Clinico-pathological diagnosis of Facioscapulohumeral Dystrophy in a 22-year-old Male

Background: Facioscapulohumeral dystrophy (FSHD) is a rare hereditary disease with a prevalence of 2.03–6.8 per 100,000 individuals. FSHD is the third most common type of muscular dystrophy after the Duchene muscular dystrophy and myotonic dystrophy. To the best of our knowledge, the current case report is the first to report probable FSHD case mainly diagnosed using clinico-pathological evidence from sub-Saharan Africa (SSA). Case Report: A 22-year-old right-handed male college student presented with progressive proximal muscular weakness associated with wasting. The weakness started from the bilateral facial muscles and progressively involved proximal upper and lower limbs muscles associated with scapular winging, waddling gait, and bilateral foot drops. His bulbar, sensory, autonomic, and cognitive systems were spared. Muscles EMG showed myopathic patterns and normal serum CK. Muscle biopsy from affected muscles showed variation in fiber size with groups of angular fibers, preserved fibers, and hypertrophic fibers with marked fibrosis and adipose tissue replacement with no apparent inflammation and necrosis which is consistent with pathological features of muscular dystrophy. Considering the clinical semiology, physical findings, EMG findings, and pathological findings diagnosis of FSHD of scapuloperoneal variant was made. The patient was managed with analgesics, nutritional advice, and ankle prosthesis for foot drops. Currently, the patient is in a similar condition with modest improvement in his musculoskeletal pain complaints. Conclusion: This case highlights the fact that a careful clinical evaluation with thorough utilization of diagnostic investigations available at our disposal may support the diagnosis of FSHD in resource-limited areas where the necessary genetic tests were not available. Keywords: facioscapulohumeral muscular dystrophy, dystrophy, clinico-pathology, sub-Saharan Africa

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Challenges in the management of cardiovascular emergencies in Sub-Saharan Africa: a case report of acute heart failure complicating infective endocarditis in a semi-urban setting in Cameroon

BMC Research Notes ◽

10.1186/s13104-018-3361-2 ◽

2018 ◽

Vol 11 (1) ◽

Author(s):

Clovis Nkoke ◽

Denis Teuwafeu ◽

Cyrille Nkouonlack ◽

Martin Abanda ◽

Wilfried Kouam ◽

...

Keyword(s):

Heart Failure ◽

Case Report ◽

Infective Endocarditis ◽

Acute Heart Failure ◽

Urban Setting ◽

Sub Saharan Africa ◽

Sub Saharan

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Dementia With Lewy Bodies in a Nigerian: A Case Report

International Psychogeriatrics ◽

10.1017/s1041610202008402 ◽

2002 ◽

Vol 14 (2) ◽

pp. 211-218 ◽

Cited By ~ 7

Author(s):

Adesola Ogunniyi ◽

Effiong E. U. Akang ◽

Oye Gureje ◽

Masaki Takao ◽

Pedro Piccardo ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Case Report ◽

Dementia With Lewy Bodies ◽

Clinical Presentation ◽

Lewy Bodies ◽

Sub Saharan Africa ◽

Nigerian Subjects ◽

Sub Saharan ◽

Possible Cause

Dementia with Lewy bodies (DLB) is the second most common neuropathologically diagnosed cause of degenerating dementia after Alzheimer's disease. We report the first autopsy-confirmed case in sub-Saharan Africa in a Nigerian patient. The case presented highlights the varied clinical presentation of DLB, and is intended to raise awareness about another possible cause of dementia in Nigerian subjects.

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The Challenge of Diagnosing and TreatingStaphylococcus aureusInvasive Infections in a Resource-limited Sub-Saharan Africa Setting: A Case Report

Journal of Tropical Pediatrics ◽

10.1093/tropej/fmv045 ◽

2015 ◽

Vol 61 (5) ◽

pp. 397-402 ◽

Cited By ~ 2

Author(s):

Gemma Rovira ◽

Elisa F. Cooke ◽

Helio Mucavele ◽

Antonio Sitoe ◽

Lola Madrid ◽

...

Keyword(s):

Case Report ◽

Sub Saharan Africa ◽

Resource Limited ◽

Sub Saharan

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Hospital Mortality in Trauma Patients

International Journal of Orthopaedics Research ◽

10.33140/ijor.04.03.09 ◽

2021 ◽

Vol 4 (3) ◽

Keyword(s):

Mortality Rate ◽

Hospital Mortality ◽

Traffic Accidents ◽

Causes Of Death ◽

Cardiopulmonary Arrest ◽

Lower Limbs ◽

Sub Saharan Africa ◽

Trauma Patients ◽

Road Accidents ◽

Sub Saharan

Introduction: The study of mortality in a community makes it possible to define the axes of disease prevention and to readjust public health policies. The achieve of our study was to assess hospital mortality in trauma patients in an orthopedic department of a teaching hospital in sub-Saharan Africa. Patients and Method: We conducted a retrospective prognostic study evaluating hospital mortality during the period from March 1, 2013 to February 29, 2018. The results were analyzed using Statistical Package for the Social Sciences (SPSS) version 26.0. Results: Hospital mortality rate was 1.43%. The Circumstances of death were dominated by road accidents with 48.2%. Trauma to the lower limbs, the spine and polytrauma were the most frequently observed lesions on admission of patients with 40%, 27.3% and 28.2% respectively. Neurovegetative complications (29.51 %) and cardiopulmonary arrest (18.03 %) were the main causes of death at autopsy. Results: Hospital mortality rate was 1.43%. The Circumstances of death were dominated by road accidents with 48.2%. Trauma to the lower limbs, the spine and polytrauma were the most frequently observed lesions on admission of patients with 40%, 27.3% and 28.2% respectively. Neurovegetative complications (29.51 %) and cardiopulmonary arrest (18.03 %) were the main causes of death at autopsy. Conclusion: Traffic accidents are the most common cause of death from trauma. They can be avoided or limited by a good road safety policy.

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Stroke in Sub-Saharan Africa, from Thrombolysis to Decompressive Craniectomy: Case Report

Austin Journal of Cerebrovascular Disease & Stroke ◽

10.26420/austinjcerebrovascdisstroke.2017.1064 ◽

2017 ◽

Vol 4 (3) ◽

Cited By ~ 1

Author(s):

Ossou-Nguiet PM

Keyword(s):

Case Report ◽

Decompressive Craniectomy ◽

Sub Saharan Africa ◽

Sub Saharan

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Ten-year plateau phase in human immunodeficiency virus induced motor neuron disease upon antiretroviral therapy: a first case from Eastern Africa.

RRNMF Neuromuscular Journal ◽

10.17161/rrnmf.v1i5.13809 ◽

2020 ◽

Vol 1 (5) ◽

pp. 29-32

Author(s):

Marjolein De Bruin ◽

Emmanuel Assay ◽

Asha Osman ◽

Kajiru Kilonzo ◽

William Howlett ◽

...

Keyword(s):

Human Immunodeficiency Virus ◽

Case Report ◽

Antiretroviral Therapy ◽

Motor Neuron ◽

Motor Neuron Disease ◽

Sub Saharan Africa ◽

Eastern Africa ◽

First Case ◽

Immunodeficiency Virus ◽

Sub Saharan

We report an individual with rapidly progressive motor neuron disease (MND), phenotypically compatible with amyotrophic lateral sclerosis (ALS). The patient described in this case report proved positive for human immunodeficiency virus (HIV) and was initiated on antiretroviral therapy (ART). Following ART he clinically stabilised over 10 years and deteriorated again due to noncompliance or ART resistance. HIV infection can give rise to an MND mimic, HIV-ALS. The improvement in response to ART supports the notion that HIV-ALS is a treatable entity also in Africa. This is the first case report of a patient with HIV-ALS and long term follow up in Sub-Saharan Africa. The report raises the suggestion that an additional (retro)virus can play a role in the aetiology of ALS.

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Atopic dermatitis in adults from sub-Saharan Africa: epidemiological and clinical patterns, severity, and quality of life

Our Dermatology Online ◽

10.7241/ourd.20211.1 ◽

2021 ◽

Vol 12 (1) ◽

pp. 1-6

Author(s):

Emmanuel Armand Kouotou

Keyword(s):

Quality Of Life ◽

Atopic Dermatitis ◽

Urban Areas ◽

Cross Sectional Study ◽

Lower Limbs ◽

Sub Saharan Africa ◽

Clinical Aspects ◽

Cross Sectional ◽

Sub Saharan

Background: Atopic dermatitis (AD) is a chronic and recurrent inflammatory dermatitis often associated with other atopic manifestations, such as asthma and allergic rhinitis. This study aimed to determine the epidemiological and clinical aspects of AD and to assess the quality of life (QoL) of patients suffering from AD in our setting. Materials and Methods: This was a cross-sectional study conducted from February through April 2017 in seven hospitals in Cameroon. The study included patients above 18 who presented themselves to a dermatology consultation, were diagnosed with AD, and gave their consent. To assess the severity of AD and evaluate the QoL of the patients, standardized scales, such as SCORAD and QoLIAD, were employed. Results: The study enrolled 46 patients between 18 and 69 years of age with a mean age of 31 ± 12 years and the prevalence of AD at 1.5%. Most of the participants were females, with a sex ratio of 0.4:1, living in urban areas (93.5%). Food (34.8%) and cosmetic products (21.7%) were found as the main risk factors in the occurrence of AD. Upon physical examination, the upper and lower limbs were found to be the most affected in 84.8% and 54.3% of cases, respectively; in addition to cutaneous xerosis (45.7%), lichenification (43.5%), and excoriations (37%). Of the 46 patients, 9 (20%) had severe AD, 32 (70%) had moderate AD, and 5 (10%) had mild AD. QoL was impaired in 43 of the 46 patients (93.5%). Conclusion: Atopic dermatitis is a pathology that impacts the QoL of adults. A QoL assessment is, therefore, an important step in the management of AD.

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