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.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, clinically aggressive hematologic malignancy, that most commonly manifests as cutaneous lesions. A 19-year-old Malian female was admitted to the Unit of Medicine of Hopital du Mali with anemia, fever, weakness, and weight loss. On physical examination she was wasted, pale, febrile (37.4°C), and had inguinal and axillary lymphadenopathies. The complete blood count found pancytopenia with Hemoglobin level of 4.8 g/dL, Leucocytes count of 1900/μL (neutrophil: 300/μL), and platelets count of 56 000/μL. The ultrasonographic examination found hepatomegaly and splenomegaly. The bone marrow biopsy and flow cytometer analysis were in keeping with a diagnosis of BPDCN. The patient, unfortunately, was lost four months later after her hospital admission due to late diagnosis by septicemia. The early diagnosis and availability of specific drugs for acute leukemia could improve the clinical outcome of patients with BPDCN in Mali.

Introduction: Stroke is the second leading cause of death worldwide. In Mali, very few studies have been carried out on stroke in young subjects. Nowadays, stroke is increasingly seen in young subjects. Hence the need to identify risk factors in order to adopt appropriate preventive measures. Method: We carried out a retrospective descriptive study in the internal medicine department at the Hospital of Mali in Bamako from January 1 to December 31, 2022, in patients admitted for stroke confirmed by brain imaging (Scanner or Nuclear magnetic resonance imaging). Sociodemographic characteristics, medical history and biological parameters were recorded and analyzed to identify risk factors in patients aged 15-45 years. Results: A total of 44 patients out of a total of 446 hospitalized in the department were analyzed, of whom 31.8% (15/44) were young subjects. The majority (71.42%) had ischemic stroke compared with 14.28% with hemorrhagic stroke. The difference was statistically significant (p<0.001).Hypertension was the most frequent vascular risk factor compared with elderly subjects (p=0.045). Other risk factors such as obesity and smoking were also associated with young age with an Odd Ratio (OR) of 3.25 and 2.0 respectively; however, these associations were not statistically significant (p>0.05). The main causes of stroke in young subjects were atherosclerotic plaques and emboligenic heart disease. Undetermined causes accounted for 40.1%. Conclusion: Stroke prevention in young subjects involves screening for risk factors, especially hypertension. The vital prognosis depends on the cause of the stroke, but the functional prognosis remains better than that of the elderly.