Birth-related syndromes of athetosis and kernicterus

Abstract

"Athetosis," from the Greek athetos, meaning "without fixed position," is a movement disorder first described by Hammond in 1871. The term described slow, irregular continual movements of the distal extremities. In 1983, Foley defined the athetoid syndrome as "a nonprogressive but evolving disorder due to damage to the basal ganglia of the full-term brain … [with] impairment of postural reflexes, arrhythmical involuntary movements, and dysarthria, [but] sparing … sensation, ocular movements and … intelligence." A decade later, "athetoid syndrome" was replaced by "dyskinetic cerebral palsy." Injury to basal ganglia by various mechanisms, including asphyxia, trauma, perinatal strokes, and kernicterus, is known to cause birth-related athetosis. Kernicterus originally described the neuropathology of bilirubin-induced brain injury, where the deep nuclei of the brain stain yellow. Kernicterus now describes the clinical features of chronic bilirubin encephalopathy, which include an extrapyramidal movement disorder, sensorineural hearing loss, impaired upward gaze, and dental enamel dysplasia. Aggressive treatment of perinatal hyperbilirubinemia has led to a decline in kernicterus so that, today, it is a rare cause of dyskinetic cerebral palsy. In this chapter, we provide a historic overview of athetosis and its formerly common cause, kernicterus. We relate earlier terminology to more recent definitions of impairments in dyskinetic cerebral palsy, including dystonia, chorea, and choreoathetosis.