Background: We describe an infant with a
diagnosis of GM3 synthase deficiency, presenting with severe
neuroirritability from birth. He required multiple admissions due to extreme
agitation and caregiver burnout. Multiple pharmacological agents were tried,
and the effect of each medication was modest and short-lasting at best. The
literature on the management of neuroirritability in children with
progressive genetic and metabolic conditions is sparse, and a
neuroirritability management protocol has yet to be developed at our
institution. Methods: We searched for relevant
primary research and articles on PubMed. We reviewed the evidence of each
pharmacological agent and added non-pharmacological strategies. We developed
management guidelines for neuroirritability at our hospital. This protocol
was reviewed by several pediatric neurologists and pediatric palliative care
specialists at the Stollery and SickKids Hospitals.
Results: We present the Pediatric
Neuroirritability Management Protocol for the Stollery Children’s Hospital.
Conclusions: Further study is required to assess
whether this protocol can be adapted to treat irritability in the context of
other neurological conditions such as hypoxic-ischemic encephalopathy and
non-accidental injury. In addition, we will expand our guidelines to include
other symptoms such as spasticity, dystonia, and autonomic
dysfunction.
P.122 The Pediatric Neuroirritability Management Protocol at the Stollery
Children’s Hospital – Inspired by an Irritable Infant with GM3 Synthase
Deficiency
