To Do Or Not To Do: Therapeutic Hypothermia Treatment For An Infant With HIE And Prenatal Spinal Muscular Atrophy With Congenital Bone Fractures.

Abstract excerpt

Spinal muscular atrophy with congenital bone fractures is a rare, severe neuromuscular disorder with autosomal recessive inheritance, characterised by hypotonia, congenital contractures, and respiratory distress. We present the case of a newborn girl with a homozygous mutation in the ASCC1 gene, who was diagnosed with hypoxic-ischaemic encephalopathy after birth and underwent therapeutic hypothermia (TH)....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Carrier Proteins
• Share to Fractures, Bone
• Share to Hypoxia-Ischemia, Brain