Giuseppe d'Orsi

Potential links between neurological disease and Tako-Tsubo cardiomyopathy: A literature review

Tako-Tsubo cardiomyopathy (TTC), is defined as a fully reversible acute deterioration of left-ventricular (LV) function, which is mainly found in women after an episode of emotional or physical stress (e.g. psychosocial stress, sepsis, surgery). The underlying mechanisms remain unclear. There is evidence suggesting a possible link between neurological disease and TTC. The pathophysiology of the several neurologic diseases has been reviewed searching for possible mechanisms that could lead to TTC in these patients.

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.

Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia

In2007,wedescribedtheclinicalandvideo-polygraphicfeaturesofa patient with reflex periodic spasms triggered by eating [d’Orsietal.,2007].Thepatientwasa30-year-old,right-handedmanwithsevereasphyxiaatbirthandsignificantintellectualdisability.Fromthe age of 25, he began to experience generalized tonic–clonicseizures,atonicdropattacksandeating-inducedrepetitiveepilepticspasmscharacterizedbysuddenheadandupperlimbsdropping.Inparticular, during the longer spasms (at least 1sec) the ictalpolygraphy showed a diffuse slow wave complex prevalent onanterior regions with an activation in crescendo-decrescendo onthe neck and the right sternocleidomastoideus muscles. Subse-quently, chromosome analysis, fluorescence in situ hybridization(FISH), and array comparative genomic hybridization (array-CGH) were performed. The array-CGH was carried out usingthe GenomeARRAY slide (TechnoGenetics Srl-Bouty Spa, Italy),containing 5,380 BAC clones, with a genomic resolution ofabout 0.5Mb, and increasing to 0.25Mb in the subtelomericregions. These studies revealed the presence of a partialtrisomy of chromosome 18 in the 18 q12.2q22.3 region (partialtrisomy 18q; see Fig. 1). The parents had normal karyotypes andarray-CGH.The relationship between chromosomal 18 anomalies and epi-lepsy was evaluated in a previous review [Grosso et al., 2005], andpartial seizures and focal EEG abnormalities were observed inpatients with 18 qDS, trisomy 18p and translocation betweenchromosome17and18.Epilepsyonsetinpatientscarryingtrisomy18p is usually during infancy, and focal seizures remitted in themajority. EEG pattern disclosed symmetric or asymmetric parox-ysmal activity in posterior regions associated with generalizedspikes and spike and waves, while brain MRI showed agenesis ofthe splenium and thin of corpus callosum.Toourknowledge,nopreviouscaseshavebeenreportedregardingthe relationship between partial trisomy 18q and epilepsy, andour patient expands the clinical spectrum and genomic character-izationoftrisomy18.Infact,fromaclinicalpointofviewageseizureonset (25 years) and seizure semiology (epileptic spasms inducedbyeating)differentiateourcasefromothersreportedintheliterature-[Grosso et al., 2005]. In addition, genetic testing based on array-CGH and FISH have revealed additional material on chromosome18, specificallya partialduplication of the longarm of chromosome18 (trisomy of 18q12.2q22.3 region), not previously associatedwith epileptic phenotype. Deletion of genes located in the distalportion of 18q seems to be important in conferring susceptibilityfor the clinical features, including epilepsy [Strathdee et al., 1995].Deletion of the long arm of the chromosome 18 is associated withepilepsy witha frequency ranging from 10% [Wilson et al., 1979] to31%[Strathdeeetal.,1995].Notablythepatientshavebeenreportedin the literature with partial duplication of the short arm of chro-mosome 18 and epilepsy, but no previous cases have been reported

Fear as nonconvulsive status epilepticus of frontal origin: EEG-SPECT correlation

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Epilepsy with auditory features: Long‐term outcome and predictors of terminal remission

– see front matter

Video-Polygraphy in Rett Syndrome

To assess the long‐term outcome of epilepsy with auditory features (EAF) and to identify the clinical predictors for prognosis.

The “voices” of Joan of Arc and epilepsy with auditory features

To the Editor: We read with great interest the article by Dolce et al.1 on Rett syndrome and epilepsy. In particular, the authors outline that epilepsy in Rett syndrome may easily be mistaken and a myriad of behaviors may be inappropriately classified as epileptic events. In fact, epileptic seizures, movement disorders, and breathing disturbances may be observed, and a correct differential diagnosis is mandatory for the management of Rett syndrome. Long-term videopolygraphic monitoring is a safe diagnostic tool that provides a high diagnostic yield rate and a direct adjustment of therapeutic management of patients with epilepsy and nonepileptic paroxysmal events. We recently2 evaluated eight Rett cases with epilepsy, underscoring the difficulty of differentiating movement disorders from seizures and emphasizing the usefulness of prolonged video-polygraphic recordings in studying patients with Rett syndrome. In our study, video-polygraphic recording disclosed epileptic seizures that had been misdiagnosed as nonepileptic events and vice versa. In particular, myoclonic seizures were either underestimated or misdiagnosed as movement disorders and stereotyped hand movements, whereas episodes of motor activity and breathing disturbances had been either identified by parents/caregivers or misdiagnosed as generalized tonic-clonic seizures. Moreover, the use of video-polygraphic monitoring was also essential for (1) characterizing autonomic dysfunction and breathing disturbances; (2) disclosing a correct differential diagnosis among myoclonus, myoclonic seizures, and nonepileptic paroxysmal events; and (3) evaluating the efficacy of antiepileptic drugs and potentially inappropriate treatments for myoclonic events. In light of the clinical and pathophysiological features of Rett syndrome, video-polygraphic recordings could be useful for a correct differential diagnosis between epileptic and nonepileptic paroxysmal events.