Bullous eruptions in transient abnormal myelopoiesis with normal phenotype.

Cutaneous lesions are common manifestation of congenital leukaemia especially myeloid type with incidence of 25%-50% in reported cases. It is relatively rare in transient abnormal myelopoiesis (TAM) seen in trisomy 21 (~10%). The rashes seen in leukaemia and TAM are different. We report a case with a rare presentation of confluent bullous eruption in a phenotypically normal neonate with trisomy 21 restricted to haematopoietic blast cells. This rash resolved rapidly after low-dose cytarabine therapy with normalisation of total white cell counts. The risk of Down syndrome-associated myeloid leukaemia in such cases is still high (19%-23%) in first 5 years and rare thereafter.

Growth and risk of adverse neuro-developmental outcome in infants with congenital heart disease: A systematic review.

AIM: Congenital heart disease (CHD) is one of the most common birth defects affecting around 1:100 infants. In this systematic review, we aimed to determine impact of growth on neurodevelopmental outcomes of infants with CHD. METHODS: Studies that reported association of growth with developmental outcomes in infants with CHD who had surgery, were included. The search strategy was prospectively registered. Relevant studies were identified by electronic searches. The Cochrane Central Register of Controlled Trials, MEDLINE and EMBASE were searched from their earliest date to February 2022. RESULTS: Twenty studies met inclusion criteria. Choice of growth measures, developmental assessment tools and timing of assessment varied widely precluding conduct of a meta-analysis. Seventeen studies reported on infants who had cardio-pulmonary bypass. Birth weight was reported in thirteen studies and was associated with adverse outcome in nine. Head circumference at birth and later predicted developmental outcomes in five. Impaired postnatal growth was associated with adverse developmental outcome in seven studies. CONCLUSION: Growth in infants with congenital heart disease, specifically single ventricle physiology can predict adverse neurodevelopmental outcome. Included studies showed significant clinical heterogeneity. Uniformity should be agreed by various data registries with routine prospective collection of growth and developmental data.

Growth and risk of adverse neurodevelopmental outcome in infants with congenital surgical anomalies: a systematic review.

Survival of infants with congenital anomalies requiring surgical correction has increased dramatically, shifting the focus of clinical care and research toward optimising growth and neurodevelopment.To determine the impact of growth on neurodevelopmental outcomes of infants with congenital surgical anomalies. Studies that reported association of growth with developmental outcomes in infants with congenital anomalies who had surgery, were eligible for inclusion. The search strategy was prospectively drafted, and relevant studies were identified by electronic searches. The Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library 2022, issue 1), MEDLINE and EMBASE from their earliest date to February 2022 were searched. Seven studies met the inclusion criteria. Variability in selection of growth measures, developmental assessment tools and assessment endpoints for neurodevelopment, precluded a meta-analysis. Four studies reported the association between growth and neurodevelopmental outcomes in infants with gastroschisis with two noting adverse outcomes in infants who were small for gestational age. Birthweight, reported in four studies, was not associated with adverse developmental outcomes. Postnatal growth, reported in three studies, was associated with adverse outcome. The data linking growth restriction in infants with congenital surgical anomalies and neurodevelopmental outcome is limited. There is limited published research examining the longitudinal effects of intra- and extra-uterine growth parameters on neurodevelopmental outcomes.

Outcomes for infants with congenital diaphragmatic hernia: A single campus review with low extracorporeal membrane oxygenation utilisation.

AIM: To report the outcome for infants with congenital diaphragmatic hernia (CDH) and identify clinical factors affecting outcome from a tertiary perinatal surgical campus where extracorporeal membrane oxygenation (ECMO) is available however rarely utilised. METHODS: A retrospective cohort study of infants with CDH born in a co-located perinatal neonatal intensive care unit (NICU) or retrieved into and managed at a surgical NICU: 2003-2018. RESULTS: One hundred and fifty-nine infants with CDH were identified. One hundred and twenty were born in the co-located hospital and 39 retrieved from outlying hospitals. Survival of all patients with CDH was 74.8%; The survival for all isolated left CDH was 89% and the survival of post-surgery was 93%. Two patients went onto ECMO and both died. Associated major congenital anomalies were seen in 13.2%. Low birthweight (< 2500 g), 5-min Apgar <5, antenatal diagnosis, right-sided diaphragmatic hernia, herniation of the liver, associated major congenital anomalies, high oxygenation index (>25) on day 1, inotrope use, inhaled nitric oxide and need for high-frequency ventilation were associated with increased mortality on univariate analysis. Neurodevelopmental follow-up was commenced in 2013. Forty-three infants were discharged and developmental data were available for 36 at 4 months (83%) and 32 at 1 year (73%). Outcomes revealed normal motor scores and expressive language with mild delay in the receptive language at 1 year. CONCLUSION: Despite the low use of ECMO, our centre's results reveal excellent survival and neurodevelopmental outcomes consistent with or better than international data.