Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male.

Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a challenge. We describe the case of a 15-year-old black African male who presented with abdominal distension, delayed growth and fatigue. Initial laboratory studies revealed severe anaemia (haemoglobin concentration 8 g/dL) and moderate thrombocytopenia (platelet count 80 × 109/L). A computed tomography scan of the abdomen showed an enlarged liver of 173 mm and massive splenomegaly of 27 mm. The diagnosis of GD was confirmed by reduced beta-glucocerebrosidase activity and heterozygous mutations in the GBA1 gene. The patient was managed at a dedicated paediatric haematology unit with enzyme replacement therapy and regular clinical, biochemical and radiological monitoring.

COVID­19 in pregnant women in South Africa: A retrospective review.

BACKGROUND: The majority of maternal deaths in South Africa (SA) occur as a result of non-pregnancy-related infections (NPRI). Pregnancy is a known risk factor in severe COVID­19, increasing the burden of NPRI in SA. In this study, we describe the prevalence, profile and clinical outcomes of pregnant women with COVID­19 admitted to a tertiary facility. OBJECTIVES: To describe the prevalence, profile and clinical outcomes of pregnant women with COVID­19 admitted to a tertiary facility in Gauteng, SA. METHODS: We performed a retrospective review of all pregnant women with COVID­19 admitted to Charlotte Maxeke Johannesburg Academic Hospital between 6 March and 30 August 2020. Data collected included demographics, medical history, obstetric history, clinical findings and laboratory variables. Outcomes assessed were mortality, admission to intensive care unit (ICU), symptomatic v. asymptomatic disease, maternal and fetal outcome and mode of delivery. RESULTS: A total of 204 pregnant women were included in the study. Of these, 33 (16.2%) women were critically ill, with 21 (10.3%) admitted to the ICU and 3 (1.5%) deaths related to COVID­19. The median gestational age was 37 weeks and median birthweight 2 940 g. Sixty-seven women (33%) were HIV-positive, in keeping with national statistics regarding HIV in pregnancy. Caesarean section was the most common mode of delivery (n=105, 60%). However, no women underwent caesarean section for indications related to COVID­19. CONCLUSION: COVID­19-related mortality in our cohort was higher than that seen internationally, likely due to differences in background maternal mortality rates and difficulty in accessing care.

A prospective observational study of developmental outcomes in survivors of neonatal hypoxic ischaemic encephalopathy in South Africa.

BACKGROUND: Neonatal hypoxic ischaemic encephalopathy (NHIE) is an important cause of long-term handicap in survivors. There is limited information on the burden of handicap from NHIE in sub-Saharan Africa. OBJECTIVES: To determine the developmental outcomes in survivors of NHIE in South Africa (SA). METHODS: In this prospective observational study, the developmental outcomes in 84 infants who had survived hypoxic ischaemic encephalopathy (the NHIE group) were compared with those in 64 unaffected infants (the control group). The Bayley Scales of Infant Development version III were used for assessment of developmental outcomes. RESULTS: Significant differences were found between the developmental outcomes of the two groups, with a significantly lower composite language score and higher proportions with language, motor and cognitive developmental delays in the NHIE group than in the control group. Cerebral palsy (CP) was present in 13 of the infants with NHIE (15.5%) and none in the control group (p<0.001). CP was associated with developmental delay, and also with the severity of NHIE. Therapeutic hypothermia (TH) was administered in 58.3% of the study group, but although it was associated with lower rates of CP and developmental delay than in the group without TH, the only significant difference was for delay on the language subscale. CONCLUSIONS: Survivors of NHIE in SA are at risk of poor developmental outcomes.

A review of antenatal corticosteroid use in premature neonates in a middle-income country.

BACKGROUND: Antenatal corticosteroid (ANS) use in premature neonates has become a standard of practice. However, there is low ANS coverage in low- to middle-income countries (LMICs). Recent studies have questioned the efficacy of ANSs in such countries. OBJECTIVE: To review the use of ANSs in preterm neonates at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH), South Africa. METHODS: This was a retrospective observational study of all neonates with a birth weight of 500 - 1 800 g born at CMJAH between 1 January 2013 and 30 June 2016. Neonatal and maternal characteristics of neonates exposed to ANSs were compared with those of neonates who were not exposed. RESULTS: The ANS coverage of the final sample was 930/2 109 (44.1%). The mean (standard deviation (SD)) birth weight was 1 292.4 (323.2) g and the mean gestational age 30.2 (2.9) weeks. Attending antenatal care and maternal hypertension were associated with increased use of ANSs, whereas vaginal delivery was associated with decreased use. In neonates weighing <1 500 g, the use of ANSs was associated with decreased mortality, decreased intraventricular haemorrhage and decreased patent ductus arteriosus. There was no association between ANSs and respiratory distress syndrome, necrotising enterocolitis, sepsis or need for respiratory support in all premature neonates, and no association with improved outcomes in those weighing ≥1 500 g. CONCLUSION: The benefits of ANSs in terms of neonatal morbidity in this study were not as marked as those published in high-income countries. A randomised controlled trial may be indicated in LMICs.