Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.

BACKGROUND: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance. CASE PRESENTATION: Here we report two patients belonging to a consanguineous Moroccan family who present with movement disorder pathology. They were suspected to have choreoacanthocytosis according to biological, clinical and radiological finding. Thus, whole-exome sequencing was performed for precise diagnosis and identified a homozygous novel nonsense mutation c.337C > T (p.Gln113*) in exon 5 of VPS13A in the two affected siblings. CONCLUSION: Here, we report a novel nonsense p.Gln113* mutation in VPS13A identified by whole-exome sequencing, which caused ChAc in a Moroccan family. This is the first description of ChAc in Morocco with genetic confirmation, that expands the mutation diversity of VPS13A and provide clinical, neuroimaging and deep brain stimulation findings.

Surgical Management and Outcome of the Planum Sphenoidale Meningioma: A Single-Center Strobe Compliant Study.

BACKGROUND: The resection of the jugum (planum) sphenoidale meningioma (JSM) is challenging, and there is a scarcity of available data in the literature. This study aimed to describe the surgical management and long-term outcome of jugum sphenoidale meningioma. METHODS: This was a retrospective, single-center, cohort study of 91 JSM patients treated in our department from 2005 to 2022. All the included patients have undergone surgical treatment. Clinical, radiologic, and surgical data were extracted with specific attention to the age at onset, family history, duration from symptoms to diagnosis, clinical presentation, quality of excision, recurrence, and treatment outcome. RESULTS: WHO grade I and grade II meningioma were 83.5% (n = 76) and 16.5% (n = 15) respectively. Fronto-lateral 42.9% (n = 39) and pterional approaches 57.1% (n = 52) were the 2 major surgical approaches used for the management of planum sphenoidale meningioma. Twelve patients needed emergency surgical treatment at admission: 4 (4.4%) External CSF Shunt and 8 (8.8%) VP-Shunt. We have found a statistically significant (P = 0.032) association between the quality of excision and the risk of recurrence. The GTR (Hazard ratio = 1) of the planum meningioma protects the patient from recurrence within 60 months of follow-up. Postoperative complications encountered were CSF-Leak in 2.2%, Meningitis 4.4%, surgical site infection 2.2%, and surgical site hematoma 3.3%. The overall postoperative favorable outcome was 68.1% (n = 62). CONCLUSIONS: The pterional approach has allowed the achievement of GTR for jugum sphenoidale meningioma with protective odds from recurrence risk.

Advocacy for Epilepsy Surgery in Africa: Moroccan Experience of 132 Cases.

BACKGROUND: In Africa, epilepsy is a real burden. Temporal lobe epilepsy is the most common drug-resistant focal epilepsy disorder, and temporal lobectomy is the most common effective treatment for patients with drug-resistant epilepsy. OBJECTIVE: We aim to highlight the Moroccan experience in epilepsy surgery and to ascertain its long-term outcome. Through the results of surgical treatment in our series, we hope to raise awareness of the need for epilepsy surgery in Africa and contribute to its development. METHODS: We present a retrospective study of 132 patients who underwent surgery for epilepsy from January 2005 to December 2021 at our institution. The presurgical evaluation was based on clinical screening, interictal electroencephalography, video-electroencephalography, neuropsychological tests, magnetic resonance imaging, and positron emission tomography in some cases. Data are presented as the median and ranges. For all analyses, P values <0.05 were considered statistically significant. RESULTS: Our series includes 132 patients (69 males; 52.27%); the median age at surgery was 24 years (range, 1-64). One hundred and fifteen patients (87%) were operated on for temporal lobe epilepsy, of whom 98 (85%) had anterior temporal lobectomy and 17 (15%) had lesionectomy. Seventeen patients (13%) were operated on for extratemporal epilepsy, of whom 4 had lesionectomy, 7 functional hemispherotomy, and 5 Gamma Knife stereotactic radiosurgery. Our postoperative outcomes 3 months after surgery found 113 patients (85.6%) seizure-free (Engel class I), 16 with Engel class II (12.1%), and 3 with Engel class III (2.3%) in temporal lobe epilepsy. In extratemporal lobe epilepsy, 12 patients (70.5%) showed Engel class I, seizure-free, 4 Engel class II (23.5%), and 1 Engel class III (6%). CONCLUSIONS: These results confirm that most patients with drug-resistant epilepsy may benefit from surgical treatment without submitting to preoperative invasive explorations. This finding should help develop epilepsy surgery widely in Africa.

Sphenoid plasmacytoma as initial presentation of multiple myeloma-case report.

Plasmacytoma is a rare plasma cell neoplasm. Whether solitary or associated with multiple myeloma (MM), it rarely involves the skull base, particularly the sphenoid bone. We present a unique case of sphenoid bone plasmacytoma secondary to MM, highlighting diagnostic and therapeutic challenges. A 56-year-old female presented with headaches, vomiting, epistaxis, and cranial nerve deficits. Cerebral imaging revealed a 65-mm tumor infiltrating the sphenoid bone and adjacent structures. Subtotal resection was performed using an endoscopic nasal approach. Histopathology revealed plasmacytoma, and diagnostic workup confirmed MM. By the end of biological exploration, relapse of the sphenoid plasmacytoma was observed, and the patient was successfully treated with radiotherapy, immunochemotherapy, and autologous stem cell transplantation. After 18-month follow-up, sustained complete remission was confirmed. Although rare, the diagnosis of plasmacytoma should be considered in cases of skull base tumors. This localization is highly predictive of MM, warranting comprehensive investigations to initiate prompt and adequate management.

Role of gamma knife radiosurgery in the management of pituitary adenomas and craniopharyngiomas.

INTRODUCTION: Radical microsurgical removal of pituitary adenomas (PAs) and craniopharyngiomas (CPHs) is often difficult. In such cases radiosurgery can be used as a second-line treatment option. MATERIALS AND METHODS: Our series included 436 PAs and 164 CPHs. The majority of patients had large or giant tumors and were treated with microsurgery. Additionally, between June 2008 and August 2011, a total of 29 PAs and 10 CPHs underwent radiosurgery using Leksell Gamma Knife PerfeXion. At the time of treatment the volume of the PAs varied from 0.6 to 26.0 cm3 (mean 5.9 cm3) and that of the CPHs from 0.19 to 17.0 cm3 (mean 6.6 cm3). The marginal doses ranged from 12 to 15 Gy (mean 14.5 Gy) for nonsecreting PAs, from 22 to 25 Gy (mean 24 Gy) for hormone-secreting PAs, and from 8 to 14 Gy (mean 11 Gy) for CPHs. RESULTS: The postoperative mortality rates after surgical removal of PAs via the transspenoidal approach and craniotomy were 2.4 % and 8.0 %, respectively, whereas after surgery for CPH it was 5.9 %. No major complications were noted in our limited number of patients after radiosurgical treatment. Taking into consideration only cases with radiological follow-up of at least 12 months, shrinkage of the tumor was demonstrated in 5 of 11 patients with a PA and in 4 out of 6 patients with a CPH. CONCLUSION: Radiosurgery is safe and effective second-line management option in cases of recurrent or residual PA or CPH. Occasionally, it can be applied even as a primary treatment in selected patients.

Outcome of Brain Metastases Treated with Gamma Knife Stereotactic Radiosurgery: A Retrospective Cohort Study of 205 Cases.

BACKGROUND: Brain metastases (BMs) are the most common expansive intracranial lesions in adults. Approximately 50% of patients diagnosed with new BMs will have >1 BM at the diagnosis. We report our experience with BMs treated with Leksell Gamma Knife stereotactic radiosurgery (GKSR) and evaluate the outcomes. METHODS: Patients treated by GKSR in our institution between 2008 and 2021 for BMs were evaluated retrospectively. RESULTS: A total of 205 patients (56.6% women) were included, with a median age of 59 years (range, 25-83 years). The breast (n = 85; 42.5%) and lung (n = 76; 38%) were the most common original locations for the primary tumors. Of the 205 patients, 103 (50.3%) had a single BM and 102 (49.7%) had ≥2 BMs. The median number of multiple BMs treated was 4 (range, 2-43). The mean overall survival (OS) time was 6.00 months (95% confidence interval [CI], 5.07-6.93 months) for all BMs. The median rate of tumor control after radiosurgery was 65% (range, 20%-99%) during a median follow-up of 6.00 months (95% CI, 3-84 months). In the overall population, the 1-, 2-, and 5-year OS rate was 37.55%, 25.12%, and 18.51%, respectively. The mean OS time was longer for those with multiple BMs than for those with a single BM (mean, 10 months [95% CI, 6.67-13.33 months] vs. mean, 5 months [95% CI, 4.21-5.70 months]; P = 0.03). Retreatment, tumor stability (control), and progression influenced the OS of patients with BMs, whether single or multiple (P < 0.001). CONCLUSIONS: GKSR provides good results in terms of OS and better quality of life for patients with BMs, whether single or multiple. Tumor stability and retreatment influenced the OS of patients with BMs.

Outcomes of single brain metastasis treated with gamma knife stereotaxic radiosurgery(GKSR). Our experience on 103 cases.

Background: Brain metastases (BM) occur in the natural course of malignant tumors in 18-40% of cases. Their management has changed considerably over the past decade thanks to the advent of Gamma knife Stereotactic Radiosurgery (GKSR). Objective: We report our experience on Single Brain metastasis treated with (GKSR). Methods: Patients treated by Gamma Knife stereotaxic radiosurgery (GKSR) in our institution between 2009 and 2021 for Single BM were recorded retrospectively. Results: A total of 103 patients (n = 52; 50.5% females) were included, with a mean age of 56.33 ± 11.33. Breast (n = 39, 37.9%) and lung (n = 36, 35%) were the common original location for the primary tumors. GKSR alone without prior surgery, radiotherapy, or chemotherapy was achieved in 81.5% (n = 84). Thirteen patients (15.1%) progressed in BM volume while finding the appearance of de novo BM in 5 (5.8%) patients. The median percentage of tumor control after radiosurgery treatment was 70% (IQR: 65-78) and only 26.2% (n = 27) of patients had > 80% tumor control and stability over the median follow-up time of 5 (95% CI, 4-6) months. We found only two cases of radionecrosis (1.9%). The median survival time was 5.21 (IQR, 3-8) months. Retreatment, recursive partitioning analysis (RPA) class, and tumor stability influenced the overall survival of BM respectively (Hazard Ratio adjust (HRa)= 5.610,p = 0.045; HRa= 6.133,p = 0.031; HRa= 22.463, p = 0.036). Conclusion: Stereotaxic Radiosurgery provides good results in terms of Overall survival with fewer neurocognitive disorders.RPA class and tumor control (stability) influenced the overall survival of single BM.

Papillary tumor of the pineal region: Is stereotactic radiosurgery efficient for this rare entity?

BACKGROUND: Papillary tumors of the pineal region are rare neuroepithelial lesions that were described for the 1st time in the WHO 2007 classification. Management of such lesions remains controversial. CASE DESCRIPTION: We describe the case of a 26-year-old female who presented with intracranial hypertension syndrome secondary to a 1.9 cm3 lesion of the pineal region causing hydrocephalus. The patient benefited from an endoscopic third ventriculocisternostomy and a biopsy of her lesion in favor of a papillary tumor of the pineal region. After discussion of the surgical risks, the patient refused the surgical option and a stereotactic radiosurgery (SRS) was performed. She improved both clinically (allowing her to regain autonomy) and radiologically (reduction of 60% of tumor volume) at 1 year follow-up. CONCLUSION: Because of the rarity of the lesion, literature is yet not able to find consensus concerning management of such lesion, but SRS has proven efficiency for these Grades II or III lesions with high recurrence rates. Therefore, it should be considered as a primary therapeutic option allowing good outcome with low risks for the patient.

Traumatic cervical spine injury: Short-and medium-term prognostic factors in 102 patients.

BACKGROUND: Traumatic cervical spine injuries (CSIs) can be defined as osteodiscoligamentous lesions and are frequent in the young and active population. These lesions are often associated with significant devastating neurological deficits. Here, we sought to establish short-and medium-term prognostic factors that could help predict future outcomes. METHODS: We retrospectively reviewed 102 adults admitted for traumatic CSI over an 11-year period (January 2004-December 2014). Patients were graded using Frankel scale as exhibiting good or poor outcomes. RESULTS: Two risk factors that significantly predicted results for CSI included original poor Frankel grades (e.g., A and B) and initial neurovegetative disorders (e.g., respectively, P = 0.019 and P = 0.001). However, we did not anticipate that two other risk factors, operative delay and mechanism of trauma, would not significantly adversely impact outcomes. CONCLUSION: Here, we identified two significant risk factors for predicting poor outcomes following CSI; poor initial Frankel Grades A and B and neurovegetative disorders at the time of original presentation.

Diagnosis, Management, and Outcome in 9 Children with Unilateral Posterior Synostotic Plagiocephaly.

BACKGROUND: Posterior synostotic plagiocephaly represents a rare challenging type of craniosynostosis, often misdiagnosed as a simple posterior positional plagiocephaly. Underdiagnosed forms may result in delayed diagnosis and neurosurgical management, with potential ophthalmologic, cognitive, and aesthetic sequelae in children. METHODS: Here we retrospectively analyzed data of 9 posterior synostotic plagiocephaly infants treated in our center over a 10-year period (January 2000-December 2009). RESULTS: Patients averaged 10 months of age, and there was a clear male predominance (8 males/1 female). Cerebral computed tomography scan was performed in all patients, and the abnormal suture was located at the right side in 7 cases (77.77%). Ipsilateral occipitomastoid bulge and occipital flattening were found in all cases (100%). Posterior ear displacement was found in 7 cases (77.77%), and there was minimal facial asymmetry in 4 cases (44.44%). The ophthalmoscopic examination found a papillary edema grade 1 in 2 cases and grade 2 in 4 cases. There were no deaths or reoperation in our series. All of our patients underwent a neurosurgical correction, with total ophthalmic recovery in all patients with preoperative papillae edema. Eight patients had an early satisfactory aesthetic aspect. Long-term follow-up in treated children found a normal childhood, with no major school dysfunctions and normal social integration. CONCLUSIONS: Interesting findings in our series were male gender predominance and predilection of the right-side synostotic lambdoid suture. We think that early correct diagnosis and appropriate neurosurgical treatment may prevent potential complications such as neurocognitive and aesthetic sequelae in children with posterior synostotic plagiocephaly.

Integration of Three-dimensional Magnetic Resonance Imaging Spectroscopy with the Leksell GammaPlan Radiosurgical Planning Station for the Treatment of Brain Tumors.

Introduction MRI multivoxel spectroscopy mapping is helpful in surgical decision-making. Unfortunately, in daily practice, MRI multivoxel spectroscopy mapping is not always compatible with the current version of Leksell GammaPlan (LGP) (Elekta, Stockholm, Sweden). The aim of this study is to develop a tool to allow the use of this modality in radiosurgical treatments using LGP. Material and methods Multivoxel spectroscopy digital imaging and communications in medicine (DICOM) images were analyzed to identify tags to be modified to make the images compatible with LGP. We identify four important tags to be modified for compatibility with LGP. Using Python language, a new software was designed to modify the identified tags and allow the automatic conversion of images to meet LGP requirements. Results By modifying the tags of DICOM images, we could use spectroscopic cartography images in radiosurgical planning using LGP. We created a software to reproduce these modifications using a simple and rapid interface. This software executes all the protocols established in the methodology. Conclusion The new software, "GP Adapting Solution", can convert any DICOM image and make it compatible with LGP. The integration of multivoxel spectroscopic images was feasible and could be used for radiosurgical planning. This work is the first step in allowing the potential use of new MRI modalities in radiosurgical planning using LGP. The next steps are to evaluate the impact of these modalities in radiosurgical treatments and to develop methods for integrating other imaging modalities.

Deep Brain Stimulation in Moroccan Patients With Parkinson's Disease: The Experience of Neurology Department of Rabat.

Introduction: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is known as a therapy of choice of advanced Parkinson's disease. The present study aimed to assess the beneficial and side effects of STN DBS in Moroccan Parkinsonian patients. Material and Methods: Thirty five patients underwent bilateral STN DBS from 2008 to 2016 in the Rabat University Hospital. Patients were assessed preoperatively and followed up for 6 to 12 months using the Unified Parkinson's Disease Rating Scale in four conditions (stimulation OFF and ON and medication OFF and ON), the levodopa-equivalent daily dose (LEDD), dyskinesia and fluctuation scores and PDQ39 scale for quality of life (QOL). Postoperative side effects were also recorded. Results: The mean age at disease onset was 42.31 ± 7.29 years [28-58] and the mean age at surgery was 54.66 ± 8.51 years [34-70]. The median disease duration was 11.95 ± 4.28 years [5-22]. Sixty-three percentage of patients were male. 11.4% of patients were tremor dominant while 45.71 showed akinetic-rigid form and 42.90 were classified as mixed phenotype. The LEDD before surgery was 1200 mg/day [800-1500]. All patients had motor fluctuations whereas non-motor fluctuations were present in 61.80% of cases. STN DBS decreased the LEDD by 51.72%, as the mean LEDD post-surgery was 450 [188-800]. The UPDRS-III was improved by 52.27%, dyskinesia score by 66.70% and motor fluctuations by 50%, whereas QOL improved by 27.12%. Post-operative side effects were hypophonia (2 cases), infection (3 cases), and pneumocephalus (2 cases). Conclusion: Our results showed that STN DBS is an effective treatment in Moroccan Parkinsonian patients leading to a major improvement of the most disabling symptoms (dyskinesia, motor fluctuation) and a better QOL.

Gamma knife radiosurgery for glossopharyngeal neuralgia: Marseille experience.

PURPOSE: Although Gamma Knife radiosurgery (GKR) is widely recognized as an effective and minimally invasive treatment for intractable trigeminal neuralgia, its role in glossopharyngeal neuralgia (GPN) has not yet been determined. METHODS: Between January 2002 and February 2009, 7 patients with medically intractable GPN were treated using GKR. Indication for GKR was the presence of medically intractable GPN, patient's refusal for open surgery or contraindication to microvascular decompression. Patients underwent preoperative investigation and were evaluated postoperatively with periodic assessment of pain relief and neurological function. Seven patients, 5 males and 2 females, with mean age 62 (range 36-83) presented with symptoms for an average of 28 months (range 8-72). Four patients had a neurovascular conflict. Patients were treated with a dose ranging from 60 to 80 Gy, targeted on the cisternal segment (n=2) or glossopharyngeal meatus (GPM) (n=5). RESULTS: Outcome was favorable with cure of GPN in 5 of 7 patients (71%) in the short-term (3 months post GKR) and 4 of 7 (57%) patients in the long term (&#62; 7 months, mean 16 months). One patient required 2 treatments because of a recurrence of symptoms and was treated with a maximum doses of 60 and 70 Gy, respectively. There were no neurological complications. CONCLUSIONS: All patients with GPM as a target that received a dose greater than 75 Gy were cured at long-term follow-up. The 2 patients with cisternal segment as the target and received a dose lower than 70 Gy were not cured of their GPN. There were no neurological deficits involving the lower cranial nerves. It will be necessary to investigate the optimal radiation dose and target of GKR for GPN in order to achieve long-term pain relief.