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

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). Although TH did not cause any side effects, it also did not improve the prognosis or quality of life of the patient. The decision whether to perform TH in neonates with congenital or genetic abnormalities remains challenging. Current exclusion criteria for TH should be re-evaluated to support clinicians in determining whether to include newborns with severe congenital abnormalities but favourable neurological prognosis, and conversely, to exclude those with congenital or suspected genetic syndromes associated with poor life expectancy and quality of life, in order to avoid futile interventions.