Introduction: There is limited literature on chronic obstructive airway disease in the paediatric age group. Post-infectious bronchiolitis obliterans (PIBO) is a cause of obstructive airway disease children, with limited data in African children. Aim: To describe the clinical spectrum, aetiology, and disease progression of children with post-infectious bronchiolitis obliterans. Methodology: This is a cross sectional descriptive study included all patients aged 6 months to 15 years with PIBO attending a tertiary paediatric pulmonology service in Cape Town, South Africa over period of one year (November 2019 to October 2020). Results: Fifty-one patients with PIBO were enrolled, 78% were males, median age 60 months (IQR 33-107). The median age at disease presentation was 6 months (IQR 3-12), 80% initially presented with cough. Ninety-four percent of patients required hospital admission, 76% were admitted to ICU, 92% required supplemental oxygen therapy and 75% required ventilatory support. Reported cigarette smoke exposure was high (47%). Adenovirus was the most common cause of initial infection 59%. Lung hyperinflation (84%) and air trapping (78%) were the most common current chest radiographic findings; bronchiectasis in 45% of patients. Spirometry showed mixed (41.4%) or obstructive (27%) patterns, mean (SD) FEV1 z-score - 3.3(±1.4), FVC z-scores -2.4(±1.6) and FEV1/FVC z-score -3.1(±2.4). Corticosteroids were used during initial presentation in 92% of patients. Seventy six percent of patients required two or more hospital admissions. Cough (43%) and wheeze (39%) were the commonest reported current symptoms. Lung function impairment was associated with younger age at first presentation and recurrent hospital admissions. Children with higher BMI at presentation had higher FEV1/FVC z-score in later life. Improvement of symptoms over time was reported among 82% of patients. Conclusion: PIBO is a relatively common cause of chronic lung disease in South African children, with adenovirus being the commonest preceding illness. Symptoms of airway obstruction persist over time, but showed improvement with treatment, which included corticosteroids.

Introduction: Perinatal mortality is regarded as an indicator of the social status and obstetrical care within a given community. The developed world has witnessed a dramatic decline in perinatal mortality as standards of living improved. Unfortunately, this turn of events has not been seen in the Third World where mortality remains very high. When improved perinatal autopsy techniques are applied the causes of perinatal deaths are readily appreciated. No previous autopsy study has been conducted at our hospital. The application of new techniques has stimulated the present study, which is also intended to monitor current and future clinical practice. Problem formulation: What are the common causes of death in the perinatal period at Ga-Rankuwa Hospital? Aims of the study: a. To assess the common causes of fetal and neonatal deaths at our hospital. b. To determine those causes which are preventable and propose specific obstetric interventions. c. To obtain a baseline for future studies along the same line. d. To lay a foundation for clinicopathologic discussion with clinical colleagues. Research Methodology: An autopsy study is to be conducted on each and every stillbirth and neonatal death that occurs during the period of study. The technique will be discussed in detail in Chapter 3.

Includes bibliography. / Between 1985 and 2000, 43 children (age range 6 months-13 years) underwent liver transplantation at Red Cross Children's Hospital. In 46% of these cases, viral infections resulted in considerable morbidity and mortality. Included in this group were: de novo hepatitis B (5 patients, 2 deaths), EBV-related post-transplantation lymphoproliferative disease (6 patients, 4 deaths) and CMV disease (9 patients, 4 deaths).

Includes bibliographical references (leaves 76-82). / The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-average to severe intellectual disability, they have consistently found the average full-scale IQ of affected boys to be reduced by approximately one standard deviation. Fewer reports are available for DMD boys in the pre-school age group. There is also limited data on the behavioural profile of boys with this condition. No material on these aspects of DMD in South African children has been published to date. This pilot case control study aimed to determine the neurocognitive and behavioural phenotype of a cohort of South African children with a confirmed diagnosis of Duchenne muscular dystrophy as compared to the profile of a matched control cohort of children.

Background: Anorectal malformations (ARMs) are a major birth anomaly worldwide. South Africa has ethnically and geologically diverse populations. A recent publication indicated an increased birth prevalence of ARMs in the Witwatersrand referral area between 2005 and 2010. The purpose of this study was to determine the birth prevalence of ARM and its various sub - types in the Western Cape referral district over an 8 year period Methods: For an eight year period from 01 January 2005 to 31 December 2012; retrospective data was collected from the Paediatric Surgical Departments of Red Cross War Memorial Children's Hospital, Tygerberg Children's Hospital as well as the private sector health registries. The number of live births per year for a specific municipal district was obtained from the National Department of Health. The Chi square for trend test was used to determine statistical significance. Results: The birth prevalence for ARM in the Western Cape Province in 2012 was shown to be 1:5572 live births (1.79/10 000 live births). The West Coast Municipality district had the highest average birth prevalence rate of 1:3063 (3 .26/10 000) live births for years studied. There was a male predominance (1.6:1), the most common ARM was the vestibular fistula (19.2%) and in 26% of the patients there was an initial delay in the diagnosis. Conclusion: This study has provided some recent data for ARMs for the Western Cape Province. There was no statistical significant change in the prevalence of ARMs over the eight year period for the Western Cape Province as well as in any of the individual six municipal health districts. ( χ2 for trend p=0.52) . The number of delayed diagnosis of ARM is of concern.

Includes bibliographical references (leaves 63-70). / Tuberous sclerosis complex (TSC) is a genetically inherited condition that manifests with benign non-invasive tumours or hamartomas in multiple organ systems. The condition is of autosomal dominant inheritance with an estimated incidence of 1 in 6000 live births. Population based studies estimate the prevalence of TSC to be 1 per 14, 492 population. TSC has myriad presentations but 80 to 90% of these children have seizure disorders. The prevalence of learning disabilities in children with TSC ranges from 38% to 80%. Pervasive developmental disorders (PDD) and attention deficit hyperactivity disorder have been identified in half of the children with TSC. Cutaneous manifestations occur in more than 90% of TSC patients. Cortical tubers, cardiac rhabdomyomas and renal angiomyolipomas are other lesions associated with TSC in children. Currently TSC has no cure and associated complications manifest with advancing age. Parents are faced with the challenge of life long care for these children. Half of the parents of children with TSC suffer significant psychological stress. Child specific factors, health literacy, and social stability are some factors known to impact on parental understanding of a child's chronic illness. Data specific to parental understanding of TSC are limited. Methodology: A retrospective case note review was performed to obtain the patient demographic and clinical presentation data. A prospective observational study provided the parental background characteristics and information on their understanding of TSC. Results: A total of 31 patient case notes were included in the review. The median patient age at the time of data was 132 months (IQR 96.00). The male: female ratio was 4:1. Seizures were observed in 27 patients (87.1%). Infantile spasms were reported in 3 (9.6%) patients while partial seizures occurred in 11 (35.5%) patients. More than one anticonvulsant was required in 15 (48.4%) of the 27 patients with seizures. Fourteen (53.8%) had global developmental delay. Two children (6.4%) were both hyperactive and aggressive and six (19.3%) were considered hyperactive. Aggressive behaviour was observed in four (12.9%) other children. Parents of 21 patients gave consent to participate in the study. The median parental age was 38 years (IQR 10.5). Seven parents (33.3%) had attained a primary level of education. Secondary education was attained by ten parents (47.6%) and three (14.3%) had received tertiary education. A statistically significant difference, p value =0.001, was observed in the change in the level of knowledge on comparison between the parent group that received a leaflet and the one that did not. A parental level of education of grade 8 was associated with a significantly higher baseline knowledge score (p value = 0.045) and a significantly greater change in the level of knowledge score (p value = 0.003). No association was detected between a parent's duration of clinic attendance and the baseline level of knowledge (p value = 0.63) There was no association between a parents baseline level of knowledge and their assessment of the impact of TSC on their child. (p value = 0.61). Conclusions and recommendations: The clinical profile of the cohort of children seen at the Red Cross Children's Hospital is similar to that of other cohorts described in literature. Parental understanding of TSC can be improved by provision of written information for those with at least a grade eight level of education. The information leaflet used in this study can be used to educate parents of children with TSC.

Study rationale: Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory myopathy of childhood with an incidence of 1.9-3.2 per million. The aetiology of JDM is uncertain but may result from immune dysregulation triggered by environmental factors in genetically susceptible children. The demographic and clinical characteristics of JDM may thus differ by race and geographic regions. Few studies have described the characteristics of JDM patients from Africa. There is need for further studies for better understanding of the epidemiology, clinical characteristics and outcome of patients with JDM from the continent. Methods: We conducted a retrospective observational study to determine clinical characteristics and outcomes of patients satisfying the Bohan and Peter criteria for probable JDM seen between 2004-2013 in Red Cross, Groote Schuur and Tygerberg hospitals in Cape Town. Data was analyzed using R version 3.1.0 (2014-04-10). Results: Twenty-five cases were identified: 16 female and 9 male. Thirteen (52%) of the cases were of indigenous African, eleven (44%) mixed and one (4%) European ancestry. The median ages at disease onset and diagnosis were 6.75 (range 2.0-9.7) and 7.9 (range 3.4-9.75) years respectively. Muscle weakness and characteristic cutaneous manifestations occurred in all the 25 patients while 24 had elevated muscle enzymes. All the patients received corticosteroids, seventeen (73.9%) received methotrexate and four received rituximab. Eleven patients had calcinosis during the disease course [median follow up period of 50 (range 0.5-159) months]. The mortality was 2/25 (8%) while only 40% of the patients had clinically inactive disease by PRINTO criteria. There was no difference in racial distribution (p-value = 1), age at disease onset (p-value = 0.87) and disease duration prior to treatment initiation (p -value = 0.75) between patients who had clinically active and inactive disease. Discussion: The demographic characteristics of children with JDM were similar to that from most other regions of the world with female predominance and similar age at onset. The median delay in diagnosis (4 months) was not longer than that reported in most other studies. However, some children had prolonged delay of up to 7 years due to misdiagnosis that denied them appropriate treatment in a timely manner. Majority (60%) of the patients also remained with clinically active disease, which put them at risk of further disease complications including calcinosis. Even though the mortality rate was low (8%) this was still more than double that reported in most recent large studies especially from the resource rich countries. Conclusions: Long-term follow up of JDM patients is advisable since majority of patients seem to have clinically active disease many years after disease onset despite treatment. Formulation and use of appropriate treatment guidelines and protocols may aid in the early diagnosis and appropriate management for optimum outcomes.

Includes synopsis. / Incldues bibliographical references (p. 195-220). / Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De humani corporis fabrica' in 1543.(4) Over the last two centuries an explosion in knowledge in the area has occurred, with a further exponential increase in the last 20 years mostly related to understandings in the field of molecular genetics.(5) Although some degree of diagnostic closure was possible for a number of the hereditary peripheral neuropathies, this has not been the end point of knowledge but only the beginning.

Includes bibliographical references. / Secondary insults in severe traumatic brain injury (TBI) may worsen outcome; however, these are poorly characterized in children. For example, despite the known association between intracranial pressure (ICP) and poor outcome, there are few large paediatric series on the subject, definitions vary, functional outcome is often not assessed, and the best measures to assess ICP for statistical analysis are unknown. We aimed to document the frequency of secondary insults, and the association of various ICP measures, with outcome in a large cohort of paediatric patients with severe TBI. A retrospective analysis of 5-year prospectively collected data was examined for the frequency of hypoxia, hypotension, raised ICP, and low cerebral perfusion pressure (CPP). ICP parameters included initial ICP, mean ICP in the first 24 hours, mean ICP overall, peak ICP, mean ICP over 20 mmHg, and episodes of ICP over 20 mmHg. Hypotension was defined by age †and height †adjusted mean arterial pressure ranges, and hypoxia was defined as arterial partial pressure of oxygen (PaO2) less than 8kPa or pulse oximetry less than 90%. We examined for univariate and multivariate associations with mortality and the Extended Paediatric Glasgow Outcome Score.

Background: Crescentic glomerulonephritis represents the extreme end on the spectrum of glomerular injury. It can result from a wide range of disease conditions and clinically is marked by a rapid deterioration in renal function over days, weeks or months. Although rare, crescentic glomerulonephritis is an important entity to recognize because prompt treatment can improve patient outcomes significantly. Literature on the prevalence, clinical presentation, aetiology and outcome of histologically proven crescentic glomerulonephritis among children, in Africa, is scanty. Most of what is known about this entity is extrapolated from adult studies and from paediatric studies that have for the most part been conducted outside the African continent. Objective: This study was conducted in order to determine the incidence, clinical presentation, aetiology and outcome of histologically proven crescentic glomerulonephritis in children presenting to the Red Cross Children's Hospital, Cape Town, South Africa. Methods: This was a retrospective folder review in which the renal biopsy records of children less than 18 years old who had had native kidney biopsies performed between 2004 and July 2015 at the Red Cross Children's Hospital were reviewed. The clinical notes of patients found to have been diagnosed with crescentic glomerulonephritis were traced so as to extract demographic and clinical information which was then recorded onto the study data sheet. No attempt to contact patients or their families was made. Data analysis with regard to the incidence, the clinical features and the outcome of crescentic glomerulonephritis was done using SPSS version 22. Results: A total of 470 native kidney biopsies were performed in the period under review. Of these, 24 had crescentic glomerulonephritis, accounting for an incidence of 5.1 %. The sub-types of crescentic glomerulonephritis were immune-complex in 19 (80%), Pauci-immune in 2 (8 %), unspecified type in 3 (12 %) and no child had the anti-glomerular basement membrane subtype. The underlying aetiology of the immune complex sub-type was post-infectious in 11(57.9%), idiopathic in 4(21%), HSP/IgA nephropathy in 2 (10.5%), SLE in 1 (5.3%) and mesangiocapillary glomerulonephritis in 1(5.3%). Fourteen of the subjects were male thus giving a male to female ratio of 1.4 while the mean age of the children was 8.3 [range- 1 to 14 years]. The commonest clinical features were hypertension (90%), nephrotic range proteinuria (80%), macroscopic haematuria (57%), oedema (94%) and anaemia (88%). None of these had a statistically significant association to the renal outcome. Ten (77%) out of the 13 children with crescentic glomerulonephritis who were followed up for more than a year were found to have either died, had residual renal dysfunction or been transplanted at the last clinical contact. Conclusion: Crescentic glomerulonephritis was diagnosed in 5.1% of paediatric native renal biopsies which is consistent with what has been reported elsewhere. Unlike reports from other geographical areas the vast majority (80%) of the cases had immune-complex glomerulonephritis with a suspected post-infectious aetiology in over half of these. Similar to earlier reports from South Africa the outcome was poor in most (77%) of the patients. Further research is required to characterise the factors that make post-infectious glomerulonephritis particularly severe in this population.