategies, including endoscopic approaches.

OBSERVATIONS

The authors describe a surgical technique involving a combination of two minimally invasive approaches (endoscopic and microsurgical) to drain a multisegmental (thoracolumbar) abscess using the physical phenomenon of continuous pressure difference to minimize collateral tissue damage.

LESSONS

The combination of minimally invasive approaches, including the endoscopic technique, may be an alternative in draining selected epidural abscesses while achieving a similar amount of abscess removal and causing less collateral approach damage in comparison with more traditional techniques.

Open access

Middle meningeal artery pseudoaneurysm and pterygoid plexus fistula following percutaneous radiofrequency rhizotomy: illustrative case

Rahim Ismail, Derrek Schartz, Timothy Hoang, and Alexander Kessler

BACKGROUND

Percutaneous treatment for trigeminal neuralgia is a safe and effective therapeutic methodology and can be accomplished in the form of balloon compression, glycerol rhizotomy, and radiofrequency thermocoagulation. These procedures are generally well tolerated and demonstrate minimal associated morbidity. Moreover, vascular complications of these procedures are exceedingly rare.

OBSERVATIONS

We present the case of a 64-year-old female with prior microvascular decompression and balloon rhizotomy who presented after symptom recurrence and underwent a second balloon rhizotomy at our institution. Soon thereafter, she presented with pulsatile tinnitus and a right preauricular bruit on physical examination. Subsequent imaging revealed a middle meningeal artery (MMA) to pterygoid plexus fistula and an MMA pseudoaneurysm. Coil and Onxy embolization were used to manage the pseudoaneurysm and fistula.

LESSONS

This case illustrates the potential for MMA pseudoaneurysm formation as a complication of percutaneous trigeminal balloon rhizotomy, which has not been seen in the literature. Concurrent MMA-pterygoid plexus fistula is also a rarity demonstrated in this case.

Open access

Awake resection of recurrent astroblastoma with intraoperative 5-ALA–induced fluorescence: illustrative case

Anthony Price, Sean O’Leary, Kseniia Malkova, Preston D’Souza, Christian Ogasawara, Michelle M Felicella, and Patrick J Karas

BACKGROUND

Astroblastoma is a rare neoplasm characterized as a circumscribed glial neoplasm most often arising in the frontoparietal cerebral hemispheres in older children.

OBSERVATIONS

We report an intriguing case of an astroblastoma recurrence 21 years after gross-total resection and radiation. A 32-year-old right-handed female presented to the emergency department for a generalized tonic-clonic seizure. She had a history of bipolar disorder, intractable migraines, and prior seizures linked to an astroblastoma previously resected three times. Magnetic resonance imaging on the current visit showed growth of the recurrent lesion to a 3.8-cm maximal diameter. Left-sided awake craniotomy was performed to remove the tumor while using speech mapping and 5-aminolevulinic acid (5-ALA). Targeted next-generation sequencing of the tumor revealed in-frame MN1::BEND2 fusion transcripts.

LESSONS

We found that 5-ALA can be used in astroblastoma patients to assist in gross-total resection, which is important for long-term survival. Our astroblastoma case demonstrated classic astroblastoma morphology, with typical perivascular astroblastic rosettes, and was brightly fluorescent after 5-ALA administration.