Vidéo
Illustrations
Figure 1
(A, B) Interictal EEG during sleep shows sporadic isolated spikes in the vertex region and both right and left centro-parietal regions, often related to single myoclonic jerks of the lower limbs (A) or upper limbs (B), asynchronous on the two sides. (C, D) Back-averaging of 30 different myoclonic events (trigger channel R-flex and L-flex, respectively): note that in both cases, there is evidence of agonist muscle co-contraction, followed by a contralateral myoclonic event (probably due to a propagation of the discharge); the myoclonic event is preceded by a positive transient discharge maximal on the central vertex and central region in the hemisphere contralateral to the earliest myoclonic potential. EMG abbreviations: R-delt: right deltoideus; R-ext: right extensor carpi; R-flex: right flexor carpi; R-quad: right quadriceps femoris; L-delt: left deltoideus; L-ext: left extensor carpi; L-flex: left flexor carpi; L-quad: left quadriceps femoris.
Figure 1
Figure 2
Ictal polygraphic recording during diaper changing (upper panel and lower panel are consecutive): the seizure starts with paroxysmal low-voltage rhythmic theta activity in the left centro-parietal and vertex regions (arrows), followed by generalized delta activity and a series of spasms, characterized by high-voltage slow complexes related to EMG periodic contractions of the four limbs (arrowheads). Note that the muscular contractions are characterized by an abrupt onset, which corresponds clinically to a “myoclonic” component (see video ). The first spasms coincide with a tonic contraction lasting for 7-8 seconds (from the first arrowhead in the upper panel to the first three seconds of the lower panel). In the lower panel, between the second and third spasm, there is a sequence of focal spikes involving the vertex and left centro-parietal regions, each related to a myoclonic jerk of the right limbs (black asterisks). R-delt: right deltoideus; R-quad: right quadriceps femoris; L-delt: left deltoideus; L-quad: left quadriceps femoris.
Figure 2
Auteurs
1 Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona
2 Laboratory of Neurogenetics, Pediatric Neurology Unit, Children's Hospital A. Meyer, Florence, Italy
* Correspondence: Roberta Solazzi
Child Neuropsychiatry,
University of Verona,
Pzz.le A. Stefani 1,
37126, Verona, Italy
Mutations in the CDKL5 (cyclin-dependent kinase-like-5) gene are known to determine early-onset drug resistant epilepsies and severe cognitive impairment with absent language, hand stereotypies, and deceleration of head growth. Reflex seizures are epileptic events triggered by specific stimuli and diaper changing is a very rare triggering event, previously described in individual cases of both focal and unclassified epilepsy, as well as in Dravet syndrome. Our aim was to describe diaper changing-induced reflex seizures as one of the presenting features in a case of CDKL5-related epilepsy, providing video-EEG documentation and focusing discussion on hyperexcitability determined by the disease. [Published with video sequence on www.epilepticdisorders.com ]