Clara-Maria Schutte

Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus.

Paroxysmal nonkinesigenic dyskinesia (PNKD) causes episodes of treatment-resistant involuntary movements. Previous case reports showed effective treatment of PNKD with deep brain stimulation (DBS). We report 2 patients in whom DBS was highly successful when other treatment modalities had failed. Methods: Two patients aged 34 and 24 years with a longstanding history of PNKD were treated with globus pallidus internus (GPi) DBS. Motor effects were monitored and followed up postoperatively and again at 6 months after surgery. Results: Both patients responded very well to GPi DBS with complete suppression of dyskinesia after surgery in 1 patient and in the second after an additional adjustment of stimulation. Conclusion: GPi DBS might be an effective alternative treatment modality for PNKD.

Postictal headache in South African adult patients with generalised epilepsy in a tertiary care setting: A cross-sectional study

Postictal headache (PIH), although it occurs in 34–59% of epilepsy patients, has not been adequately studied. This study aims to describe clinical characteristics and associations of PIH in generalised epilepsy in a South African tertiary neurology clinic. Methods: Two-hundred consecutive adults with generalised epilepsy underwent semi-structured interviews, dividing them into study (with PIH) and control patients (no PIH), and data was statistically analysed. Results: PIH occurred in 104/200, with 63% having headache after every seizure. Pain duration was 4–24 hours in 43% and pain intensity severe in 55%. The criteria of the International Headache Society (2004), International Classification of Headache Disorders, second edition (ICHD-II) classified 47% as migraine, 38% tension-type and 15% unclassified (but 13% probable migaine). Self-medication occurred in 81% and interictal headache was significantly associated with PIH—present in 64% of study patients versus 5% of control patients. Conclusion: PIH occurs commonly in generalised epilepsy, mostly as migraine headache, with interictal headache a specific risk factor. PIH is underdiagnosed and undertreated, leading to self-medication. Optimal management should be elucidated in future studies.

Cryptococcal meningitis in a tertiary hospital in Pretoria, mortality and risk factors – A retrospective cohort study

Aim This retrospective cohort study analyzes the impact of possible risk factors on the survival chance of patients with cryptococcal meningitis. These factors include the patient’s socio-economic background, age, gender, presenting symptoms, comorbidities, laboratory findings and, in particular, non-adherence versus adherence to therapy. Methods Data were collected from all adult patients admitted to Kalafong Hospital with laboratory confirmed cryptococcal meningitis over a period of 24 months. We analyzed the data by the presentation of descriptive summary statistics, logistic regression was used to assess factors which showed association between outcome of measure and factor. Furthermore, multivariable logistic regression analysis using all the factors that showed significant association in the cross tabulation was applied to determine which factors had an impact on the patients’ mortality risk. Results A total of 87 patients were identified. All except one were HIV-positive, of which 55.2% were antiretroviral therapy naïve. A history of previous tuberculosis was given by 25 patients (28.7%) and 49 (56.3%) were on tuberculosis treatment at admission or started during their hospital stay. In-hospital mortality was 31%. Statistical analysis showed that antiretroviral therapy naïve patients had 9.9 (CI 95% 1.2–81.2, p < 0.0032) times greater odds of dying compared to those on antiretroviral therapy, with 17 from 48 patients (35.4%) dying compared with 1 out of 21 patients (4.8%) on treatment. Defaulters had 14.7 (CI 95% 1.6–131.6, p < 0.016) times greater odds of dying, with 9 from 18 patients dying (50%), compared to the non-defaulters. In addition, patients who presented with nausea and vomiting had a 6.3 (95% CI 1.7–23.1, p < 0.005) times greater odds of dying (18/47, 38.3%); this remained significant when adjusted for antiretroviral therapy naïve patients and defaulters. Conclusion Cryptococcal meningitis is still a common opportunistic infection in people living with HIV/AIDS resulting in hospitalization and a high mortality. Defaulting antiretroviral therapy and presentation with nausea and vomiting were associated with a significantly increased mortality risk.

Neurocysticercosis in a rural population with extensive pig production in Angónia district, Tete Province, Mozambique

Neurocysticercosis (NCC) is an important neurological disease in countries with high prevalence of Taenia solium infection and is emerging as a serious public health and economic problem. The aim of this study was to estimate the prevalence of NCC in Angónia district, Tete province, Mozambique based on: prevalence of human T. solium cysticercosis assessed by antigen Enzyme-linked Immunosorbent Assay (Ag-ELISA) seropositivity, history of epilepsy, and brain computed tomography (CT) scan results. A cross sectional study was conducted between September and November 2007 in Angónia district. Questionnaires and blood samples were collected from 1,723 study subjects. Brain CT-scans were carried out on 151 study subjects with confirmed history of epilepsy. A total of 77 (51.0% (95% CI, 42.7–59.2)) and 38 (25.2% (95% CI, 18.5–32.9)) subjects met the criteria for definitive and probable diagnosis of NCC, respectively. T. solium Ag-ELISA seropositivity was found in 15.5% (95% CI, 12.8–16.2) of the study subjects. The estimated life time prevalence of epilepsy was 8.8% (95% CI, 7.5–10.2). Highly suggestive lesions of NCC were found on CT-scanning in 77 (71.9%, (95% CI, 62.4–80.2)) of the seropositive and 8 (18.1%, (95% CI, 8.2–32.7)) of the seronegative study subjects, respectively. The present findings revealed a high prevalence of NCC among people with epilepsy in Angónia district. Determination of effective strategies for prevention and control of T. solium cysticercosis are necessary to reduce the burden of NCC among the affected populations.

Severe porphyric neuropathy - importance of screening for porphyria in Guillain-Barré syndrome

The hepatic porphyrias are a group of rare metabolic disorders, each of which is associated with a specific enzymatic alteration in the haem biosynthesis pathway. In South Africa (SA), a high incidence of variegate porphyria (VP) is seen as a result of a founder effect, but acute intermittent porphyria (AIP) is also encountered. The development of acute neurovisceral attacks is related to environmental factors, including medications, hormones and diet. A possible manifestation of a severe attack is rapidly progressing quadriparesis, which may mimic Guillain-Barré syndrome. We present four such cases, highlighting that acute porphyria should be considered in the differential diagnosis of Guillain-Barré syndrome. Three patients presented to Steve Biko Academic Hospital, Pretoria, SA, with progressive quadriparesis, and one to a private hospital with acute abdominal pain followed by rapidly progressive quadriparesis. Two patients had started antiretroviral therapy before the development of symptoms, and one had started antituberculosis therapy. All patients had marked weakness with depressed reflexes, and showed varying degrees of confusion. An initial diagnosis of Guillain-Barré syndrome led to administration of intravenous immunoglobulins in two patients. On testing for porphyria, it was found that two patients had AIP and two VP. Electrophysiological investigations revealed severe mainly motor axonal neuropathy in all. Two patients deteriorated to the point of requiring mechanical ventilation, and one of them died due to complications of critical illness. Haemin was administered to three patients, but the process of obtaining this medication was slow, which delayed the recommended early administration. The surviving patients showed minimal recovery and remained severely disabled. Porphyric neuropathy should always be considered as a differential diagnosis in a patient with an acute neuropathy, especially in SA. Absence of abdominal pain does not exclude the possibility of porphyria, and attacks may be precipitated by antiretroviral and antituberculosis medication. The outcome of our patients was not favourable; specifically, obtaining haemin was a challenge in the state hospital setting.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

BACKGROUND Cerebral autosomal dominant arteriopathy with subcortical infarcts and leuco-encephalopathy (CADASIL) is a hereditary autosomal dominant non-atherosclerotic non-amyloid cerebral arteriopathy. The disease was identified in 1993. We are not aware of reports in the literature of its occurrence in South Africa, and we present the clinical and laboratory features of 5 patients with CADASIL. METHODS Patients with the characteristic radiological white matter disease and typical features (family history, ischaemic events, migraine or dementia) were evaluated for possible CADASIL by means of clinical examination, routine investigations for strokes, magnetic resonance imaging, skin biopsy electron microscopy, evoked potentials and electroencephalography. RESULTS The clinical and laboratory features of our study largely correlate with reported studies. However, all of the skin biopsies were positive, and the onset of migraine in our patients was considerably earlier. A new finding, to our knowledge, was the normality of visual, somatosensory and auditory evoked potentials. CONCLUSION Our study confirms the existence of CADASIL in South Africa, and also suggests that skin electron microscopy is useful, despite recent reports of its low sensitivity, and that evoked potentials in CADASIL are likely to be normal.

Discrimination between Viral and Nonviral Meningitis by Visually Analyzed and Quantitative Electroencephalography

A prospective study was conducted to assess the ability of the visually analyzed electroencephalogram (VEEG), the quantitative EEG (QEEG) and the Glasgow Coma Scale (GCS) to discriminate between patients with viral and nonviral meningitis. The 55 subjects, aged 14-75 years, fell into one of the following categories: viral (n = 12), bacterial (n = 19), tuberculous (n = 16) or cryptococcal (n = 8) meningitis. EEG recordings and Glasgow Coma Scale (GCS) scores were obtained within 48 hours of admission to hospital. The sensitivity of the VEEG and QEEG for the prediction of patients with nonviral meningitis (true positives in this context) attained reasonably high values of 70% and 80%, respectively. In contrast, the sensitivity of the GCS was only 38%. Each of the three tests achieved high degrees of consistency in this regard with positive predictive values of 94% or better. The specificity for each of the three tests was high, 100% for the VEEG and the GCS and 82% for the QEEG indicating a high probability for the correct prediction of viral meningitis (true negatives). The consistency of this prediction was, however, poor due to negative predictive values of only 53% for the QEEG, 48% for the VEEG and 32% for the GCS. The QEEG results did not reveal any obvious advantages over the VEEG. Rather the assessment of the occurrence of particular VEEG abnormalities showed that patients with delta abnormalities had a very high probability of nonviral meningitis. At the other end of the spectrum, all normal VEEGs occurred in viral meningitis. In important respects the predictive ability of the EEG was superior to that of the GCS. While there was statistically significant agreement between the VEEG and GCS, the degree of agreement was poor. This study indicates that the EEG is a valuable and probably underestimated test in the acute phase of meningitis and provides complementary information to the GCS.

Compound heterozygosity in a South African patient with Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is characterised by weakness and atrophy of the facial and shoulder girdle muscles. The FSHD phenotype segregates as an autosomal dominant trait and is caused by a deletion of an integral number of 3.3 kilobase pair (kb) repeat units on chromosome 4q35. Haplotype and Southern blot analyses of chromosome 4 resulted in the detection of two BlnI resistant deletion fragments, of 24 kb and 34 kb respectively, in a single individual from a South African FSHD family. The patient had moderate facial weakness and marked winging and high-riding of the scapulae with prominent pectoral and proximal arm muscle atrophy and weakness. Quadriceps and anterior tibial muscles were weak and the patient had bilateral foot drop. Although none of his children were symptomatic yet and only two showed very mild clinical signs, one had inherited the 24 kb deletion fragment, while the other two had the 34 kb deletion fragment. Molecular analysis conclusively identified the first compound heterozygous case in the South African FSHD population. However, in accordance with other studies of compound heterozygotes and clinical findings, no direct correlation between the clinical severity of this patient and the number of deletion fragments was observed.

Isolated posterior fossa involvement of progressive multifocal leucoencephalopathy in HIV: A case series with review of the literature

Progressive multifocal leucoencephalopathy (PML) is a progressive demyelinating condition resulting from infection with the John Cunningham virus and precipitated by immunocompromised states. The HIV pandemic, especially in sub-Saharan Africa, has resulted in an increase in the number of patients presenting with PML. Imaging plays an important role in diagnosis and the distribution of the disease is predominantly supratentorial. Isolated posterior fossa involvement is a rare finding with very few cases described in the literature. We present the largest case series of patients described in the literature, with isolated posterior fossa involvement of PML, in HIV-positive patients.

Heroin-induced toxic leukoencephalopathy – “chasing the dragon” in South Africa

In South Africa, many illicit drugs have only recently been introduced and drug-related complications are often new to treating physicians. Heroin-induced leukoencephalopathy has been reported elsewhere in patients who inhale heated heroin vapors, a method known as “chasing the dragon.” The purpose of this paper is to present two patients, known to have inhaled heroin a few weeks prior to presenting with progressive neurological deficits.,Case presentations: two young males presented independently within eight weeks of one another with progressive slurring of speech, incoordination and weakness of the limbs over a period of two to three weeks. Both were known heroin addicts, and were known to one another, and both had inhaled heroin prior to the onset of symptoms.,The patients presented with a pancerebellar syndrome with marked bilateral upper motor neuron signs. CT scans showed diffuse symmetrical hypodense lesions involving the cerebral and cerebellar white matter with normal CSF. Both patients deteriorated neurologically, became cardiovascularly unstable and demised. Postmortem in one of the patients showed a prominent spongiform leukoencephalopathy consistent with reports of heroin-inhalation injury to the brain.,Toxic leukoencephalopathy due to heroin vapor inhalation was first described in the Netherlands in 1982. It has not been reported to occur with other modes of heroin use; an unknown toxin contained in heroin pyrolysate which forms when heroin is heated, may be causative. Brain MRI typically shows diffuse, symmetrical white matter hyperintensities on T2 and fluid-attenuated inversion recovery sequences in the cerebellum, posterior cerebrum and posterior limbs of the internal capsule with a posterior-anterior gradient. Pathologically, spongiform degeneration with relative sparing of subcortical U-fibers is seen. No treatment has been proven effective, but antioxidants and Vitamin E may be beneficial. Mortality is high at 23-48 percent.,This report emphasizes that spongiform leukoencephalopathy as a rare consequence of inhaling heroin vapors does occur in South Africa and clinicians should consider this disorder in their differential diagnosis of acutely developing leukoencephalopathy.,An awareness program regarding this grave condition is planned.,The cardiovascular complications of patients inhaling heroin vapor has not been highlighted previously. These are the first patients from Africa described with this condition. A toxic component appears likely.