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Background. Hypertensive disorders of pregnancy (HDP) are a major cause of maternal mortality and adverse outcomes. A previous study in the intensive care unit (ICU) at King Edward VIII Hospital, Durban, South Africa, in 2000 found 10.5% mortality among eclampsia patients. Objectives. To describe the mortality and adverse neurological outcomes associated with HDP in a tertiary ICU, compare these with results from 2000 and describe factors associated therewith. Methods. The data of 85 patients admitted with HDP to ICU at King Edward VIII Hospital from 2010 to 2013 were retrospectively reviewed. Mortality and adverse neurological outcome (Glasgow Coma Scale (GCS) ≤14 on discharge from ICU) were assessed. Two sets of analyses were conducted. The first compared those alive on discharge from ICU with those who died in ICU. The second compared good neurological outcome with poor outcome (adverse neurological outcome, or death). Results. The mortality was 11.6%, and overall, 9% had adverse neurological outcomes. There was no significant difference in mortality between patients with eclampsia in 2010 - 2013 (11.0%) and those in 2000 (10.5%) ( p =0.9). Factors associated with mortality were: intra- or postpartum onset of seizures; twins; failure to perform operative delivery when indicated; lowest GCS score

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2 mutations. Onset is most often in infancy, but in severe cases in the neonatal period. Patients typically have magnetic resonance imaging (MRI) signal abnormalities involving the thalamus, brainstem, and deep cerebral white matter. Most signal abnormalities resolve, but in severe cases at the expense of tissue loss. Here, we report a patient with an encephalopathy of antenatal onset. His early MRI at 8 months of age showed signal abnormalities in the deep cerebral white matter that improved over time. The thalami were absent with the configuration of a developmental anomaly, without evidence of a lesion. We hypothesized that this was a case of LTBL in which the thalamic damage occurred antenatally and was incorporated in the normal brain development. The diagnosis was confirmed by a novel homozygous EARS2 mutation. Our case adds to the phenotypic and genetic spectrum of LTBL.

Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leucoencephalopathies. The classical phenotype is characterised by early childhood onset of chronic neurological deterioration, dominated by cerebellar ataxia. VWM is unusual because of its clinically evident sensitivity to febrile infections, minor head trauma, and acute fright, which may cause rapid neurological deterioration and unexplained coma. Most patients die a few years after onset. The phenotypic variation is extremely wide, including antenatal onset and early demise and adult-onset, slowly progressive disease. MRI findings are diagnostic in almost all patients and are indicative of vanishing of the cerebral white matter. The basic defect of this striking disease resides in either one of the five subunits of eukaryotic translation initiation factor eIF2B. eIF2B is essential in all cells of the body for protein synthesis and its regulation under different stress conditions. Although the defect is in housekeeping genes, oligodendrocytes and astrocytes are predominantly affected, whereas other cell types are surprisingly spared. Recently, undue activation of the unfolded-protein response has emerged as important in the pathophysiology of VWM, but the selective vulnerability of glia for defects in eIF2B is poorly understood.