Neonatal Research Priority Setting Partnership: help wanted

Katie Evans
Neonatal Research Priority Setting Partnership Project Co-ordinator and Clinical Research Fellow in Neonatal Medicine at Chelsea and Westminster Hospital
katie.evans7@nhs.net

Chris Gale
Academic Neonatologist and Neonatal Society Meeting Secretary

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Keywords

bone marrow failure; pancytopenia; Shwachman-Diamond syndrome; EFL1; trio exome sequencing

Key points

Standard antenatal genetic testing does not exclude a molecular diagnosis of SDS.
Consider SDS in neonates with pancyto-penia and possible skeletal dysplasia.

Also published in Infant:

VOLUME 7/ISSUE 5, SEPTEMBER 2011

Hereditary folate malabsorption: effect of systemic folate supplements on myelination

Folate deficiency is a rare but important cause of macrocytic anaemia in infancy. This article describes folate deficiency in a four-month-old male infant who presented with non-specific symptoms, but was found to have megaloblastic anaemia with very low serum folate due to congenital folate malabsorption. The critical role of folic acid in brain development is highlighted.