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Δευτέρα 28 Νοεμβρίου 2016

Why so blue? A case of neonatal cyanosis due to congenital methaemoglobinaemia (HbM Iwate)

Description

A 2.18 kg male baby was born by elective caesarean section at 34+3 weeks to a primiparous mother with autosomal dominant congenital methaemoglobinaemia (HbM Iwate) and gestational diabetes. Having been asymptomatic throughout her life, she developed significant respiratory symptoms in the third trimester, possibly due to a superimposed acquired methaemoglobinaemia, which necessitated hospitalisation, red cell exchange and early delivery of her infant.

At birth, the baby remained cyanosed despite good respiratory effort, and congenital methaemoglobinaemia was presumed. However, he quickly developed moderate respiratory distress (presumably unrelated) and was managed with facial continuous positive airway pressure (CPAP) in the delivery room, demonstrating maximal preductal saturations of 73% in 100% oxygen.

In the neonatal unit, he was started on nasal high-flow therapy. Urgent echocardiography excluded heart disease, and chest X-ray was unremarkable. Saturation monitoring was deemed unreliable; therefore, respiratory support was weaned (and stopped within 48 hours) based on regular normal capillary...



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