Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy.

Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic and non-epileptic paroxysmal events in eight patients with Rett syndrome. Based on video analysis, myoclonic seizures were usually misdiagnosed as movement disorders and stereotypies; the events identified by parents as generalized tonic-clonic seizures included episodes of motor activity and breathing abnormality. Myoclonic seizures aggravated by inappropriate treatment were evident in four patients; hyperventilation and apnea during wakefulness were present in all patients, while central sleep apneas were present in one patient; sinus tachycardia and cardiac arrhythmias emerged in six patients; cortical myoclonus was disclosed in five patients. In Rett syndrome, video-polygraphy is essential in characterizing the clinical features of paroxysmal events, determining autonomic dysfunctions, documenting myoclonic motor phenomena, and evaluating the responses to the treatment of epilepsy.

Ictal video-polygraphic features of perioral myoclonia with absences.

There have been few case reports of perioral myoclonia with absences (POMA) because of the lack of video-polygraphic recordings clarifying the electroencephalogram (EEG)-electromyogram (EMG) correlations. We describe one of the first video-polygraphic studies of POMA in a patient who underwent repeated and prolonged split-screen video-polygraphic recordings. The ictal EEG showed generalized and irregular discharges of spikes or multiple spikes and slow waves, while two concomitant EMG patterns appeared: (1) a rhythmic enhancement of the orbicularis oris and masseter muscles on both sides with minimal asymmetry corresponding to perioral movements, and (2) a progressive increment in muscular tone in the mylohyoideus muscle corresponding to oroalimentary automatisms. Myoclonic jerks were inconstantly time-locked to the spike component of the spike-wave complex. The evidence of a complex pattern of activation of the facial muscles suggests that the involvement of subcortical central pattern generators, related to masticatory activity, through the disinhibitory effect of the spike-wave discharge is a possible pathophysiological mechanism underlying POMA.

Pathological gambling plus hypersexuality in restless legs syndrome: a new case.

Emerging clinical data indicate that dopaminergic agonists used to treat restless legs syndrome may be associated with dopamine dysregulation syndrome, particularly pathological gambling. We report a new case with pathological gambling plus hypersexuality and impotence in an old patient treated with a small dose (0.18 mg daily at bedtime) of pramipexole for restless legs syndrome for 5 months. The time relationship and the resolution upon discontinuation of dopaminergic agonists suggest a causative association. Our new case confirms that restless legs syndrome patients should be cautioned about potential dopamine dysregulation syndrome coinciding with dopaminergic agonists, as it can be reversed by drug withdrawal.

Central sleep apnoea in Rett syndrome.

Breathing disturbances in Rett syndrome were reported almost entirely during wakefulness, with normal respiration during sleep. We studied a case of a proven MECP2 mutation in a girl, whose videopolygraphic and polysomnographic monitoring suggested the evidence of central apnoeas not only during awake, but also during sleep. Apart from prevalent awake respiratory dysfunction, central apnoeas in Rett syndrome may be also present during sleep.

Myoclonic status misdiagnosed as movement disorders in Rett syndrome: a video-polygraphic study.

Myoclonic jerks and myoclonic status (MS) are sometimes difficult to distinguish clinically from movement disorders such as hand stereotypies, tremor, and dystonia in Rett syndrome. We describe a rare and complete video-polygraphic study of a girl with Rett syndrome (MECP2 mutation) and MS misdiagnosed as movement disorders and disclosed after video-polygraphic recordings. Corresponding to closely recurring activity of diffuse spike and polyspikes-wave-type paroxysms, rhythmic and, especially, arrhythmic myoclonias, usually asymmetrical and asynchronous, involving mainly right muscle deltoid and rarely followed by an inhibitory phenomenon, appeared. The MS improved and, most importantly, disappeared after the use of levetiracetam, with an evident antimyoclonic efficacy and a marked improvement of daily life for the patient and her caregivers. The difficulty in differentiating some typical nonepileptic behavioral features and movement disorders of patients with Rett syndrome from seizures was overcome using prolonged video-polygraphic recordings in our case.

Adult epileptic spasms: a clinical and video-polygraphic study.

PURPOSE: To analyse the video-polygraphic features of two patients with adult epileptic spasms (ES). METHODS: Two patients with epileptic encephalopathy related to different cortical malformation; epileptic spasms had been present since the age of 18 and 25 years respectively. The patients underwent a clinical and neurophysiological examination (awake and sleep video-polygraphic monitoring). RESULTS: In patient 1, epileptic spasms were characterized by loss of contact and a drooping forward of the head and upper extremities. ES were in clusters, of brief duration, lasting for 20'''-1''; all events occurred during eating. Awake and sleep interictal EEG disclosed asynchronous paroxysmal abnormalities in the temporo-parieto-occipital regions. The ictal EEG showed a diffuse slow wave complex with intermingled fast activity, prevalent on both anterior regions; on polygraphic recordings, the prevalence of the muscle activation, in crescendo-decrescendo, was in the neck and the right side. In patient 2, ES were characterized by loss of awareness, head deviation to the left, jerks of the head and left limbs. ES occurred in cluster, and were of brief duration (< 1"), usually on awakening. Interictal EEG showed epileptiform abnormalities in the right fronto-centro-temporal regions; abnormalities present in the awake EEG were enhanced during NREM sleep. The ictal EEG showed a diffuse, slow wave complex with intermingled fast activity, prevalent in the right regions, with concomitant muscle activation, in crescendo-decrescendo, on the left deltoid and tibialis anterior. CONCLUSIONS: Our two cases of adult ES were characterized by distinct clinical and polygraphic features, which were of brief duration, mild intensity, rare frequency per minute, and with preservation of cluster organization. In one patient, ES were induced by eating (reflex periodic spasms triggered by eating). A firm diagnosis of adult ES can be reached using video-polygraphic monitoring.