Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns

Abstract

Ion channel disorders (channelopathies) can affect any organ system in newborns before 2 months of life, including the skeletal muscle and central nervous system. Channelopathies in newborns can manifest as seizure disorders, which is a critical issue as early onset seizures can mimic the presentation of neurometabolic disorders. Seizures in channelopathies can either be focal or generalized, and range in severity from benign to epileptic encephalopathies that may lead to developmental regression and eventually premature death. The presenting symptoms of channelopathies are challenging for clinicians to decipher, such that an extensive diagnostic survey through a precise step-by-step process is vital. Early diagnosis of a newborn’s disease, either as a channelopathy or neurometabolic disorder, is important for the long-term neurodevelopment of the child.

Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review

“…Resting after exercise and eating meals high in carbohydrates, which stimulate insulin secretion and reduce serum potassium, are triggers. Quadriparesis, which normally spares the face and respiratory muscles, can occur in severe bouts, especially in very young children [ 17 , 18 ].…”

“…Brain MRI typically reveals bilateral hyperintensities in the thalamus and basal ganglia in newborns, which may recover over time [ 17 ]. But particular seizure types, like significant myoclonic seizures, and epileptic syndrome may point to a particular metabolic disorder [ 18 ].…”