Combined central and peripheral demyelination in two siblings, immune mediated or genetic?

We report unusual cases of combined central and peripheral demyelination in two siblings related to pregnancy, each presenting with progressive tetraparesis and cranial nerve palsies. The elder sister had a relapsing-remitting course with optic nerve dysfunction and died during a relapse from respiratory insufficiency. The younger sister presented with disorientation and acute-onset limb and facial weakness. She responded well to corticosteroid therapy. Their clinical presentation, response to immunomodulatory therapy, nerve conduction studies, cerebrospinal fluid and histology supported an acquired demyelinating cause. Whole-exome sequencing identified variants in two genes not previously linked to this clinical phenotype. Serological tests for antibody-mediated demyelination were negative. Despite the undefined pathogenesis, these cases provide a platform to explore the confluence of genetic, immune and environmental factors in the context of acquired demyelination. We discuss the differential diagnosis and a diagnostic approach to such cases from the perspectives of neuroimmunology and neurogenetics.

The integrity of psychophysical visual function in non-immunocompromised PLHIV (NIPLHIV) without retinitis on antiretroviral therapy (ART).

Purpose: The present study investigated the integrity of contrast sensitivity (CS), colour vision, and pattern evoked vision potentials (VEP) in non-immunocompromised people living with HIV (NIPLHIV) without retinitis. Methods: All participants were visually asymptomatic and no history of ocular disorders, with CD4 counts above 350 cells/mm3, low viral loads and on ART. Thirty NIPLHIV and 30 age-matched HIV negative control groups underwent F100 hue colour assessment, Pelli-Robson contrast sensitivity assessment and pattern-reversal VEP. Results: The median F100 total error scores for NIPLHIV and controls was 33 (IQR: 28;41) and 28 (IQR: 26;48.50) respectively, this was statistically different (p= 0.020). The median P100 amplitude for NIPLHIV was 5.75 µV (IQR: 4.4;8.85) and 4.05 µV (IQR: 3.2;5.8) for controls, this was statistically different (p=0.045). The mean LogCS score 1.83±0.14 and the median P100 peak latency was 105.45 msec (IQR: 102.98;108.98) for NIPLHIV. Higher CD4+ counts were significantly associated with having higher F100 total error scores (OR=0.995; p=0.018), lower P100 amplitudes (OR=1.007; p=0.010) and higher P100 latencies (OR=0.994; p=0.011). Conclusion: Contrast sensitivity function, colour vision, and VEP were uncompromised in NIPLHIV. Associations between CD4 counts with F100 total error scores and P100 latency may aid in the surveillance of vision of NIPLHIV.

Experience of the new seizure diary in the Free State and Northern Cape.

BACKGROUND: Epilepsy is a neurological disease affecting adults and children globally. A seizure diary is one of the self-management tools for tracking seizures. This study aims to ascertain the experience of a new seizure diary by persons completing the diary in the Free State and Northern Cape of South Africa. METHODS: Adult patients with epilepsy attending Universitas Academic Hospital epilepsy clinic in Bloemfontein, clinics in Kimberley and the casualty department of Kimberley hospital (Robert Mangaliso Sobukwe hospital) received a new seizure diary. After using the diary for 6 months, participants (patients, relatives or caregivers) completed a questionnaire. RESULTS: A total of 139 epilepsy patients received a new seizure diary; 67 previously diary-unexposed participants and 33 participants who had previous exposure to a seizure diary. The majority of participants, namely 91% of previously diary-unexposed and 84.9% of participants who had previous exposure to the seizure diary, understood the new seizure diary. Participants who had previous exposure to a seizure diary were predominantly very positive about the new diary because it had more information. However, 21.2% indicated that they preferred the old one because it was easier to complete. CONCLUSION: Patients, caregivers or relatives from both groups used the new seizure diary and provided important information about their experience with the new diary. Despite a few complaints about using the new diary, most participants who had previous exposure to a seizure diary preferred the new seizure diary.Contribution: This study explored participants' opinions of the new seizure diary.

The perceptions and attitudes of patients with epilepsy to the use of a seizure diary, South Africa.

BACKGROUND: Epilepsy is responsible for a significant proportion of the world's disease burden, affecting around 50 million people globally. A seizure diary is a self-management tool for epilepsy focusing on self-monitoring, tracking seizures and other symptoms. This study aimed to determine the perceptions and attitudes to the seizure diary in patients with epilepsy in the Free State and Northern Cape of South Africa. METHODS: This cross-sectional survey method included adult patients with epilepsy attending Universitas Academic Hospital Specialist Epilepsy Clinic in Bloemfontein and local clinics in Kimberley (City, Beaconsfield and Betty Gatsewe), as well as the casualty department of Kimberley hospital (Robert Mangaliso Sobukwe Hospital). The Kimberley patients were diary-unexposed, while the Bloemfontein patients were patients who had previous exposure to the seizure diary. RESULTS: A total of 182 patients with epilepsy were recruited for the study, of whom 65 were patients who had previous exposure to the seizure diary, and 117 were unexposed. In the patients who had previous exposure to the seizure diary, 64 (98.5%) found the diary useful, but 15 (23.1%) reported having various challenges with using the seizure diary. Almost all of the patients who had previous exposure to the seizure diary, 64 (98.5%), were willing to continue to use the diary, while 112 (95.7%) of the diary-unexposed patients were also willing to use the diary. CONCLUSION: Information from some patients using the diary confirms various challenges with its use; however, most patients support the continued usage of the diary.

Current norms and practices in using a seizure diary for managing epilepsy: A scoping review.

BACKGROUND: Epilepsy is a chronic and debilitating condition affecting people of all ages in many nations. Healthcare practitioners look for effective ways to track patients' seizures, and a seizure diary is one of the methods used. This scoping review sought to identify current norms and practices for using seizure diaries to manage epilepsy. METHOD: A scoping review was performed by screening relevant studies and identifying themes, categories and subcategories. RESULTS: A total of 1125 articles were identified from the database; 46 full-text articles were assessed for eligibility, of which 23 articles were selected. The majority (48%) of the studies were prospective studies. The majority (65%) of the articles were studies conducted in the United States. The themes identified were types of seizure diaries used in clinical practice, contents and structure of a standardised seizure diary, the use and efficacy of seizure diaries in medicine and challenges relating to using a seizure diary for patient management. CONCLUSION: The study revealed that a seizure diary remains a relevant tool in managing epilepsy. The two forms of diaries in use are electronic and paper-based diaries. The high cost of data and the expensive devices required to access electronic diaries make it unsuitable in a resource-limited setting. Despite its disadvantages, imperfections and inadequacies, the paper-based diary is still relevant for managing patients with epilepsy in resource-limited settings.Contribution: This study reviewed the literature to find the current norms and practices in using seizure diaries. The benefits of the different formats were emphasised.

The relationship between retinal structure and visual function in non-immuno-compromised people living with HIV without retinitis on antiretroviral therapy.

BACKGROUND: This study sought to establish the association between retinal morphology, visual function and linear parameters of cerebral atrophy in non-immunocompromised people living with HIV (NIPLHIV). METHODS: Sixty participants (30 NIPLHIV, 30 controls), aged 18-45 years, were sourced from an outpatient clinic in South Africa. NIPLHIV on antiretroviral therapy (ART) had elevated CD4 counts and low viral loads. Macula thickness and volume measurements were obtained using the Spectralis optical coherence tomographer. Contrast sensitivity (CS), colour vision and visual-evoked potentials (VEP) were also obtained. Linear parameters of cerebral atrophy (Sylvian fissure ratio, SFR) and bicaudate nucleus ratio (BCR) were all acquired from computed tomography (CT) scans. Associations between retinal thickness and volume and visual function were established by principal component factor analysis. RESULTS: CS scores were indirectly associated with the Inner Nuclear Layer (INL)-ETDRS thickness and volume subfields (co-efficient = -0.07; p = 0.02 and -0.11; p = 0.001), respectively. F100 total error scores (TES) were directly associated with the thicknesses of Ganglion Cell Layer-ETDRS subfields (co-efficient = 6.06; p = 0.04) but indirectly associated with INL-ETDRS subfields (co-efficient = -5.49; p = 0.04). F100-TES were indirectly associated with volumes of RNFL (Retinal Nerve Fibre Layer)-ETDRS subfields (co-efficient = -5.54; p = 0.02) and inner retina -ETDRS subfields (co-efficient = -6.70; p = 0.02). P100 latency was directly associated with RNFL-ETDRS subfield thickness (co-efficient = 2.90; p = 0.02) and volumes of outer retina subfields (co-efficient = 2.72; p = 0.04). CS scores were directly associated with SFR (co-efficient = -0.04; p = 0.01). F100-TES were directly associated with BCR (co-efficient = 0.003; p = 0.004) and SFR (co-efficient = 0.002; p = 0.02). P100 latency was indirectly associated with BCR (co-efficient = -0.001; p = 0.03). CONCLUSION: The recognition of associations may be the first step in the proposal to develop a framework for the surveillance of vision in patients with NIPLHIV. We recommend a study of the sample population to track the stability of these observations before general recommendations for clinical care.

Current norms and practices in using a seizure diary for managing epilepsy: A scoping review

Epilepsy is a chronic and debilitating condition affecting people of all ages in many nations. Healthcare practitioners look for effective ways to track patients' seizures, and a seizure diary is one of the methods used. This scoping review sought to identify current norms and practices for using seizure diaries to manage epilepsy. Method: A scoping review was performed by screening relevant studies and identifying themes, categories and subcategories. Results: A total of 1125 articles were identified from the database; 46 full-text articles were assessed for eligibility, of which 23 articles were selected. The majority (48%) of the studies were prospective studies. The majority (65%) of the articles were studies conducted in the United States. The themes identified were types of seizure diaries used in clinical practice, contents and structure of a standardized seizure diary, the use and efficacy of seizure diaries in medicine and challenges relating to using a seizure diary for patient management. Conclusion: The study revealed that a seizure diary remains a relevant tool in managing epilepsy. The two forms of diaries in use are electronic and paper-based diaries. The high cost of data and the expensive devices required to access electronic diaries make it unsuitable in a resource-limited setting. Despite its disadvantages, imperfections and inadequacies, the paper-based diary is still relevant for managing patients with epilepsy in resource-limited settings. Contribution: This study reviewed the literature to find the current norms and practices in using seizure diaries. The benefits of the different formats were emphasized

The neuromyelitis optica presentation and the aquaporin-4 antibody in HIV-seropositive and seronegative patients in KwaZulu-Natal, South Africa.

BACKGROUND: The association of the anti-aquaporin-4 (AQP-4) water channel antibody with neuromyelitis optica (NMO) syndrome has been described from various parts of the world. There has been no large study describing this association from southern Africa, an HIV endemic area. HIV patients often present with visual disturbance or features of a myelopathy but seldom both either simultaneously or consecutively. We report our experience of NMO in the era of AQP-4 testing in HIV-positive and HIV-negative patients seen in KwaZulu-Natal, South Africa. METHODS: A retrospective chart review was undertaken of NMO cases seen from January 2005 to April 2016 in two neurology units serving a population of 7.1 million adults. The clinical, radiological and relevant laboratory data were extracted from the files and analysed. RESULTS: There were 12 HIV-positive patients (mean age 33 years), 9 (75%) were women and all 12 were black patients. Of the 17 HIV-negative patients (mean age 32 years), 15 (88%) were women and 10 (59%) were black people. The clinical features in the two groups ranged from isolated optic neuritis, isolated longitudinally extensive myelitis or combinations. Recurrent attacks were noted in six HIV-positive patients and six HIV-negative patients. The AQP-4 antibody was positive in 4/10 (40%) HIV-positive patients and 11/13 (85%) HIV-negative patients. The radiological changes ranged from longitudinal hyperintense spinal cord lesions and long segment enhancing lesions of the optic nerves. Three patients, all HIV-positive, had tumefactive lesions with incomplete ring enhancement. CONCLUSION: This study confirms the presence of AQP-4-positive NMO in southern Africa in both HIV-positive and HIV-negative patients. The simultaneous or consecutive occurrence of optic neuritis and myelitis in an HIV-positive patient should alert the clinician to test for the AQP-4 antibody. It is important to recognise this clinical syndrome as specific therapy is available. We further postulate that HIV itself may act as a trigger for an autoimmune process.