In this report, we describe a female @entity1 with trisomy 4p, a rare @entity74 , with unusual @entity410 semiology. The @entity1 is one of the oldest reported survivors with this condition. This semiology was noted while she was being monitored by inpatient video telemetry. We observed a series of @entity2045 jerks, followed by @entity11637 , and finally an atonic head drop. Corresponding ictal EEG showed semi-rhythmic high-amplitude slow waves with spikes superimposed over the frontotemporal areas. This semiology was confirmed as habitual by her parents. Subsequent @entity11637 had no EEG correlate, and the head drop was again associated with semi-rhythmic high-amplitude slow waves and superimposed spikes, more prominent over the right hemisphere. In addition, we review the several cases in which @entity11637 have been associated with @entity410 and how this may relate to the neural pathways involved in the pathophysiology of @entity11637 . We believe the @entity11637 followed by atonia to be a @entity410 semiology that has not previously been documented. [Published with video sequence].

Diaphragm @entity2045 followed by generalised atonia in a XXXX with trisomy 4p: unusual semiology in an unusual condition.

@entity1 :: ('9606', 'Species') :: ['patient'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizure', 'seizures'] @entity2045 :: ('MESH:D009207', 'Disease') :: ['myoclonic shoulder'] @entity11637 :: ('MESH:D006606', 'Disease') :: ['hiccup-like episodes', 'ictal hiccup-like episodes', 'hiccups'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic condition']
@entity1 :: (9606,Species) :: ['patient']
