Socio-cultural representation of epilepsy at the teaching hospital of point G, Mali.

Background: Epilepsy is a significant public health concern with psychosocial impacts, including fear, stigma, and misconceptions. These factors contribute to human rights violations and discrimination. The objective of this study was to describe the sociocultural representation of epilepsy in Mali. Materials and methods: This cross-sectional descriptive study was carried out from April 2015 to November 2016 at the University Hospital of Point G. Patients with epilepsy were identified prospectively, and a questionnaire was administered to each patient and their parents. Results: A total of 104 patients were enrolled with an average age of 35 years, ranging from 15 to 89 years. Males were slightly predominant, accounting for 53.85%, resulting in a sex ratio (M/F) of 1.17. In terms of occupation, workers comprised 68.27% of participants. Patients residing in urban areas represented 61.54%, and the most level of education was secondary (40.38%). The majority of patients (57.69%) and their relatives (69.23%) thought that epilepsy was caused by mystical causes. Stigma was reported by 66.35% of our patients. Conclusion: The sociocultural perception of epilepsy hinders evidence-based diagnosis and management in Africa. This study suggests a need to focus on raising awareness to change these misconceptions.

Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali.

Introduction: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination. Objectives: To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect. Patients and method: We have conducted a longitudinal and prospective study from January 2018 to December 2020. Patients with ARCA phenotype seen in the Department of Neurology at the Teaching Hospital of Point "G" were enrolled. Results: We have enrolled 7 families totaling 13 patients after giving an informed verbal and written consent. The sex ratio was 2.2 in favor of males, Kayes region and Fulani ethnic group were respectively the most represented region and ethnic group.Walking difficulty represented the major symptom followed by loss of vibration and joint sense, nystagmus, dysarthria and skeletal deformities. Alpha-foetoprotein level was high in one patient. Genetic testing confirmed Friedreich ataxia in one family and was not conclusive in 4 families. Conclusion: This study showed that ARCA are not uncommon in Mali and genetic testing is crucial to confirm the diagnosis.

Introduction: Les ataxies cérébelleuses autosomiques récessives (ACAR) constituent un groupe de maladies neurodégénératives rares et hétérogènes caractérisées essentiellement par un trouble de l'équilibre et de la marche, et un trouble de la coordination des mouvements. Objectifs: Caractériser les signes cliniques, paracliniques et génétiques des ataxies cérébelleuses autosomiques récessives au Service de Neurologie du CHU du Point "G". Patients et méthodes: Nous avons réalisé une étude de cas enrôlé dans le cadre d'une étude longitudinale et prospective allant de Janvier 2018 à Décembre 2020, portant sur des patients présentant des symptômes d'ACAR et ayant donné leur consentement éclairé. Résultats: Nous avons enrôlé sept familles totalisant 13 patients. Le sexe ratio était de 2,2 en faveur des hommes, la région de Kayes était la plus représentée et l'ethnie peulh était majoritaire. Les troubles de la marche ont représenté les signes majeurs suivis de troubles de la sensibilité profonde, de nystagmus, de dysarthrie, et des déformations ostéoarticulaires. L'alpha-foetoprotéine était élevée chez une patiente. Le test génétique a retrouvé l'ataxie de Friedreich dans une famille et n'a pas été concluant dans quatre autres. Conclusion: Cette étude montre que les ACAR ne sont pas rares au Mali et l'exploration génétique constitue un outil indispensable pour leur diagnostic de certitude.

[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"]. / EPILEPSIES MYOCLONIQUES PROGRESSIVES AU SERVICE DE NEUROLOGIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT "G".

Background: Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders. Objectives: We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder. Methods: After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point "G". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis. Results: 141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded. Conclusion: We report cases of PME in Mali with a possibility of discovering new genes.

Diagnostic et évaluation de la réponse thérapeutique de la leucémie myéloïde chronique au Mali par l'hybridation in situ fluorescente / Diagnosis and evaluation of the response to treatment of chronic myeloid leukaemia in Mali by fluorescent in situ hybridization

La leucémie myéloïde chronique (LMC) est une hémopathie maligne caractérisée par la présence du chromosome Philadelphie ou du gène de fusion BCR/ABL1. Au Mali, les approches génétiques de diagnostic et d'évaluation de la réponse thérapeutique de la LMC font défaut d'où l'intérêt de développer la méthode FISH (Hybridation in situ en Fluorescence) pour diagnostiquer et évaluer la réponse thérapeutique de la LMC. Méthodes. Nous avons analysé les cellules sanguines de 25 patients référés pour diagnostic ou évaluation thérapeutique de la LMC. Nous avons réalisé la FISH sur des cellules interphasiques et des métaphases, et la capture d'images cellulaires a été faite avec un microscope à épifluorescence. Résultats. Au total, 25 patients ont été inclus dont 16 pour diagnostic et 9 pour évaluation thérapeutique. Nous avons obtenu un taux de succès de 92% pour l'obtention des métaphases. En outre, nous avons observé des réarrangements ABL1/BCR à la FISH chez 22 des 25 patients. Parmi ces 22 patients, 16 ont présenté un patron de signaux typiques et 6 des patrons de signaux atypiques. Conclusion. Nous avons établi la technique FISH au Mali pour le diagnostic et l'évaluation thérapeutique de la LMC et identifié des formes atypiques de la translocation t(9 ;22).

Objective. Chronic myeloid leukemia (CML) is a hematologic malignancy characterized by the presence of the Philadelphia chromosome or its molecular equivalent, the BCR/ABL1 fusion gene. Diagnosis and monitoring of CML are done by detecting this chromosome, the BCR/ABL1 gene, or the BCR/ABL1 transcript. In Mali, genetic tools of diagnosis and follow-up are still lacking, so we did this study with the objectives of developing the FISH technique to diagnose, to follow up, and to characterize the cytogenetic profile of CML patients. Methods. We carried out FISH technique by using the dual color dual fusion probe for BCR/ABL1 on interphase nuclei and metaphases. Slides were scanned with an epifluorescence microscope. Results. A total of 25 patients (16 for diagnostic and 9 for follow-up) were included. We achieved a 92% success rate for obtaining metaphases. The BCR/ABL1 gene fusion signal was present in 22 patients. Among those 22 patients, 16 presented a typical signal pattern and 6 presented atypical signal patterns. Conclusion. We set up the FISH technique in Mali for the diagnosis and the follow-up of CML patients and identified atypical translocation of t(9;22).

[Factors associated with mental disorders in the psychiatric department of the university hospital centre of Point G in Mali.] / FACTEURS ASSOCIÉS AUX TROUBLES MENTAUX DANS LE SERVICE DE PSYCHIATRIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT G AU MALI.

INTRODUCTION: Mental health is a state of equilibrium and well-being, any alteration of which leads to the appearance of a state of distress and/or mental disorder. OBJECTIVE: The objective of this work was to study familial and environmental factors associated with mental disorders. MATERIALS AND METHODS: A cross-sectional study was conducted in the Psychiatry Department of the Point G University Hospital Center from April 1, 2016 to March 31, 2017 among outpatients with a psychiatric disorder in whom factors associated with psychiatric disorders were studied. RESULTS: We included 288 patients. The median age was 33.0 years. The sex ratio was 1.88 in favor of males. Married patients accounted for 45.5%. First born uterine siblings accounted for 26.7%. Patients born of an inbreeding alliance accounted for 25.7%. Cases with a family history of a psychiatric disorder represented 59.0% and those who spent their childhood with their parents accounted for 64.2%. Cases of psychoactive substance use prior to the onset of the mental disorder accounted for 42.7%. The main psychosocial stress factors that preceded the onset of the mental disorder were grief (46.2%) and family conflict (22.6%). Psychotic disorders accounted for 77.8%. CONCLUSION: Our results show an association of mental disorders with family history of psychiatric disorder among patients followed in psychiatry. Further studies, such as genetic association may prove useful.

[Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G]. / Aspects Cliniques et Paracliniques des Myopathies des Ceintures Récessives au Service de Neurologie du CHU Point G.

INTRODUCTION: Limb-Girdle Muscular dystrophies (LGMD) is a group of inherited diseases characterized by predominantly proximal and limb muscle weakness. These are rare diseases that have not been well studied in sub-saharan Africa. The aim of our was the clinical and paraclinical characterization of patients with recessive LGMD at the Department of Neurology of the Teaching Hospital of Point G. PATIENTS AND METHODS: We conducted a longitudinal prospective study which took place from March 2014 to May 2019. Patients with recessive LGMD phenotype were enrolled. Sociodemographic, clinical and laboratory data were analyzed. RESULTS: We enrolled 46 families (67 patients), i.e. a frequency of 16.7% among the neurodegenerative diseases seen in the service. Among them, 45.6% came from the Sikasso region. Autosomal recessive inheritance pattern was suspected in 67.4% of the families. Symptoms appeared mainly in the first decade of life. Proximal muscle weakness was found in almost all patients. Cardiac examination showed dilated cardiomyopathy in 4.5% of cases. CONCLUSION: Limb-Girdle muscular dystrophy is a disabling disease that is found in Mali. Further study of these cases could elucidate the underlying genetic defects.

[Haemorrhagic Stroke after Snakebite Envenomation Resulting in Irreversible Blindness in a 6-Year-Old Child in Mali]. / Hémorragie Cérébrale Post Envenimation par Morsure de Serpent Responsable D'une Cécité Irréversible Chez Un Enfant de 6 Ans au Mali.

Introduction: Snakebite envenomation can cause serious damage. Here, we report the case of a six-year-old male child bitten by a snake. Clinical description: The child presented a gingivorrhagia, abdominal pain, bloody vomiting and severe headache from a snakebite. Neurological examination showed paralysis of the III cranial nerve associated with bilateral blindness and mydriasis, unreactive on the right. The brain scan revealed a left frontal hematoma. The course on antivenom was marked by the disappearance of clinical signs except blindness which remained 18 months after discharge. Discussion - Conclusion: The hemorrhagic syndrome evoked viper bite. Blindness is rarely seen as a result of viperine envenomation. In our case, the presence of intracranial hypertension, absence of ocular lesions and scanner were in favor of compression of the optic nerves which resulted in permanent blindness.

Sleep quality assessment in 35 Parkinson's disease patients in the Fann Teaching Hospital, Dakar, Senegal.

INTRODUCTION: Sleep disorders are diverse in Parkinson's disease. We aimed to assess the quality of sleep in patients with Parkinson's disease in an African population. METHODS: In a transversal and prospective study from April to June 2014, all parkinsonian patients followed at the Fann Teaching Hospital Neurology Clinic (Dakar, Senegal) were assessed using the Hoehn and Yahr's scale and filled out the following questionnaires: Parkinson's disease sleep scale (PDSS), the Pittsburgh Sleep Quality Index (PSQI), and the Epworth Sleepiness Scale (ESS). A PDSS score<82 (or a subscore<5) and a PSQI score>5 indicated poor quality or impaired sleep. An ESS score>10 indicated excessive daytime sleepiness. We used the Pearson coefficient to search for correlation between age, disease stage, disease duration, and the importance of sleep impairment. RESULTS: Hoehn and Yahr staging was 2.42±0.90 in the 35 patients (60% male, mean age 65.7±7.4years, disease duration 32.4±23.4months). The mean total PDSS score was 99.5±24.1 and 74.3% of the patients had an abnormally high PSQI score, indicating high frequency and intensity of sleep disorders. Most frequent disorders were pain or cramps interrupting sleep, night waking to urinate and fatigue or sleepiness on waking. Patients exhibited excessive diurnal sleepiness in 22.9% of the cases; they often had an abnormal PSQI score. Both the total PDSS score and the difficulty to sleep increased with disease stage, but not with age or disease duration. CONCLUSION: We found evidence of major alteration of sleep quality in Senegalese Parkinson patients.

Clinical and genetic analysis of spinocerebellar ataxia in Mali.

BACKGROUND: Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe the clinical and molecular findings in 16 patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome. METHODS AND RESULTS: Molecular analysis allows genetic profiles of SCA to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats. SCA type 7 (CAG) mutation was confirmed in six patients. Mutations were expanded from 49 to 59 repeats. In three patients, SCA type3 was diagnosed and CAG mutation was expanded to 73 repeats. CONCLUSIONS: Our data suggest that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43.

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.

We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel homozygous single-nucleotide variant in the NHLRC1 gene, c.560A>C, producing the missense change H187P. The changed amino acid is highly conserved, and the mutation impairs malin's ability to degrade laforin in vitro. Pathological evaluation showed manifestations of Lafora disease in the entire brain, with particularly severe involvement of the pallidum, thalamus, and cerebellum. Our findings document Lafora disease with severe manifestations in the West African population.

[Using CT to diagnose brain tumors at the Point G Hospital in Mali]. / Apports de la tomodensitometie dans la prise en charge des tumeurs cerebrales a l'Hopital du Point G (Mali).

The authors report 27 cases of cerebral tumours in 22 men and 5 women age 1 to 81. Clinical symptoms were dominated by cranial hypertension (59.3%), focal motor impairment involving cranial nerves (51.9%.) and seizures due to epilepsy (44.4%). The main tumors detected with CT scan include glyoma (.5 cases), craniopharyngioma (3 cases), adenoma (3 cases), medulloblastoma (3 cases), and metastasis (3 cases). The supra tentoriel was predominant (76.9%). Neurosurgery was performed in 6 patients and 21 cases received medical treatment. We fund 13 cases of death. In conclasion, cerebral tumours are very severe pathologies because of the high mortality associated with. CT scan has contributed to diagnose the lesions, show their topography and to determinte the histological nature. Neurosurgery is necessary for the treatment of these lesions.