Motor neuron disease in black African patients at a tertiary care hospital in Soweto, South Africa.

INTRODUCTION: In this brief report, we describe the nature of ALS in a South African cohort of patients of Black African ancestry - a population which has been historically understudied. METHODS: We performed a chart review of all patients attending the ALS/MND clinic at the Chris Hani Baragwanath Academic Hospital in Soweto, Johannesburg, South Africa, during the period 1 January 2015 to 30 June 2020. Cross-sectional demographic and clinical data captured at the time of diagnosis was collected. RESULTS: Seventy-one patients were included in the study. Males constituted 66% (n = 47), with a male to female sex ratio of 2:1. The median age at onset of symptoms was 46 years (IQR 40-57) with a median disease duration at diagnosis (diagnostic delay) of 2 years (IQR 1-3). The onset was spinal in 76% and bulbar in 23%. The median ALSFRS-R score at time of presentation was 29 (IQR 23-38.5). The median ALSFRS-R slope (unit/month) was 0.80 (IQR 0.43-1.39). Sixty five patients (92%) were diagnosed with the classic ALS phenotype. Fourteen patients were known to be HIV positive, and of those, 12 were on antiretroviral treatment (ART). None of the patients had familial ALS. CONCLUSION: Our findings of an earlier age at symptom onset and seemingly advanced disease at presentation in patients with Black African ancestry support the existing literature on the African population.

Optic neuritis: A South African hospital-based prospective study protocol.

BACKGROUND: Optic neuritis is a relatively common disease with an estimated lifetime risk of 0.6 per 1000; the estimated prevalence is 1-5 per 100 000/year. It occurs because of inflammation of the optic nerve from a variety of causes. The diagnosis of the disorder is established clinically and current literature is predominantly based on white patients from high-income countries. Optic neuritis presents differently in black patients compared to white patients. This study aims to assess the presentation and outcome of optic neuritis patients in a South African setting. METHODS: This is a prospective, hospital-based cohort study that will enrol patients with optic neuritis presenting to either the neurology department at Chris Hani Baragwanath Academic Hospital or the ophthalmology department at St John Eye Hospital, both in Johannesburg, South Africa. The specific aetiologies, clinical presentation and radiological findings will be studied, and the patient's course over one year will be documented in three-monthly follow-up visits. A specific group of patients with Neuromyelitis Optica Spectrum Disorders (NMOSD) and Myelin Oligodendrocyte Glycoprotein Associated Disorders (MOGAD) optic neuritis will be followed up for 5 years at yearly intervals. DISCUSSION: This study represents one of the few cohort studies in Sub-Saharan Africa that seeks to investigate optic neuritis. Our hope is that it will lead to better insights regarding the presentation, course and outcome of this condition. We will also analyse the data with a view of developing a predictive model for good visual outcome.

New onset seizures in HIV--seizure semiology, CD4 counts, and viral loads.

Thirty-seven HIV-positive patients with new-onset seizures (NOS) were prospectively identified during a 1-year study period. The patients were categorized according to the different mechanisms causing NOS in HIV, namely focal brain lesion (FBL) in 21 patients (57%), meningitis in 6 patients (16%), metabolic derangement (no patient), and no identified cause (NIC) other than HIV itself (10 patients, 27%). Seizure semiology, CD4 counts, and blood and cerebral spinal fluid (CSF) viral loads were studied to identify any special characteristics of the different categories. With respect to seizure semiology, all NIC patients had generalized seizures. Two-thirds of the meningitis patients had generalized seizures with one-third having focal seizures. Half of the patients with FBL had generalized seizures and one-third had focal seizures. Status epilepticus was strongly associated with FBL. No significant difference could be detected between the subgroups with respect to CD4 counts and serum and CSF viral loads. The median CD4 count in all patients was 108 cells/ml, indicating advanced immunosuppression. In the FBL group this was 104 cells/ml. In the meningitis group the median CD4 count was 298 cells/ml, and in the NIC group this was 213 cells/ml. Similarly, no differences were noted in the NOS categories with respect to serum and CSF viral loads. Seizures in HIV are a nonspecific manifestation of the seizure mechanism.

The frequency and profile of neurology in black South African HIV infected (clade C) patients - a hospital-based prospective audit.

AIM: To determine the frequency and spectrum of neurological illnesses in Black South African hospital-based HIV infected (clade C) patients. METHOD: A prospective audit of 506 consecutive HIV infected medical inpatients at the Helen Joseph Hospital, Johannesburg, South Africa. RESULTS: The patients had a mean age of 37 years; a male:female ratio of 1.2:1; a mean CD4 count of 107 cells/ml. Eighty four percent of patients had AIDS defining CD4 counts (less than 200 cells/ml). Seventy five percent of patients had a neurological illness. In 64% the neurological illness occurred in association with a non-neurological (systemic) illness. Eleven percent of patients had an isolated neurological illness. The predominant systemic illness was tuberculosis (TB), occurring with a frequency of 46%. The neurological spectrum in our patients was similar to that described in the literature, (clade B virus data) other than for a greater frequency of infectious illnesses. CONCLUSION: The neurological profile of HIV infection is a function of the environment and the immunological state of the patient (CD4 count) rather than an influence of the clade.

Brief Report: Late Efavirenz-Induced Ataxia and Encephalopathy: A Case Series.

BACKGROUND: WHO treatment guidelines recommend efavirenz in first-line antiretroviral therapy (ART). Efavirenz commonly causes early transient neuropsychiatric adverse events. We present 20 cases with severe encephalopathy accompanied by ataxia due to efavirenz toxicity. METHODS: Consecutive HIV-infected adults taking efavirenz-containing ART admitted to Tshepong hospital, Klerksdorp, South Africa with ataxia and encephalopathy were included in this case series. RESULTS: We identified 20 women admitted to hospital with severe ataxia. All received efavirenz-based ART for a median of 2 years. All had severe ataxia and none had nystagmus. Eleven had features of encephalopathy. Median weight was 34 kg [interquartile range (IQR): 29.7-35.3]; median CD4 count 299 cells/mm (IQR: 258-300) and most (18 of 19) were virally suppressed. Eight patients had a record of prior weights and 7 of 8 showed significant weight loss with a median weight loss of 10.8 kg (IQR: 8-11.6). All cases had plasma efavirenz assays, 19 were supratherapeutic (more than twice the upper level of therapeutic range), and 15 had concentrations above the upper limit of assay detection. Ataxia resolved after withdrawal of efavirenz at a median time of 2 months (IQR: 1.25-4) and recurred in 2 of 3 patients when rechallenged. Admissions before diagnosis were frequent with 10 cases admitted previously. Three women died. CONCLUSIONS: Efavirenz toxicity may present with severe reversible ataxia often with encephalopathy years after its initiation, likely in genetic slow metabolizers. We recommend that patients whose weight is <40 kg receive lower doses of efavirenz and that therapeutic drug monitoring be considered, and efavirenz stopped in patients presenting with ataxia. Eight patients had a record of prior subsequent weights and 7 of 8 showed significant weight loss gain; median gain of 10.8 kg (IQR: 8-11.6).

CIDP in a HIV endemic population: A prospective case series from Johannesburg, South Africa.

OBJECTIVE: To describe patients with Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) in Johannesburg, South Africa, a setting of high HIV prevalence, and to determine the influence, if any, of HIV on CIDP. METHODS: Patients were recruited prospectively. The study design was a hospital based case series of unselected consecutive CIDP patients. CIDP was diagnosed according to the European Federation of Neurological Societies/Peripheral Nerve Society criteria for the diagnosis of CIDP (First Revision). Demographic, clinical, laboratory and electrophysiological data were documented. RESULTS: Twenty three patients with CIDP were recruited over a two year period. Mean age was 38 years. The female to male ratio was 3.6:1. Less than half (43%) had a raised cerebrospinal fluid (CSF) protein. All patients had idiopathic CIDP, three had associated diabetes mellitus. Ten patients (43%) were HIV positive. Thirteen patients were HIV negative. Clinical and electrophysiological characteristics were identical in the two groups. In the HIV positive group all the patients were black females. The CD4 counts ranged from 87 to 747 cells/mm(3). HIV positive status was associated with a progressive disease course and significantly with a CSF lymphocytic pleocytosis (p=0.007). Albuminocytological dissociation was associated with HIV negative status. CONCLUSIONS: Testing for HIV in patients with CIDP in a region of high HIV prevalence is recommended. CSF lymphocytic pleocytosis occurs in HIV associated CIDP.

Stroke in black South African HIV-positive patients: a prospective analysis.

BACKGROUND AND PURPOSE: Stroke associated with HIV infection is poorly characterized. In this study we analyze the association in a black African population. METHODS: The clinical, laboratory, and radiological characteristics of 35 hospital-based black South African, heterosexual, HIV-infected patients who did not abuse intravenous drugs and presented with strokes were prospectively studied. The patients were antiretroviral therapy naive. Patients with other intracranial space-occupying lesions were excluded from the study. RESULTS: The age range was 20 to 61 years (mean, 32.1 years). There were 21 female and 14 male patients, with a female to male ratio of 1.5:1. Cerebral infarction occurred in 33 patients (94%) and intracerebral hemorrhage in 2 patients (6%). Underlying causes were identified in 30 of the 35 patients (86%) and included coagulopathies, meningitis, cardioembolism, and hypertension. The most common coagulopathy was protein S deficiency. No cause was found in 5 patients (14%). CONCLUSIONS: The results are similar to data from studies on young black African stroke patients who are HIV negative.

Is stroke a HIV-related neurologic manifestation?

Neurologic illnesses occur commonly in association with HIV infection, are frequently debilitating and often life-threatening. The commonly recognized HIV-related neurologic illnesses include encephalopathy (dementia), myelopathy, neuropathy and myopathy. Stroke as a HIV-related manifestation is an increasingly recognized and evolving issue. This article reviews the literature on the association of stroke and HIV, stroke risk and stroke mechanisms in HIV-infected patients, and the role of antiretroviral drugs in HIV-related stroke.

Multiple sclerosis in South Africa.

Since there are no well-documented epidemiological studies on multiple sclerosis (MS) in South Africa, we devised a questionnaire to determine qualitative data. Responses were obtained from 430 patients: 91% had magnetic resonance imaging (MRI) scans, 64% had lumbar punctures and 49% had evoked potentials to establish the diagnosis of MS. A total of 71% of the respondents were aged 30 - 59 years, 73% were female, and 89% were white. In terms of MS type, 46% had relapsing-remitting MS, 13% secondary progressive MS, 12% primary progressive MS, 12% benign MS, and 17% not known. Disease-modifying treatment was not used by 32% of respondents, and 30% were treated with methotrexate and 22% with interferon beta. These findings are similar to those in the literature, except for the under-utilisation of interferons as disease-modifying treatment.

Effect of human immunodeficiency virus on intensive care unit outcome of patients with Guillain-Barré syndrome.

OBJECTIVES: The primary objective of this study was to investigate the effect of human immunodeficiency virus (HIV) infection on the outcome of patients admitted to the intensive care unit (ICU) with severe Guillain-Barré syndrome (GBS) requiring mechanical ventilation. A secondary objective was to compare the clinical and laboratory features of HIV-seronegative and HIV-seropositive patients admitted to the ICU with severe GBS. DESIGN: Retrospective chart review. SETTING: Two tertiary, academic hospitals in Johannesburg, South Africa. MATERIALS AND METHODS: The case records of all patients admitted to the ICU with GBS between January 1995 and June 2002 were reviewed. Patients were included if their HIV status was known and if they had clinical features, electrophysiologic studies, and cerebrospinal fluid analyses consistent with GBS. Demographic data, days in ICU, days ventilated, CD4 T-lymphocyte counts (in the HIV group), cerebrospinal studies, infection rate, and mortality data were analyzed. RESULTS: A total of 13 patients met the inclusion criteria: seven were HIV seronegative and six were HIV seropositive. The median age in the HIV group was 34.5 yrs, compared with 47 yrs in the non-HIV group. There was no significant difference between the two groups in days spent in the ICU or days ventilated. There were no significant differences in cerebrospinal studies, electrophysiologic studies, and blood culture-positive infections between the two groups. All patients received intravenous immunoglobulin (0.4 g/kg/day for 5 days). There was one death in the HIV-seropositive group and no deaths in the HIV-seronegative group. The median CD4 T-lymphocyte count in the HIV group was 322.5 x 106 cells/L. CONCLUSION: HIV is commonly associated with GBS in South Africa. The ICU outcome in patients with HIV-associated GBS is similar to HIV-seronegative patients, particularly if the CD4 T-lymphocyte count is greater than 200 x 106 cells/L at admission.