A healthy woman presented with an antepartum haemorrhage at 35/40 during a low-risk pregnancy with normal antenatal bloods and anomaly scan at 20/40 gestation. Following an abnormal ultrasound (USS), the baby was delivered by emergency C-section.
A male infant was born in good condition but admitted to the neonatal unit for monitoring. Examination revealed global hypotonia, a weak uncoordinated suck and absent Moro reflex. He had widened sagittal sutures and a large posterior fontanelle. The remainder of the examination was unremarkable. Abnormal bloods are shown in table 1 .
He was treated for suspected sepsis due to jaundice and temperature instability.
What are the causes for the abnormalities seen in figures 1–3 ?
What investigations should be considered?
What is the diagnosis?
How do we manage this condition?
What are the likely outcomes?
Questions Answers can be found on page 2
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Contributors HM and KP drafted the manuscript jointly.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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