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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.
Cranial USS was performed immediately (figure 1). Urgent MRI of the brain further characterised these abnormalities (figures 2–3).
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.
Patient consent for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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