Facial spasms revealing a Parry-Romberg syndrome: A case report.

Introduction and importance: Parry-Romberg syndrome (PRS) is a rare clinical entity characterized by progressive atrophy of the hemifacial region, occasionally associated with systemic manifestations. The presence of facial muscles spasms is exceptional. Case presentation: We report the case of a young woman who presented with progressive atrophy of the right hemiface associated with vitiligo and facial muscles spasms. The diagnosis of Parry Romberg syndrome was retained. Electromyogram showed an intermittent motor unit potential. Cerebral MRI showed atrophy of the muscle and subcutaneous fat of the right hemiface. She received corticosteroid in combination with botulinum toxin injection, which stopped the spasms. Clinical discussion: It is a rare condition with a poorly understood etiology, which is responsible for the delay in diagnosis often noted. The association of this syndrome with neurological signs is exceptional and rarely described in the literature. Injection of botulinum toxin associated with corticosteroids can stop the spasms but only surgery can reduce the facial deformities. Conclusion: Parry-Romberg syndrome is a rare disease, more frequent in women. It poses a real diagnostic problem and its treatment is poorly codified.

Surveillance of Viral Encephalitis in the Context of COVID-19: A One-Year Observational Study among Hospitalized Patients in Dakar, Senegal.

The burden of encephalitis and its associated viral etiology is poorly described in Africa. Moreover, neurological manifestations of COVID-19 are increasingly reported in many countries, but less so in Africa. Our prospective study aimed to characterize the main viral etiologies of patients hospitalized for encephalitis in two hospitals in Dakar. From January to December 2021, all adult patients that met the inclusion criteria for clinical infectious encephalitis were enrolled. Cerebrospinal fluids, blood, and nasopharyngeal swabs were taken and tested for 27 viruses. During the study period, 122 patients were enrolled. Viral etiology was confirmed or probable in 27 patients (22.1%), with SARS-CoV-2 (n = 8), HSV-1 (n = 7), HHV-7 (n = 5), and EBV (n = 4) being the most detected viruses. Age groups 40-49 was more likely to be positive for at least one virus with an odds ratio of 7.7. The mortality was high among infected patients, with 11 (41%) deaths notified during hospitalization. Interestingly, SARS-CoV-2 was the most prevalent virus in hospitalized patients presenting with encephalitis. Our results reveal the crucial need to establish a country-wide surveillance of encephalitis in Senegal to estimate the burden of this disease in our population and implement strategies to improve care and reduce mortality.

New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.

Founder mutations have been reported in BRCA1 and BCRA2 in different ethnic groups with inherited breast cancer. Testing of targeted mutations in specific populations is important for cancer prevention in mutation carriers. In Sub-Saharan Africa, only a few studies have reported specific founder mutations in inherited breast cancer. The pathogenic variant c.815_824dup of BRCA1 has been reported as the most frequent among African American populations with inherited breast cancer and was supposed to have a West African origin. Recent report from Senegal identified this variant in women with inherited breast cancer at the highest frequency ever reported. The variant was linked to a common haplotype confirming its founder effect in West Africa. In this article, we review the mutation history of c.815_824dup and discuss how it spread out of Africa through the transatlantic slave trade.