A novel de novo variant in the gene causes cleidocranial dysplasia in a Malian girl.

Key Clinical Message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.

Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes.

[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital 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".

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.

[Intravitreal injection at IOTA-teaching hospital about 201 patients].

Introduction: Intravitreal injections (IVT) of a drug aim to rapidly obtain effective concentrations greater than those that would be obtained by a periocular or intravenous injection. The objective of the present study is to demonstrate the contribution of IVT in the treatment of pathologies of the posterior segment of the eye.

Methodology: We conducted a 21-month ambidirectional observational study from January 1, 2020, to September 30, 2021.

Hereditary spastic paraplegia in Mali: epidemiological and clinical features.

Background And Purpose: 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.

Methods: Patients with neurodegenerative features were evaluated over a 19-month period at the Department of Neurology, Teaching Hospital of Point "G", Bamako, Mali.

Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.

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.

[Eye traumatism during the COVID-19 sanitary crisis at Iota-teaching hospital].

Introduction: During the COVID-19 pandemic, we have witnessed a world-wide lock-down of the population. This government action combined with the application of social distancing should in principle reduce the frequency of occurrence of ocular injuries. The goal of our work is to try to understand the circumstances of the occurrence of ocular injuries at the IOTA Teaching Hospital during the lock-down period of the COVID-19 health crisis.

[Evaluation of the quality of life of adult patients treated in low vision at the CHU-IOTA].

Introduction: Visual impairment is a handicap defined as any alteration of visual function responsible for a partial or total limitation of the activities of daily living (OMS, 2004). The objective of this study is to assess quality of life in patients before and after management of low vision.

Patients And Methods: This was a mono-centric, transverse, analytical study over a period of 6 months.

[Epidemiological study on the visual ability of official public transport drivers in Bamako].

The aim of this work was to evaluate the public transport drivers' visual driving ability in Bamako. We carried out a descriptive cross-sectional study from May 15 to July 15, 2013. The probabilistic method was used.

A novel mutation in in a Malian family with spastic paraplegia and sensory loss.

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 (c.

Epidemiology of pertussis in a West African community before and after introduction of a widespread vaccination program.

The control of pertussis remains a worldwide concern. Little has been documented about its epidemiology in Africa. The authors have studied pertussis in a prospective cohort of children in a rural West African community over a 13-year period comprising time before and after introduction of a vaccination program.

[Uretero-vesical injuries during pelvic surgery in women].

Injuries to the ureter and the bladder are common complications in female pelvic surgery. Unfortunately, they remain often unrecognized per operatively. Intravenous pyelography and renal ultrasonography are very efficient for post operative diagnosis.