The Clinicopathological Features of the Solitary Subependymal Giant Cell Astrocytoma: A Systematic Review.

Subependymal giant cell astrocytoma (SEGA), a circumscribed grade I glioma, is typically associated with tuberous sclerosis complex (TSC). However, "solitary SEGA" has been described. We performed a systematic review of available case reports and case series of solitary SEGA. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement was used with the following MeSH terms: "Subependymal giant cell astrocytoma," "Sporadic," "Absence," "Non-associated," "Solitary," and "Tuberous Sclerosis." Data sources included PubMed, Google Scholar, Web of Science, and Cochrane from 1979 to June 29, 2023. Of the 546 studies, 20 met the inclusion criteria. Fifty-nine cases were analyzed. The mean age was 19 years (range 4-75), with 29 women (49.1%). Tumor ranged in size from 0.8 to 5.8 cm. Headache was the most frequent initial symptom (75.6%). The lateral ventricles near the foramen of Monro were the most common location (66.10%). Tumors expressed neuroglial (n = 19) or only glial (n = 20) markers. In nine of 59 cases, genetic studies ruled out germinal TSC1/2 mutations; in 13 cases (22.03%), somatic mutations in those genes were identified. "Solitary SEGAs" included tumors with neuroglial profile and classic morphological pattern, and tumors with only glial markers. It is necessary to confirm in SEGA-like tumors, the dual nature with at least glial fibrillary acidic protein (GFAP), neurofilaments, and synaptophysin antibodies. Screening for TSC1/2 mutations, and probably of the NF type 1 gene, is recommended for both germline and somatic mutations. Long-term clinical follow-up is necessary to analyze biological behavior and compare it with genetic and molecular profiles.

Characterization of spinal hemangioblastomas in patients with and without von Hippel-Lindau, and YAP expression.

INTRODUCTION: Hemangioblastoma (HB) is a benign tumor of the central nervous system, associated with von Hippel-Lindau disease (VHL), or sporadic. The aim of this study was to compare and examine the clinical-pathological profile of patients with spinal hemangioblastoma and YAP expression. METHODS: A retrospective, descriptive, comparative study. All patients who underwent surgery for spinal HB between 2016 and 2023 were included. Clinical and radiological data were collected and analyzed. An immunohistochemistry panel including NeuN, neurofilaments (NF), and YAP-1, was performed. RESULTS: Nine patients were studied, six women and three men. Four patients had previously diagnosed VHL. The tumor location included: four cervical (44.44%), two thoracic (22.22%), two pontine with cervical extension (22.22%) and one patient with two lesions, one cervical and one thoracic (11.11%). Non-significant clinical differences were identified between VHL and sporadic patients. Imaging evidenced seven extramedullary and three intramedullary tumors. Histologically, intra-tumoral and perivascular axonal tracts were observed in all cases. One third of the tumors (two with VHL and one sporadic) presented extramedullary hematopoiesis. Seven cases (77.8%) expressed nuclear YAP (three with VHL and four sporadic HBs). The surgical outcome was good and only one patient with VHL undergoing subtotal resection had recurrence. CONCLUSIONS: Spinal HBs can be associated with VHL or be sporadic. To the best of our knowledge, this is the first study to describe YAP expression in HB. It is important to investigate the involvement of the Hippo pathway in HBs as a possible therapeutic target.

Subependymal Giant Cell Astrocytoma Non-Associated With Tuberous Sclerosis Complex and Expression of OCT-4 and INI-1: A Case Report.

Subependymal giant cell astrocytoma (SEGA) is a rare, slow-growing tumor with a dual (neuroglial) component that is typically associated with tuberous sclerosis complex (TSC). We present the case of a healthy 19-year-old man with mild occipital trauma followed by two weeks of intense headache, with no response to analgesics. Imaging studies revealed a well-defined tumor in the left paraventricular zone. A biopsy showed a SEGA (GFAP+, NF+, nestin+, CK-EA3/EA4+, and TTF1+). TSC was ruled out. An immunohistochemistry (IHC) panel showed aberrant cytoplasmic expression of octamer-binding transcription factor 4 (OCT-4) in endothelial cells, pericytes, and some astrocyte-type cells; integrase interactor 1 (INI-1) expression was observed in the cytoplasm of neoplastic cells; SEGA was not associated with TSC; the expression of nestin and OCT-4 suggested their origin in neuroepithelial stem cells; thyroid transcription factor 1 (TTF-1) expression supported its origin in diencephalic structures. Tuberin expression was decreased. An aberrant pattern of INI-1 was observed, which, together with OCT-4 findings, has not been previously described.

Neuro-Behçet With a Thalamic Lesion: A Case Report.

Behçet's disease (BD) is an autoimmune disease characterized by multisystemic variable-vessel vasculitis and oral, genital, and intestinal ulcers. Neurological involvement or "Neuro-Behçet" (NB) manifests due to parenchymal inflammation. We present the case of a 21-year-old male with a five-year-old history of intermittent chronic oral and genital ulcers who presented with headache, right hemiparesis, progressive loss of visual acuity, and a thalamic tumor-like lesion on magnetic resonance imaging (MRI). A brain biopsy showed multiple perivascular infarcts associated with vasculitis affecting arterioles, venules, and capillaries.

Anti-N-Methyl-D-Aspartate Receptor Encephalitis With Diffuse Demyelinating Plaques: A Case Report of an Atypical Presentation.

Anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis is an autoimmune disease triggered by antibodies against the NR1 subunit of this receptor. It has a wide variety of presentations, including abnormal behavior, psychosis, seizures, abnormal movement, insomnia, and irritability. The diagnosis is confirmed by the presence of one of the six main symptoms and anti-NR1 immunoglobulin G (IgG)-positive antibodies in the cerebrospinal fluid (CSF) after the exclusion of other disorders. We present a case of an 18-year-old female with progressive paresthesia and muscle weakness that compromised walking and psychiatric symptoms. She was admitted to a private institution where magnetic resonance imaging (MRI) revealed pseudotumoral lesions, which led to surgical intervention. The original histopathological diagnosis was of a pleomorphic xanthoastrocytoma (PXA) WHO grade 2. As symptoms persisted, she was referred to our institution where a new MRI was performed, and a biopsy was re-evaluated. It showed perivascular inflammatory infiltrates composed of T cells, intense peripheral gliosis, nodules of macrophages, and reactive astrocytes in the white matter with fragmentation and vacuolation of myelin sheets, suggesting a demyelinating process in contrast to neoplasia. CSF analysis was performed, and it was positive for anti-NMDA antibodies. Immunohistochemical positivity for N-methyl-D-aspartate (NMDA) was observed in the neuronal nuclei, which led to the diagnosis.

Schwannoma and Post-vaccine Changes: A Case Report.

Schwannomas are benign sheaths of Schwann cells that can present with degenerative and morphological changes; necrosis or hemorrhage are rare findings in these tumors. We present the case of a 28-year-old man with a C2-C4 cervical Schwannoma who experienced upper limb paresthesia in 2020 while presenting with COVID-19 symptoms. The patient later recovered and came to our institution, where surgery was scheduled one year after the initial diagnosis. One week before surgery, the patient received the first dose of the Moderna vaccine. Despite being asymptomatic, the patient underwent successful total resection of the schwannoma, which was confirmed histologically. However, extensive necrosis with abundant foamy macrophages was observed, suggesting a possible link to post-vaccine effects.

Steven-Johnson Syndrome Induced by Lamotrigine and Valproic Acid in a Pediatric Patient: A Case Report.

Steven-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are part of a spectrum of severe cutaneous adverse reactions, secondary to infections or drug-induced. Although the use of antiseizure medications (ASMs) is a risk factor for the development of SJS/TEN, primary care physicians are not familiar with these cases in some countries. We report a case of SJS associated with ASMs in a nine-year-old girl with a history of difficult-to-control epilepsy, who required adjustment and change in medications.