Case report of sudden death in a child with Williams syndrome following administration of anaesthesia

Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of anaesthesia to these patients carries a higher risk for sudden death due to the cardiac defects. The purpose of this case study is to demonstrate the entity in the South African population, to review the literature, to put emphasis on the multi-disciplinary approach in the pre-operative management, and to review the medico-legal investigation of intra-operative deaths. Furthermore, administration of anaesthesia in the remote location and to syndromic children will also be discussed.Keywords: deletion of genes on chromosone 7q11.23, intra-operative deaths, sudden death, supravalvular aortic stenosis, Williams syndrom

Managing the Remains of Foetuses and Abandoned Infants – A Call to Urgently Review South African Law and Medico-legal Practice

This article reviews South African (SA) law and its impact on the medicolegal management of fetal remains emanating from elective and therapeutic termination of pregnancies, stillbirths and miscarriages and the remains of abandoned or exposed infants. It was found that remains are treated differently, some constituting medical waste while others have sufficient status in law to allow for burial. This approach results in some women or couples being denied a choice with regard to disposal via culturally relevant practices, and is insensitive to the fact that all remains ultimately constitute human remains. The article argues that SA law is in urgent need of reform, and turns to foreign law and forensic practice to shed light on possible alternative approaches that could assist with developing the SA position and thereby improve the practical management of fetal and infant remains in SA

Fatalities involving illicit drug use in Pretoria, South Africa, for the period 2003 - 2012

Background. Globally, illicit drugs are responsible for many fatalities annually, yet accurate data on the nature and extent of these deaths in South Africa (SA) are lacking.Objectives. To investigate the presence and profile of illicit drugs detected in deceased persons who were subjected to medicolegal autopsies and upon whom analyses were carried out in search of illicit drugs in their body fluids at the Pretoria Medico-Legal Laboratory (PMLL), SA, over a 10-year period.Methods. A retrospective descriptive case audit was conducted for the period 2003 - 2012.Results. Screening for illicit drugs was requested in 385 out of 22 566 medicolegal autopsies. Results were available for only 281 of these cases, with 154 cases showing the presence of one or more illicit drugs. The demographic profile of positive cases indicated the majority to be male (90.3%) and white (85.1%). Decedents who tested positive for illicit drugs were predominantly aged between 20 and 30 years (51.9%). The most frequently detected drug was heroin, the presence of which was confirmed in 35.2% of cases, followed by cocaine in 19.9%. Alcohol in combination with an illicit drug or drugs was detected in 56 cases (36.4%).Conclusions. Results from this study indicate that illicit drugs were implicated in a considerable number of fatalities in Pretoria. However, it is believed that the figures are a gross under-representation of the actual number of drug users who died during this period. It is therefore recommended that further research be conducted and that drug screening be requested routinely when unnatural deaths are investigated at medicolegal mortuaries, not only to ensure the administration of justice but also to obtain more accurate data for purposes of public health programmes and improve insight into the burden of illicit drug use in SA

Sharp force fatalities at the Pretoria Medico-Legal Laboratory, 2012-2013

BACKGROUND : South Africa’s crude death rate was recorded as the highest in the world in 2014. In 2013, 47 murders occurred daily nationwide, and it was confirmed that sharp force fatalities were frequent events. The aim of our study was to review the fatalities of persons admitted to the Pretoria Medico-Legal Laboratory over a two-year period. Understanding the magnitude of the problem, identifying the most commonly injured area and the mechanism of death in cases where the patient died in hospital could aid in the clinical management of some of these cases in order to reduce mortality. METHOD : A retrospective descriptive case audit was conducted at the Pretoria Medico-Legal Laboratory from January 2012 through to December 2013. RESULTS : A total of 173 applicable cases were included. These comprised 5% of the annual case load. Most of the injured persons were male (84%) and aged 21–30 years (50%). Only 27 (16%) decedents were hospitalised and 12 (44%) survived for ≥ 1 day. The most predominantly injured area on the body was the thoracic area (65% of cases). Positive alcohol concentration in the blood was reported in 109 (66%) cases (a range of 0.01 g/100ml to 0.35 g/100ml). Exsanguination was the leading mechanism of death (85% of cases). CONCLUSION : Compared with various international regions, an exceptionally higher percentage of these fatalities occur in Pretoria, South Africa. Most stab wounds penetrated the body’s thoracic region, consequently perforating the heart and lungs, resulting in immediate death. The proportion of hospital fatalities of patients who sustained abdominal and extremity injuries, and who had already survived ≥ 1 day, was a worrying finding into which further research is required. It is surprising that these patients mostly succumbed to blood loss.http://www.sajs.org.za/index.php/sajsam2016Forensic Medicin

Post-Mortem Echocardiography as a Guide to Cardiac Autopsy—A Worthwhile Concept?

Sudden and unexpected death in the young is a common and worldwide problem. Sudden, unexpected death in infancy (SUDI), clinically unexpected death in an infant between one week and one year of age, affects around 1 in 1000 infants. Autopsy will reveal a specific cause of death in only one third of cases. This has led to various ancillary examinations in an effort to increase the diagnostic yield of the autopsy

Subendocardial Fibrosis in Left Ventricular Hypertrabeculation-Cause or Consequence?

Left ventricular noncompaction has been classified as a primary cardiomyopathy with a genetic origin. This condition is morphologically characterized by a thickened, two-layered myocardium with numerous prominent trabeculations and deep, intertrabecular recesses. Recently, it has become clear that these pathological characteristics extend across a continuum with left ventricular hypertrabeculation at one end of the spectrum

Sudden and unexpected childhood deaths investigated at the Pretoria Medico-Legal Laboratory, South Africa, 2007 - 2011

Background. Sudden and unexpected death is well known to occur in infants, and although sudden deaths are less frequent after the first birthday, they still account for a significant proportion of childhood deaths. In 2009, 1.9% of the total deaths in the USA were childhood deaths. In South Africa (SA) this proportion was much higher at 11.85%. According to the law, sudden and unexpected deaths are generally investigated as unnatural deaths. Establishing an exact underlying anatomical cause of death will depend on available resources and can be difficult in a substantial proportion of cases.Methods. A retrospective descriptive case audit was conducted at the Pretoria Medico-Legal Laboratory (PMLL), SA, from 1 January 2007 through to 31 December 2011. All children aged 1 - 18 years who died suddenly and unexpectedly were included.Results. Ninety-eight cases were identified, which constituted nearly 1% of total admissions to the PMLL. The majority of the deaths were of children aged 1 - 5 years, and the male/female ratio was 1.04:1. In the largest proportion of cases (n=28, 28.6%), the medicolegal investigation, including autopsy and ancillary investigations, did not establish an underlying anatomical cause of death. In the cases where a cause of death was established, pneumonia was the most common diagnosis (n=22, 22.4%).Conclusions. The fact that the cause of the largest proportion of deaths could not be ascertained emphasises the need for consideration of additional investigative techniques, such as molecular/genetic screening, which have provided an underlying cause of death in a significant number of cases in other countries. There is a lack of published research on the causes and incidence of sudden unexpected deaths in children in SA, and further research in this area is needed

Practical tips to using formalin-fixed paraffin-embedded tissue archives for molecular diagnostics in a South African setting

BACKGROUND : Formalin-fixed paraffin-embedded (FFPE) tissue archives in hospitals, biobanks, and others offer a vast collection of extensive, readily available specimens for molecular testing. Unfortunately, the use of tissue samples for molecular diagnostic applications is challenging; thus, the forensic pathology FFPE tissue archives in Africa have been a largely unexploited genetic resource, with the usability of DNA obtainable from these samples being unknown. INTERVENTION : The study, conducted from January 2015 to August 2016, determined the usefulness of FFPE tissue as a reliable source of genetic material for successful post-mortem molecular applications and diagnostics. Formalin-fixed paraffin-embedded tissue samples were collected and archived from autopsies conducted over 13 years in the forensic medicine department of the University of Pretoria (Pretoria, South Africa). Deoxyribonucleic acid from FFPE tissue samples and control blood samples was amplified by high-resolution melt realtime polymerase chain reaction before sequencing. The procurement parameters and fixation times were compared with the quantity and quality of the extracted DNA and the efficiency of its subsequent molecular applications. LESSONS LEARNT : This study has shown that FFPE samples are still usable in molecular forensics, despite inadequate sample preparation, and offer immense value to forensic molecular diagnostics. RECOMMENDATIONS : FFPE samples fixed in formalin for more than 24 h should still be used in molecular diagnostics or research, as long as the primer design targets amplicons not exceeding 300 base pairs.The Genomics Research Institute (University of Pretoria) and the South African National Research Foundation.http://www.ajlmonline.orgam2023Chemical PathologyForensic Medicin

Fatalities involving illicit drug use in Pretoria, South Africa, for the period 2003 - 2012

Background. Globally, illicit drugs are responsible for many fatalities annually, yet accurate data on the nature and extent of these deaths in South Africa (SA) are lacking.Objectives. To investigate the presence and profile of illicit drugs detected in deceased persons who were subjected to medicolegal autopsies and upon whom analyses were carried out in search of illicit drugs in their body fluids at the Pretoria Medico-Legal Laboratory (PMLL), SA, over a 10-year period.Methods. A retrospective descriptive case audit was conducted for the period 2003 - 2012.Results. Screening for illicit drugs was requested in 385 out of 22 566 medicolegal autopsies. Results were available for only 281 of these cases, with 154 cases showing the presence of one or more illicit drugs. The demographic profile of positive cases indicated the majority to be male (90.3%) and white (85.1%). Decedents who tested positive for illicit drugs were predominantly aged between 20 and 30 years (51.9%). The most frequently detected drug was heroin, the presence of which was confirmed in 35.2% of cases, followed by cocaine in 19.9%. Alcohol in combination with an illicit drug or drugs was detected in 56 cases (36.4%).Conclusions. Results from this study indicate that illicit drugs were implicated in a considerable number of fatalities in Pretoria. However, it is believed that the figures are a gross under-representation of the actual number of drug users who died during this period. It is therefore recommended that further research be conducted and that drug screening be requested routinely when unnatural deaths are investigated at medicolegal mortuaries, not only to ensure the administration of justice but also to obtain more accurate data for purposes of public health programmes and improve insight into the burden of illicit drug use in SA

Sudden and unexpected childhood deaths investigated at the Pretoria Medico-Legal Laboratory, South Africa, 2007 - 2011

Background. Sudden and unexpected death is well known to occur in infants, and although sudden deaths are less frequent after the first birthday, they still account for a significant proportion of childhood deaths. In 2009, 1.9% of the total deaths in the USA were childhood deaths. In South Africa (SA) this proportion was much higher at 11.85%. According to the law, sudden and unexpected deaths are generally investigated as unnatural deaths. Establishing an exact underlying anatomical cause of death will depend on available resources and can be difficult in a substantial proportion of cases.Methods. A retrospective descriptive case audit was conducted at the Pretoria Medico-Legal Laboratory (PMLL), SA, from 1 January 2007 through to 31 December 2011. All children aged 1 - 18 years who died suddenly and unexpectedly were included.Results. Ninety-eight cases were identified, which constituted nearly 1% of total admissions to the PMLL. The majority of the deaths were of children aged 1 - 5 years, and the male/female ratio was 1.04:1. In the largest proportion of cases (n=28, 28.6%), the medicolegal investigation, including autopsy and ancillary investigations, did not establish an underlying anatomical cause of death. In the cases where a cause of death was established, pneumonia was the most common diagnosis (n=22, 22.4%).Conclusion. The fact that the cause of the largest proportion of deaths could not be ascertained emphasises the need for consideration of additional investigative techniques, such as molecular/genetic screening, which have provided an underlying cause of death in a significant number of cases in other countries. There is a lack of published research on the causes and incidence of sudden unexpected deaths in children in SA, and further research in this area is needed