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MPV17-related mitochondrial DNA depletion syndrome is a rare, lethal, autosomal recessive primary mitochondrial disorder characterised by infantile onset liver disease and neurological features, including hypotonia, developmental delay, failure to thrive and neuropathy. The aim of this study was to describe the presentation and clinical course of infants diagnosed with MPV17 neurohepatopathy, comparing those who were HIV-exposed on antiretroviral therapy (ART), including zidovudine and nevirapine to prevent perinatal HIV transmission, to infants who were not HIV exposed, using data from a multicentre MPV17 natural history study in South Africa. Between 2013 and 2024, 25 infants were diagnosed with MPV17 neurohepatopathy, 8 (32%) of whom were HIV-exposed and received ART at birth (7 received zidovudine), none were HIV-infected. Median birth weight was lower at 2.45 kg (IQR 2.28-2.71) in infants who were HIV-exposed compared to 2.86 kg (IQR 2.54-3.13) in HIV-unexposed infants (p = 0.02). Symptom onset occurred much earlier at a median of 3 days of age (IQR 0-10 days) in HIV-exposed infants compared to 60 days (IQR 14-90) in HIV-unexposed (p = 0.006). Infants exposed to HIV were more likely to develop liver failure (p = 0.02). Perinatal therapy with the nucleoside reverse transcriptase inhibitor zidovudine, a known mitochondrial toxin, was associated with accelerated clinical presentation and clinical course of MPV17 neurohepatopathy. Our findings suggest that less toxic antiretroviral therapy should be considered for perinatal HIV prophylaxis in HIV-exposed infants, particularly in our setting where there is a high carrier frequency of a single pathogenic MPV17 variant.

Background:Intraventricular haemorrhage (IVH) and periventricular leukomalacia (PVL) are major causes of mortality and morbidity in very low birth weight (VLBW) infants. The prevalence and risk factors for IVH and PVL vary between institutions.Objectives:To determine the prevalence of IVH and PVL in premature infants with a birth weight of <1 500 g at RMMCH. To compare the risk factors and characteristics for IVH and PVL.Method:This was a retrospective cross-sectional study of infants <1 500 g admitted between the 1stNovember 2018 and 31stOctober 2019 at RMMCH. Characteristics of infants with cranial ultrasound or MRI abnormalities were compared to infants with normal cranial imaging.Results:A total of 432 VLBW infants were screened for inclusion into the study, 30% (128/432) were excluded due to absence of cranial imaging, transfer to other hospitals or early death. The final sample size was 304 infants. IVH was present in 40% (n=122; 95% CI 34.6-45.7). Independent risk factors for IVH were patent ductus arteriosus (p=0.03), metabolic acidosis on the first arterial blood gas (p<0.001) and lack of antenatal booking (p=0.004). Severe IVH was present in 12% (n=37; 95% CI, 8.5-16) of infants. The rate of PVL was 0.3% (n=1; 95% CI 0-0.98).Conclusion:The prevalence of any IVH in VLBW infants at RMMCH is comparable to that of developing countries. Risk factors were like those described in other centers. Availability of MRI would assist in delineating the extent of PVL in VLBW infants at our centre.