Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man.

OBJECTIVE: To describe the case of an African patient who was diagnosed with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). METHODS: Case report and literature review. RESULTS: We present a 39-year-old Gabonese man who developed progressive gait difficulty at the age of 32, followed by insidious tetraparesis, urinary sphincter disturbance, spastic dysarthria, cognitive dysfunction, and seizures. Brain imaging was performed many years after disease onset and revealed diffuse confluent white matter lesions and lacunar infarcts. He tested negative for acquired white matter disease, but genetic screening detected a genetic variant of HTRA1 gene (G283R), which has not been previously reported. CONCLUSIONS: CARASIL is a disease that usually affects Asian patients. This case report describes a unique case of an African patient diagnosed with CARASIL and a novel genetic mutation in HTRA1 that has not been previously described in the literature.

COVID-19 and Teleneurology in Sub-Saharan Africa: Leveraging the Current Exigency.

Africa has over 1.3 billion inhabitants, with over 60% of this population residing in rural areas that have poor access to medical experts. Despite having a ridiculously huge, underserved population, very few African countries currently have any form of sustained and organized telemedicine practice, and even fewer have dedicated tele-neurology services. The ongoing COVID-19 pandemic has proved to be one of the most significant disruptors of vital sectors of human endeavor in modern times. In the healthcare sector, there is an increasing advocacy to deliver non-urgent care via telemedicine. This paper examined the current state of tele-neurology practice and infrastructural preparedness in sub-Saharan Africa. Currently, there is over 70% mobile phone penetration in most of the countries and virtually all of them have mobile internet services of different technologies and generations. Although the needed infrastructure is increasingly available, it should be improved upon. We have proposed the access, costs, ethics, and support (ACES) model as a bespoke, holistic strategy for the successful implementation and advancement of tele-neurology in sub-Saharan Africa.