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Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years ago, studies have been reported worldwide. However, genetically confirmed cases have been scarce in Africa. Objective: To describe the clinical and genetic aspects of HD in the Malian population. Methods: Patients with HD phenotype and their relatives were enrolled after obtaining consent. Symptoms were assessed using the Total Motor Scale (TMS) of the United Huntington’s Disease Rating Scale (UHDRS) and the Mini-Mental State Examination (MMSE). Brain imaging and blood tests were performed to exclude other causes. DNA was extracted for HTT sequencing. Results: Eighteen patients (13 families) with a HD phenotype were evaluated. A familial history of the disease was found in 84.6% with 55.5% of maternal transmission. The average length of the HTT CAG repeat was 43.6±11.5 (39–56) CAGs. The mean age at onset was 43.1±9.7years. Choreic movements were the predominant symptoms (100% of the cases) with an average TMS of 49.4±30.8, followed by cognitive impairment (average MMSE score: 23.0±12.0) and psychiatric symptoms with 22.2% and 44.4%, respectively. Conclusion: This is one of the largest HD cohorts reported in Africa. Increasing access to genetic testing could uncover many other HD cases and disease-modifying genetic variants. Future haplotype and psychosocial studies may inform the origin of the Malian mutation and the impact of the disease on patients and their relatives.

Background: Myelomeningocele (MMC) is the most common neural tube defect (NTD) characterized by the extrusion of the spinal cord into a sac filled with cerebrospinal fluid, resulting in lifelong disability. In the general population, the incidence of MMC ranges from 0.3 to 4.5/10,000 births. Live born infants with myelomeningocele have a death rate of approximately 10%. Many factors may play a role in the development of MMC such as environmental and genetic factors. In this study, we present our experience with a group of 63 children afflicted with MMC. Methods: This study was a retrospective analysis of 63 patients with MMC admitted to the neurosurgical department of Gabriel Toure Hospital from September 2017 to August 2018. A detailed history was obtained from the family at presentation. The family history and medical information before and during the pregnancy were compiled. Patients underwent complete physical and neurological examinations. Forty-seven (74.60%) patients underwent repair of the MMC and a ventriculoperitoneal shunt was placed in 12 (19%) patients with accompanying hydrocephalus. The risk factors, neurological status, and surgical results have been analyzed. Results: Of 63 children with MMC admitted to our neurosurgical department, 34 (54%) were boys and 29 (46%) were girls. Forty (63.49%) patients were the children of marriages of second cousins or closer. The mean age of the fathers was 34 years (16 - 65), while that of mothers was 26 years (16 - 38). The pregnancy was unplanned in all cases. Fourteen (22.22%) mothers had genitourinary infections, 9 (14.3%) had malaria and 57 (90.47%) mothers used analgesics and antibiotics during the pregnancy. Fifty-nine (93.65%) children were born at term, 58 (92%) were delivered via normal spontaneous vaginal delivery, and 5 (8%) via cesarean section. Lumbosacral lesions were the most frequent in 27 (42.86%) patients. Forty-seven (74.60%) patients underwent repair of the MMC and a ventriculoperitoneal shunt was placed in 12 (19%) patients with accompanying hydrocephalus. Wound infection developed in 2 cases in the postoperative period. The mortality rate was 4.3%. Conclusion: Myelomeningocele is a congenital anomaly for which several risk factors are known as well as environmental and genetic factors. This emphasizes the importance of prevention with folic acid supplementation and genetic advice.

Background: Fibrous dysplasia is an uncommon skeletal disorder in which normal bone and marrow are replaced with fibro-osseous tissue. The disease comprises 2.5% of all bone tumors and 7.5% of all benign bone neoplasm. It is the progressive, slowly developing disease and the optimum treatment remains unclear in many cases. Aim: In this study, the authors report their experience in the surgical treatment of four cases of craniofacial fibrous dysplasia. Cases presentation: The study involved 4 patients with craniofacial fibrous dysplasia. There were 3 men and a woman. The patients were 10, 17, 20 and 8 years old. No patient had a focal neurological deficit. The CT scan appearance was compatible with Fibrous dysplasia in all patients. The site of disease was frontal in one case and parietal in the other 3 cases. Cosmetic surgical treatment was performed in all patients. Cranioplasty was performed in one patient and planned for the other three. Conclusion: Fibrous Dysplasia is a benign slow growing disease that may cause as well as clinical symptom and aesthetical discomfort. Radical resection, if possible, is the only technique to obtain resolution of the disease.

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, respectively. Although widely reported in other populations, very little data exist in sub-Saharan Africa.Patients with neurodegenerative features were evaluated over a 19-month period at the Department of Neurology, Teaching Hospital of Point "G", Bamako, Mali. The diagnosis of HSP was considered based on family history and the absence of other known non-genetic causes. Genetic analysis including candidate gene and whole exome sequencing was performed and variant pathogenicity was tested using prediction tools and ACMG guidelines.Of the 170 families with hereditary neurological disorders enrolled, 16 had features consistent with HSP, a frequency of 9%. The average age of onset was 14.7 years with 46% starting before age 6. The male/female ratio was 2.6:1. Complex forms were seen in 75% of cases, and pure forms in 25%. Pyramidal findings were present in all patients. Associated features included mental retardation, peripheral neuropathy, epilepsy, oculomotor impairment and urinary urgency. Most patients were treated with a muscle relaxant and physical therapy, and restorative surgery was done in one. Genetic testing identified novel variants in three families (19%).This study confirms the clinical variability of HSPs and adds African data to the current literature.

Acalvaria is a rare and lethal congenital malformation characterized by the absence of the cranial vault bones, dura mater and associated muscles with complete cranial content. We report a 5-year-old Malian girl seen at 20 months old for facial dysmorphia, hemiparesis, and a cranial bone defect that improved progressively.

Introduction According to the taxonomy of the International Association for the Study of Pain (IASP 2011), neuropathic pain (NeuP) is defined as “pain caused by a lesion or disease of the somatosensory nervous system”. NeuP is currently well-defined clinically, despite a high degree of etiological variation, and it has become a significant public health problem. This work aimed to study the situation regarding NeuP in current practice in Mali, as well as to analyze the therapeutic environment of the patients. Methodology This was a retrospective and cross-sectional study, carried out in two phases: (1) compilation of the files of patients according to the ICD-11, over a period of 24 months (2) a second prospective phase regarding the Knowledge, Attitudes, and Practices (KAP) of general practitioners and neurologists in regard to NeuP. The focus of the first phase of the study was the files of the patients who had undergone a consultation at the Gabriel Touré UHC. The second phase of the study focused on the general practitioners (Community Health Centers (comHC) of Bamako) and neurologists (Malian or not). Results Over the period of the study, 7840 patients were seen in consultation in the Department of Neurology, of whom 903 for NeuP, thus amounting to a NeuP frequency of 11.5%. Women accounted for 58.9% (532/903), with a sex ratio of 1.4. Using a comparative normal law, the difference in frequency was statistically significant between males and females (p, Highlights • NeuP pain, irrespective of its type (diabetic NeuP, lumbar radiculopathies, pain linked to HIV, and pain linked to stroke), is encountered frequently in our current neurology practice in Mali. • Failed to comply with the NeuP treatment guidelines, thus highlighting the need for better training of health professionals involved in NeuP management in Mali. • Amitriptyline is the only validated drug that is readily available and affordable for most patients with NeuP. • Other effective drugs to treat NeuP should be on the list of essential drugs. Optimal management of NeuP in Africa also needs to take into account the local socio-cultural context and practices regarding pain.

Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.

Introduction Diabetic polyneuropathy (DPN) with or without neuropathic pain is a frequent complication of diabetes. This work aimed to determine the prevalence of diabetic polyneuropathy, to describe its epidemiological aspects, and to analyze the therapeutic itinerary of patients with DPN. Methods This was a cross-sectional, descriptive study performed synchronously over six months at two major follow-up sites for patients with diabetes in Mali. DPN was diagnosed based on the Michigan Neuropathy Screening Instrument (MNSI). The neuropathic nature of the pain and the quality of life of patients were evaluated by the DN4 and the ED-5D scale, respectively. We used three (3) different questionnaires to collect data from patients (one at inclusion and another during the follow-up consultation) and from the caregivers of patients with DPN. Results We included 252 patients with diabetes, and DPN was found to have a healthcare facility-based prevalence of 69.8% (176/252). The sex ratio was approximately three females for every male patient. The patients were mostly 31 to 60 years of age, 83% had type 2 diabetes, and 86.9% had neuropathic pain Approximately half of the patients (48.3%) had autonomic neuropathy and they reported moderate to intense pain, which was mainly described as a burning sensation. The patients exhibited impaired exteroceptive and proprioceptive sensations in 51.7% of cases. The patients smoked tobacco in 3.4% of cases, while 36.6% of the patients were obese and had dyslipidemia. The caregivers clearly indicated that appropriate medications were not readily accessible or available for their patients with DPN. Conclusion The healthcare facility-based prevalence of DPN with or without neuropathic pain was high in our cohort. These inexpensive and easy-to-use tools (MNSI, DN4) can be used to adequately diagnose DPN in the African context. In Mali, screening and early treatment of patients at risk of DPN should allow for a reduction of the burden of the disease, while caregivers need to be adequately trained to manage DPN.

Hereditary spastic paraplegias (HSPs) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSPs are present in sub‐Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSPs in developing countries.

Introduction La nevralgie cervico-brachiale est une pathologie relativement frequente chez l’adulte en periode d’activite professionnelle. Elle est une pourvoyeuse de douleur neurologique avec un retentissement negatif sur la qualite de vie des patients et donc source de handicap. Objectifs Etudier les aspects epidemiologiques cliniques et therapeutiques de la nevralgie cervicobrachiale en consultation dans le service de neurologie du C.H.U. Gabriel-Toure. Patients et methodes Il s’agissait une etude retrospective du 1er janvier 2013 au 31 decembre 2017 au CHU Gabriel-Toure, elle a concerne tous les dossiers de patients ayant consultes pour douleur cervico-brachiale. Resultats Nous avons note une predominance feminine avec un sex-ratio egal a 0,56. La moyenne d’âge etait de 52,88 ± 11,14 ans. La douleur etait cervicale et irradiait aux deux membres superieurs soit 26,6 % sur un trajet d’une racine nerveuse. Le diagnostic de la douleur neurologique de la nevralgie cervicobrachiale chez les patients a ete pose en tenant compte des criteres de la DN4. L’evolution sous traitement medical conservateur etait favorable dans 78,13 % des cas. Discussion La moyenne d’âge etait similaire comme dans la plupart des etudes. La douleur etait de type radiculaire chez la plus de la moitie des patients et etait associee a une arthrose cervicale. Le caractere invalidant a ete rapporte comme partout ailleurs. Le traitement medical a associe des antalgiques, des AINS et anti-epileptiques. Conclusion La nevralgie cervico-brachiale est une entite medicale relativement frequente en consultation, sa prise en charge necessite une approche multidisciplinaire.

Introduction Les cephalees et la lombalgie restent un motif frequent de consultation en medecine. Elles constituent de part leur handicap psychosocial un grand probleme de sante publique. Objectifs Etudier les connaissances attitudes et pratiques des traditherapeutes de la ville de Bamako en matiere de prise en charge des cephalees et des lombalgies. Methodes Il s’est agi une etude prospective, descriptive et transversale de un an (octobre 2016 a septembre 2017), effectuee aupres des tradipraticiens et herboristes de la ville de Bamako. Resultats Au total, 110 tradipraticiens ont ete colliges. Le sex-ratio etait 0,8. La tranche d’âge la plus representee etait 41–60 ans, plus de 98 % etait de confession musulmane dont une majorite non scolarisee (67 %). L’experience professionnelle etait superieure a 10 ans pour 88,18 % d’entre eux. La lombalgie et la cephalee etaient des motifs frequents de consultation. Dans 83 % des cas une origine organique etait evoquee. Les moyens therapeutiques utilises etaient la phytotherapie dans 64 % des cas. Discussion Le sexe feminin predominait comme dans la plupart des etudes. L’experience professionnelle s’acquiert au fil des annees. L’etiologie surnaturelle etait evoquee comme etiologie possible cependant l’origine organique etait aussi evoquee par la majorite des tradipraticiens. La therapie etait basee essentiellement sur la phytotherapie mais certains avaient recours a d’autres moyens traditionnels (incantation, fumigation, verset coranique etc.). Conclusion La prise en charge de la douleur doit integrer ses representations ou dimensions socioculturelles. La connaissance des determinants socioculturelles est le gage d’un systeme integree de prise en charge de la douleur en Afrique.

Introduction Les troubles du sommeil constituent une cause frequente d’accident de la voie publique et un probleme de sante publique majeur dans le monde en particulier dans les pays en voie de developpement. Objectifs Evaluer la frequence des troubles du sommeil et les accidents de la voie publique chez les routiers a Bamako. Patients et methodes Il s’est agi une etude transversale dans les auto gars de la ville de Bamako de fevrier a avril 2015. Ont ete inclus tous les chauffeurs des gars de Bamako ayant accepte volontairement de repondre au questionnaire. Resultats Quatre cents vingt deux routiers ont ete interroges, l’âge moyen est de 37,9 ± 8,5 ans. Ils avaient une tendance a l’obesite avec un IMC moyen a 29,08. La plupart des routiers consommaient du the, et 3,5 % des conducteurs declaraient prendre de l’alcool. Les fumeurs representaient 37,9 % avec une moyenne de 14,4 % cigarettes par jour et parmi eux 1,2 % avaient fume du cannabis. Discussion L’experience professionnelle des routiers etait de 12,9 ± 3,7 ans Le rythme du sommeil etait irregulier chez 46,4 % et une duree quotidienne de sommeil de 8 heures a 10 heures. L’insomnie etait favorisee par la charge de travail. Pendant la conduite 74,4 % declaraient avoir somnole et le repos etait un remede pour 69,4 %. Les routiers ayant moins de 15 ans d’experience faisaient plus d’accident. Conclusion Les troubles du sommeil entrainent des repercussions graves sur la conduite des routiers, les repercussions se voient plus quand les routiers n’ont pas assez d’experience dans la conduite.

Objective: to report the epidemiological and clinical aspects, the therapeutic itinerary and impact of back pain on the quality of life of patients in the neurology department of CHU Gabriel Toure Mali. Patients and methods: this is a longitudinal study, conducted over 1 year. All patients seen in the department of Neurology, Gabriel Toure teaching hospital of Bamako with low back pain. Results: hospital frequency of low back pain was 9.94% with female predominance 58.3% vs. 41.7% for men, mean age 49.5 years, with a range from 20 to 79 years. The pattern of evolution of the disease was acute in 19.2% and chronic in 80.8%. In fact 45% of our patients come in first intention to a General Practitioners, the average duration of follow-up at the level of GP was 215 days. 56.8% of patients had stop working and the average duration was 12 days, the estimated annual financial cost was 223,551.79 Francs XOF e.g. 341.3 Euro. A significant impact of back pain on quality of life, leisure, anxiety and depression was noted in most of the patients using the DALLAS self questionnaire. Conclusion: Low back pain remains a frequent reason for consultation in neurology. Typical low back pain is the most frequent form. Management is multidisciplinary.

Introduction L’epilepsie chez la personne âgee reste tres peu rapportee dans notre contexte. Ce travail a pour objectif de determiner les caracteristiques epidemio-cliniques de cette pathologie chez le sujet âge. Objectifs Il s’agissait d’une etude prospective realisee sur une periode d’un an dans le service de neurologie du centre hospitalier universitaire (CHU) Gabriel Toure au Mali. Patients et methodes Ont ete eligibles, les sujets âges de 50 ans ou plus qui ont presente au moins deux crises epileptiques documentees, constatees et rapportees par le patient et/ou son entourage. Pour le diagnostic de la crise, nous avons utilise le questionnaire valide de l’institut de neurologie et epidemiologie tropicale de Limoges. Resultats Durant la periode d’etude, 1753 patients ont ete admis dans notre service ; 39 cas d’epilepsie du sujet âge ont ete diagnostiques, soit 2,2 % des malades dans le service. L’âge moyen etait de 63 ans avec des extremes de 50 a 84 ans. Les crises partielles etaient les plus representees, soit 69,23 % des cas. Une epilepsie symptomatique a ete retrouvee chez 82,1 % des patients ; 18 % des patients n’avaient pas d’etiologie bien determinee. Discussion Les etiologies etaient dominees par les causes vasculaires, soit 64,1 % (25) des cas. Un traitement a ete mis en route chez tous nos patients avec un succes apres 6 mois. Le valproate de sodium (VPA) a ete la molecule la plus prescrite en premiere intention soit 51,3 % (20) des patients, suivi de la carbamazepine (41 %). Conclusion Cette etude confirme la frequence de cette affection dans cette tranche d’âge. Au vu de la polypathologie du sujet âge, cette affection necessitera une prise en charge pluridisciplinaire.

The West African countries have infrequent Cardiac Surgery Centers. Mitral valve replacement (MVR) from such countries raises important postoperative preoccupations. The aim of this study is to report indication and short-term outcomes of MVR at the Cardiac Surgery Center of the University Hospital in Dakar (Senegal). This is a retrospective analytical and descriptive study covering a period of 19 months (From January 2015 to July 2016). All patients with MVR associated or not with tricuspid valve repair were included in this study. Seventy-three (73) patients were eligible. The mean follow-up was 4.2 ± 4 months (range, 1-12). The mean age was 30.4 ± 13 years (range, 9–64). There were 74% of female patients, 53% were in New York Heart Association class III. Preoperative diagnoses were mitral stenosis (31.5%); mitral regurgitation (37%) and mixed mitral disease (31.5%). Crystalloid cardioplegia was performed in 92%, mean CPB time was 79 ± 21 min, mean cross clamp time was 58 ± 15.6 min. Mitral valve exposure was performed by left atriotomy (93%); 99% of mechanical prosthesis was performed. Tricuspid valve repair was performed concomitantly in 48% of patients. Overall Hospital mortality was 8%. Postoperative complications were low output syndrome (19%), pneumonia (12%), surgical wound infection (8%), Pleural effusion (7%). During follow-up, no valve-related morbidity and mortality was recorded. Mechanical valve replacement in Senegal has acceptable early outcomes in terms of morbi-mortality. Preoperative diagnoses were represented in equivalent proportions by mitral stenosis; mitral regurgitation and mixed mitral disease. Our complications were predominantly low output syndrome and pleura pulmonary disorders.

Introduction La migraine constitue par son caractere invalidant et sa prevalence chez le sujet jeune un reel probleme de sante publique dans le monde. Objectifs Etudier les aspects epidemiologiques et l’impact de la migraine en milieu scolaire dans le district de Bamako au Mali. Patients et methodes Il s’agit d’une etude transversale comparative de 3 semaines portant sur 1120 eleves d’un lycee du district de Bamako âges de 13 a 23 ans parmi 1157 eleves qui representaient l’effectif du lycee repartis en 3 strates. Les criteres IHS 2004 nous ont servi de referentiel dans la classification de la migraine. Resultats Au total, 652 etaient cephalalgiques dont 239 migraineux, soit une prevalence a 20,6 %. Le sex-ratio etait de 1,72. Parmi eux, 92,9 % avait 1 a 14 crises. La douleur etait unilaterale chez 86,6 % ; pulsatile chez 93,3 % ; intense chez 64,9 % ; exacerbee par les activites physiques chez 82,4 % ; avec des vomissements ou nausees chez 17,99 % ; une photophobie chez 53,56 % ; 91,2 % des eleves migraineux avaient connu un absenteisme de 1 a 14 jours pendant le dernier. Discussion La prevalence de la migraine etait de 20,6 %. Il existe une predominance feminine Les caracteristiques cliniques comparees aux etudes portant sur la qualite de vie du migraineux nous montrent que 92,9 % des migraineux ont eu entre 1 a 14 crises au cours du dernier trimestre et une limitation de concentration a suivre les cours chez 57,7 %. Conclusion La prevalence de la migraine reste elevee en milieu scolaire, elle est invalidante et constitue un reel handicap en milieu scolaire.

Introduction La migraine est une maladie caracterisee par la survenue d’acces repetes de cephalee pulsatile, en regle generale unilaterale, d’intensite variable (moderee a severe), elle reste peu connue par certains praticiens de soins de sante. Objectifs Evaluer les connaissances, attitudes et pratiques des medecins prescripteurs de premier niveau (des centres de sante communautaires) dans la prise en charge de la migraine. Patients et methodes Il s’agit d’une etude transversale et prospective dont la collecte des donnees s’est deroulee du 9 mars 2015 au 9 mai 2015 dans les centres de sante communautaires de Bamako concernant un echantillon de medecins exercant dans les CSCOM du district de Bamako. Resultats Cent douze medecins des CSCOM du district de Bamako ont ete interroges. La tranche d’âge de 31–35 ans representait 41,07 %. Le sex-ratio de 4/1. La majorite des medecins avait une experience professionnelle de 1–5 ans et deux tiers connaissaient la definition de la migraine. Au total, 69,6 % des medecins ne connaissaient pas les caracteristiques de la migraine. L’aura visuel etait le plus connu (14,3 %). Quatre-vingt-treize pour cent des medecins optaient pour un traitement en ambulatoire. Discussion La tranche d’âge 31–35 ans representait 41,07 % et l’experience professionnelle variait entre 1 a 5 ans. Ceci s’expliquerait par le fait que ces structures etaient generalement animees par les praticiens debutants. Il y avait plus d’hommes que de femmes, lie au fait que culturellement dans cette region on prefere inscrire les garcons a l’ecole, les filles consignees aux activites menageres. Conclusion La migraine est une pathologie frequente au Mali avec un impact socioeconomique tres eleve. Sa connaissance par les praticiens doit etre le gage de la reduction du handicap de cette pathologie.

Introduction La predominance de la NMO en region tropicale suggere la presence de facteurs favorisant la NMO dans ces pays. Il pourrait s’agir d’une predisposition genetique. Objectifs En Afrique subsaharienne la prevalence exacte de la NMO n’est pas connue. L’objectif de ce travail etait d’analyser les aspects epidemiologiques, cliniques et therapeutiques de la NMO au Mali. Patients et methodes Le bilan (IRM, anticorps ant-AQP4) non disponible a ete realise hors du pays. Resultats Nous avons collige sur une periode de 5 ans, une serie de 4 patients, âge de 19 a 40 ans, dont 2 femmes et 2 hommes, admise pour tetraplegie, associe a des troubles visuels evoluant par poussee. Nous avons retenu le diagnostic de NMO sur des bases cliniques (caractere recidivant de la symptomatologie), radiologiques (anomalies a l’IRM) et biologique (la recherche d’anticorps anti-AQP4). Le bilan (IRM, anticorps ant-AQP4) non disponible a ete realise hors du pays. Discussion L’IRM fut realisee chez 3 patients sur 4 ; la recherche des anticorps anti-AQP4 a ete possible chez 3 patients sur 4, est revenue positive. L’examen ophtalmologique realise chez tous les patients objectiva une baisse de l’acuite et un œdeme papillaire. L’evolution fut favorable sous corticoides, une patiente a ete mise sous immunosuppresseur (natalizumab). Conclusion Le diagnostic de la NMO reste difficile dans notre contexte inherent a la non-disponibilite des examens complementaires. La mise en route d’une etude multicentrique permettra d’apprehender la situation.