Methylenetetrahydrofolate Reductase Gene Polymorphisms (C677T and A1298C) and Hemorrhagic Stroke in Moroccan Patients.

BACKGROUND: The number of deaths from hemorrhagic strokes is about twice as high than the number of deaths from ischemic strokes. Genetic risk assessment could play important roles in preventive and therapeutic strategies. The present study was aimed to evaluate whether the MTHFR gene polymorphisms could increase the risk of cerebral hemorrhage in Moroccan patients. METHODS: A total of 113 patients with hemorrhagic stroke and 323 healthy controls were included in this case-control study. The C677T (rs1801133) and A1298C (rs1801131) MTHFR gene polymorphisms were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method in all patients and controls. The genotype and allele frequencies were compared between groups using appropriate statistical analyses. RESULTS: Both groups, patients and controls, were in accordance with the Hardy-Weinberg Equilibrium. For the C677T polymorphism, the frequencies of the CC, CT, and TT genotypes were 50.44% versus 46.13%, 39.82% versus 43.03, and 9.73% versus 10.84% in controls versus patients, respectively, whereas for the A1298C polymorphism, the frequencies of the AA, AC, and CC genotypes were 56.64% versus 57.59%, 40.71% versus 37.15, and 2.65% versus 5.26% in controls versus patients, respectively. No statistically significant difference has been proved between patients and controls frequencies (P >.05) for all additive, recessive, and dominant models. Additional analyses including genotypes combination, allelic frequencies, and hemorrhagic stroke patient subtypes did not show any statistically significant difference between controls and patients/subgroup patients. CONCLUSIONS: Our findings suggested no association between MTHFR gene polymorphisms and susceptibility to hemorrhagic strokes in Moroccan patients. Further investigations should be conducted to elucidate the roles of other gene variants in the pathogenesis of this condition.

[Astroblastoma: A rare glial tumor]. / L'astroblastome : une tumeur gliale rare.

Astroblastoma is a rare neuroepithelial tumor most commonly seen in children and young adults. Due to its rarity, this tumor can be easily misdiagnosed as its classification, histogenesis and therapeutic management are still being discussed. We report the case of a 21 year old man, who presented at the Emergency Room for loss of consciousness. He reported a history of headaches, vomiting and decreased visual acuity. The CT and MRI showed a left temporoparietal solid-cystic mass with heterogeneous enhancement and perilesional edema. The patient underwent a total mass resection. On histopathological examination, tumor cells were organized in perivascular pseudorosettes which are typically encountered in astroblastoma, without neither necrosis nor endothelial hyperplasia. They had broad processes and rounded nuclei without any mitotic activity. Immunochemistry stains confirmed the diagnosis by showing a positive reactivity for GFAP, EMA, vimentin and S100. Astroblastoma is a rare glial tumor of uncertain origin. Clinical presentation and imaging are nonspecific. Therefore, its diagnosis is based on histopathologic findings: typical perivascular pseudorosettes. However, similar histological pattern may be seen in other glial neoplasms. In the 2016 WHO Classification, astroblastoma is among the "other glial neoplasms" without a grading system. So far, there are no reliable prognosis factors for this tumor; however, two entities have been described: well differenciated astroblastoma (considered as low grade) and anaplastic/malignant astroblastomas (considered as high grade). Gross total resection is the treatment of choice for astroblastomas. Adjuvant therapy is still controversial. This case illustrates a cerebral tumor which is rarely encountered in practice and that can cause diagnostic problems and subsequently, inadequate treatment.

Unusual location of myxopapillary ependymoma in the sacrum: Case report and review of the literature.

Myxopapillary ependymoma, a rare variant of ependymoma, commonly occurs in the conus medullaris or filum terminale. The rarity of these tumors can make their diagnosis and treatment challenging. This case report presents an atypical occurrence of myxopapillary ependymoma within the sacrum in a 68-year-old patient presented with a 3-month history of persistent left-sided low back pain radiating to the legs and fecal dysfunction. The patient underwent a sacral laminectomy and subtotal excision of the tumor, followed by adjuvant radiotherapy with favorable outcomes. This report highlights the significance of tailored approaches for unconventional tumor locations emphasizes the potential benefits of multimodal treatment strategies and provides insights from a comprehensive literature review on similar cases.

Deep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital.

BACKGROUND: Deep brain stimulation (DBS) is a well-established procedure that provides long-term symptom control of the third most common movement disorder: dystonia. In this study, we aim to report the experience of Ibn Rochd University Hospital in the treatment of dystonia using DBS of the globus pallidus internus, which represents an exceptional challenge for a developing country such as Morocco. METHODS: Since 2013, we selected five eligible candidates for DBS surgery at the university hospital Ibn Rochd. A genetic assessment had been performed in four cases. Their motor and mental states were prospectively monitored using several validated scales, including Burke-Fahn-Marsden Dystonia Rating Scale, Mini Mental State Examination, 36-Item Short Form Survey, and Zarit scale. RESULTS: Our sample had two clinical phenotypes of dystonia: isolated dystonia (in two patients) and combined dystonia (in three patients). Patients were aged 14 to 32 years, and their mean onset age ranged from 7 to 13 years with a mean progression duration of 9 years. Our results indicate successful treatment of patients with dystonia using DBS. Scores from the Burke-Fahn-Marsden Dystonia Rating Scale confirm improvements ranging from 40% to 95%. However, some potentially surgery-related complications could occur such as lead infection, which, in our experience, was reported in one case. CONCLUSION: The experience of the university hospital Ibn Rochd regarding the use of DBS in treating dystonia was largely positive. However, the procedure faces challenges due to its complexity, specifically concerning its multidisciplinary nature, its genetic test costs, and the reluctance of pediatricians to get involved.

Paroxysmal Sympathetic Hyperactivity After Traumatic Brain Injury: What Is Important to Know?

Traumatic brain injury (TBI) is one of the leading causes of morbidity and mortality. The etiologies of TBI are varied and its complications can lead to paroxysmal sympathetic hyperactivity that was first described as a "sympathetic storm" or "diencephalic autonomic seizure." The clinical manifestations are rapid and sudden onset of sympathetic hyperactivity characterized by tachycardia, systolic hypertension, hyperthermia, tachypnea, and diaphoresis, all summarized in the latest and most accepted diagnostic criteria. The pathophysiology remains controversial with many theories proposed. Given the clinical manifestations, the complications, outcomes, and lack of popularity of the syndrome, we report a case treated in our institution and review the current pathophysiology and treatment options.

Destructive Giant Cell Tumor With a Secondary Aneurysmal Bone Cyst of Cervical Spine: A Rare Pediatric Case Report.

Spinal giant cell tumor (GCT) and aneurysmal bone cyst (ABC) are infrequent neoplasms of bone. Thirty percent of ABCs are secondary to tumors, such as GCT. We report a rare case of a pediatric cervical spine secondary ABC to GCT that had to be multimodally managed through anterior and posterior surgical approach, embolization, and denosumab treatment leading to a stabilization of the remnant. The case shows the importance of therapeutic strategy decision that depends on the patient and the lesion.

Paraventricular meningioma revealed by mental disorder.

BACKGROUND: Ventricular meningioma constitutes 2% of intracranial meningioma, representing a challenging disease for neurosurgeons. Although cognitive impairment is one of the major symptoms of ventricular tumors, few studies have reported the details of cognitive impairment before and after their surgical removal. The expected effects on cognitive function should also be considered when choosing a surgical approach. CASE DESCRIPTIONS: We report the case of a large lateral ventricle meningioma revealed by cognitive dysfunction and moderate intellectual disability. The patient underwent subtotal resection of the tumor which had partial improvement in cognitive disorders. It is important to precisely assess neuropsychological function in patients with large brain tumors, and judicious preoperative plan, adequate knowledge of anatomy, and use of correct microsurgical techniques are fundamental in achieving complete resection of paraventricular meningioma with low morbidity. CONCLUSION: Pre and postoperative precise neuropsychological examinations may identify the potential cognitive impairment and beneficial effects of surgery in patients with large lateral ventricle meningiomas.

Clinicopathological features and molecular analysis of primary glioblastomas in Moroccan patients.

Glioblastoma is the most frequent and most aggressive primary brain tumor. Primary and secondary glioblastomas develop through different genetic pathways. The aim of this study was to determinate the genetic and clinical features of primary glioblastoma in Moroccan patients. The blood and tumor samples were obtained from a group of 34 Moroccan patients affected with primary glioblastoma. The tumors were investigated for TP53, IDH1, and IDH2 mutations using PCR sequencing analysis. Clinicopathological data showed that the mean age at diagnosis of patients was 50.06 years, the sex ratio was 11 F/23 M, and the median of Karnofsky performance score was 60. About 18 % of patients were initially treated by total tumor resection, 41 % by subtotal, and 38 % by partial resection, but biopsy was performed for a single patient (3 %). Twenty-five patients (74 %) received radiotherapy. In addition, the median survival of the all patients was 13 months following diagnosis. There was a significant impact of higher Karnofsky performance score (KPS) (≥80) on overall survival, p-log-rank test = 0.0002, whereas other parameters did not show any significant differences. The molecular analysis revealed TP53 mutations in 3/34 (8.82 %) cases; R273H, R306X, and Q136X. However, none of the analyzed samples contained the R132-IDH1 or R172-IDH2 mutations. These results showed the absence of IDH1 mutation in primary glioblastoma, confirming that this mutation is a hallmark of secondary glioblastoma. It can be used to distinguish primary from secondary glioblastomas. We found also that higher KPS was a significantly favorable factor in patients with primary glioblastoma.