Theses and Dissertations (Neurology)

Permanent URI for this collectionhttp://hdl.handle.net/2263/32537

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A clinical, neurophysiological and genetic study of South African familial combined myoclonic syndromes
(University of Pretoria, 2021) Schutte, Clara; riaan.vancoller@up.ac.za; Van Coller, Riaan
Myoclonus is a complex disorder of rapid repetitive muscle jerks that can occur in proximal or distal appendicular or axial muscles. It can be of cortical, sub-cortical or spinal cord origin; part of progressive and severely disabling epilepsy syndromes, basal ganglia conditions, and physiological or even functional (psychogenic)1. A systematic review of the literature shows the knowledge gap of the genetic causes of myoclonus in South Africa with 25 identified publications from Africa of which eleven were from South Africa. Publications varied from case studies to case series and included four publications with cortical myoclonic tremor (CMT) and two with North Sea Progressive Myoclonic Epilepsy, two with subcortical myoclonus and case studies with rare cases of individuals with myoclonic disorders. In this publication the study of myoclonus in three different settings is presented. In the first: cortical myoclonic tremor (CMT), a rapid distal form of myoclonus, resembling tremor, with neurophysiological evidence of cortical origin. The study researched a South African family with Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE). The first part of this study showed the median onset of cortical tremor 16 was and that of epilepsy was 42 years; patients were stable with long term follow up after 30 years without evidence of progressive ataxia or cognitive impairment. The second part of the study presents the discovery of the genetic mutation causing this condition: a pentanucleotide repeat expansion in the intronic region of the STARD7 gene. This mutation was also found in families with FCMTE2 with a similar phenotype and followed on work showing pentanucleotide repeat expansion mutations in other forms of FCMTE in different genetic locations. The second setting proved a new mutation, a premature stop mutation p.L275X, in the epsilon-sarcoglycan gene causing subcortical origin, Myoclonus Dystonia Syndrome (MDS) in a three generation South African family with mild phenotype differences in the clinical presentation: myoclonus and dystonia in the same appendicular body part as well as truncal. Two of the affected individuals studied underwent Deep Brain Stimulation surgery of the Globus Pallidum with significant sustained improvement in the motor and non-motor features of MDS recorded and confirmed by a blinded rater. In the third setting, two patients with sporadic Paroxysmal Non-kinesigenic dyskinesia (PNKD) with the complex phenomenology of episodic dystonia, myoclonus and chorea of South African origin is presented. Both patients underwent successful DBS of the pallidum with long-term outcomes presented. Although these two individuals were not tested for the known myofibrillogenesis regulator-1 (MR-1) mutation they represent two cases of this rare disorder from South African setting and prove the successful use of DBS treatment.
Human taenia solium cysticercosis in the district of Angonia, Mozambique : prevalence rates and clinical aspects
(University of Pretoria, 2012-05-08) Schutte, Clara; Magnussen, Pascal; yunuss_assane@yahoo.com.br; Assane, Yunus Amade
Cysticercosis is emerging as a serious public health and agricultural problem in countries of Eastern and Southern Africa (ESA). Caused by a pork tapeworm, this zoonotic disease forms cysts in the tissues of pigs and humans that reduce the value of pigs, makes pork unsafe to eat and can lead to neurological disease including epilepsy and death in humans. It occurs where pigs range freely, sanitation is poor, and meat inspection is absent or inadequate, and thus strongly associated with poverty and smallholder farming. Although theoretically easy to control and declared eradicable cysticercosis remains neglected in ESA due to lack of information and awareness about the extent of the problem, lack of suitable diagnostic and management capacity, and appropriate prevention and control strategies. Mozambique is still lacking epidemiological data on human taeniosis and cysticercosis and it is not possible to draw firm conclusions on its prevalence and geographical distribution. Until now, all the work developed in this area has been exploratory and of a piloting nature. The objectives of the proposed study were 1) to determine the prevalence of neurocysticercosis (NCC) in humans in the district of Angonia, 2) determine the distribution of epilepsy and 3) explore possible relationships between NCC and epilepsy. The present study was conducted in the district of Angonia, located in Tete province in the central region of Mozambique. 1723 individuals from 16 towns of the two administrative posts, Ulongue and Domue in the Angonia district were included. The proportion of interviewed people reporting symptoms of epilepsy was 15,6% (268) while 84,4% (1454) reported no symptoms. A total of 249 (14,5%) were ELISA Ag positive for cysticercosis and 1774 (85,5%) were negative. Of those with positive ELISA Ag 118 (47,4%) had a history of epilepsy. CT scans were performed on 107 (90,7% ) of the 118 and 44 (33,6% ) of the ELISA Ag negative with symptoms suggestive of epilepsy. Of the ELISA Ag positive group, 77 (72%) showed abnormal scans suggesting NCC, compared to the 8 (18,2% ) in the negative group. 151 people were also submitted to EEG exam and 79 presented abnormal results. Considering the type of seizures of the total of 79 individuals, 73,4% (58) were affected by partial seizures and the remaining by generalized seizures. We concluded that T. solium NCC appears to be an important but overlooked cause of epilepsy in Angonia. The main recommendation for reducing the prevalence of human cysticercosis is to provide more effective education campaigns and proper sanitary facilities with improved health care and socioeconomic status of the people in developing countries, aimed at preventing both T. solium infection and cysticercosis.
Meningitis in South African adults : an evaluation of prognostic indicators, impact of HIV-infection, and diagnostic dilemmas
(University of Pretoria, 2005-10-28) Van der Meyden, C.H.; upetd@up.ac.za; Schutte, Clara-Maria
Meningitis remains a frightening disease with a high morbidity and mortality in spite of optimal treatment. In South Africa in particular, the incidence of HIV-infected patents with meningitis has risen considerably during the past decade. The first part of this meningitis study evaluated prognostic indicators in meningitis. In 100 adult patients with meningitis it was found that the Glasgow Coma Scale (GCS) at admission was a good indicator of the ultimate prognosis of the patient, with a GCS value of > 12 associated with a good outcome in 88% of patients. A GCS value of < 8 predicted an unfortunate outcome in 88% of patients. A high CSF protein level was also associated with an unfortunate outcome but the statistical significance was not as marked as with the GCS value. Age, CSF-neutrophil count, and glucose levels were also evaluated as possible prognostic indicators but were not found to be statistically significant. The electroencephalograms of 12 patients with pneumococcal meningitis showed that a grade 4 dysfunction within 48 hours of admission indicated a poor outcome; CT brain scans of 26 patients with TB meningitis showed that an adverse outcome was seen particularly in patients with TB meningitis and infarcts while in 33 patients with bacterial meningitis no specific sign was found to indicate a bad prognosis - probably due to the small number of patients evaluated. Prognostic factors in cryptococcal meningitis were lastly evaluated retrospectively in 44 patients; age, CSF white cell count and CD 4 counts were not found to be associated with outcome, while a GCS value of ≤ 14 at admission was found in almost three quarters of patients with an eventual adverse outcome. The second part of the study evaluated the impact of HIV-infection on meningitis. Between 1994 and 1998, the HIV-epidemic caused a marked shift in the spectrum of meningitis towards chronic infections such as TB and cryptococcal meningitis, while the incidence of HIV-related cases with meningitis rose from 14% in 1994 to 5% in 1998. A comparison of clinical, CSF and pathological findings and outcomes in 20 HIV-positive and 17 HIV-negative patients with tuberculous meningitis showed that HIV-infection does not significantly alter clinical and CSF findings in TB meningitis in South Africa, but ventricular dilatation and infarcts occur more frequently in HIV-positive patients. Diagnostic aids in meningitis were assessed in the final part of this study. The polymerase chain reaction for TB was measured in the CSF of 10 patients with suspected tuberculous meningitis and disappointingly only positive in two patients in spite of positive CSF cultures for TB in an additional four patients. Lymphnode biopsies were performed on seven patients with intracranial tuberculosis. Excision biopsy of an enlarged Iymphnode showing caseating granulomas and/or acid-fast bacilli confirmed the diagnosis of TB within 48 hours of admission. Thus, Iymphnode biopsies may be an effective and practical aid in diagnosing intracranial TB. Adenosine deaminase (ADA) levels are often elevated in both tuberculous and bacterial meningitis. ADA iso-enzymes analysis in 26 patients however, showed that the ADA2 iso-enzyme was the major contributor to increased ADA activity in the CSF of patients with tuberculous meningitis and not with bacterial meningitis. The EEG was evaluated as diagnostic aid in 55 patients with meningitis to discriminate between viral and non-viral meningitis. Sensitivities of 70% and 80% of VEEG and QEEG's respectively were attained for the prediction of patients with non-viral meningitis, while the VEEG had a specificity of 100% for the prediction of viral meningitis.
The outcome of intracranial subdural empyema at Steve Biko Academic Hospital : retrospective study
(University of Pretoria, 2013-01-15) Moja, Tshepo Peter; Mokgokong, M.S.; ekthobejane@gmail.com; Thobejane, Emmanuel Kgoro
Objectives: Intracranial subdural empyema (ICSDE) can be a devastating condition, with a sequelae ranging from epilepsy, focal deficits to death. Factors affecting the outcome in subdural empyema range from level of consciousness, the extend of subdural pus at the time of diagnosis and the type of surgical procedure performed. Previous studies have conflicting results of unfavourable prognostic factors associated with ICSDE. The outcome of this condition at Steve Biko Academic Hospital (SBAH) is reported, as well as factors influencing the outcome. Methods: A retrospective analysis of all the patients admitted at neurosurgery unit of SBAH during 2006 – 2010 period with confirmed subdural empyema on brain CT scan and at surgery. Data sheet was used to collect all clinical information from patients’ records. Glasgow Outcome Scale and Henk W. Mauser grading were used to report on the outcome. Results: A total of 34 patients (20 males and 14 females) with mean age of 16.1 years were admitted with a diagnosis of ICSDE. The common presenting features were headache (58.8%), fever and seizures (47.0% each). Over 61% of patients had hemiplegia at presentation. CT scan confirmed subdural collections with 70.6% over the convexity, 23.5% at the convexity and parafalx and only 5.9% had bilateral collections. Complicated paranasal sinusitis was the origin of infection in 82.3%, followed by meningitis with 8.8%. Burr hole washout was done in 52.9% of patients, while 38.2% had burr holes with drains in situ and 8.8% had craniotomy to evacuate the subdural pus. All the patients were given empiric triple antibiotic therapy. Streptococci species were the most cultured organisms in the 19 (56.0%) patients who had positive cultures, however 15 (44.0%) patients had negative cultures. Resistance to penicillin was noted in 5.0% of cases only. Sixty-five percent of patients had good outcome with no seizures nor neurological deficits. The overall mortality was 15.0% in this study, with none from patients who had craniotomy. Conclusion: Clinical presenting features and organisms cultured seems to be the same internationally, particularly those due to complicated sinusitis. Empiric triple antibiotic therapy of 3rd generation cephalosporin plus vancomycin plus metronidazole is still relevant at SBAH. Factors associated with favourable outcome were ages between 11 and 20 years, and craniotomy as the surgical procedure of choice.

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