Myoclonus epilepsy with ragged-red fibers
Jun. 10, 2021
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This article includes discussion of epileptic spasms and infantile spasms. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.
Epileptic spasms are a peculiar seizure-type that usually manifest in infants as West syndrome. These seizures characteristically occur in daily clusters upon awakening, and individual spasms typically manifest with a brief axial contraction (ie, head-drop), with simultaneous extension of the arms, and intermixed limbic phenomena, such as fear and crying. Epileptic spasms are often accompanied by severely abnormal interictal epileptiform patterns, such as hypsarrhythmia, and they demand prompt diagnosis and treatment given the potential for enduring intellectual harm as a result of inadequate or late treatment. The author details contemporary treatment protocols.
• Video-EEG is critical to confirm epileptic spasms and distinguish it from mimics.
• Prompt diagnosis of epileptic spasms is essential as delays in treatment are associated with treatment failure and diminished long-term neurodevelopmental outcomes.
• Epileptic spasms may be exacerbated by traditional antiseizure drugs that target voltage-gated sodium channels (eg, carbamazepine, oxcarbazepine).
Having observed epileptic spasms in his own son, Dr. William West first provided a terrifying account of the phenomena in an 1841 letter to the editor of The Lancet (40). Accordingly, West syndrome has come to denote the triad of epileptic spasms, intellectual impairment, and hypsarrhythmia—the classic interictal electroencephalography (EEG) pattern often accompanying epileptic spasms (15). As it pertains to epileptic spasms, nomenclature continues to be a challenge. A great variety of terms have been used to describe epileptic spasms, including salaam convulsions, komplimentierkrämpfe, spasmes salutatoires, lightning major seizures, startle seizures, and others (34). The conceptualization of West syndrome is problematic because a principle goal of care is the prevention of intellectual disability, and epileptic spasms often occur without hypsarrhythmia. Furthermore, although the most popular contemporary descriptor is infantile spasms, “epileptic spasms” is the favored descriptor because this seizure type can be present in infants, as well as in older children, and, occasionally, in adults (03).
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