What is a syndrome? An epileptic disorder characterised by a cluster - - PowerPoint PPT Presentation

What is a syndrome?

An epileptic disorder characterised by a cluster of signs and symptoms customarily occurring together

Consistency? Haw many syndromes can a patient have? Disease? How many etiologies a syndrome could have? Boundaries? Which are the limits of a syndrome?

Generalized Seizures

• Myoclonic jerks
• Absence seizures (with few variants)
• Generalized Tonic-Clonic Seizures

Idiopathic Generalized Epilepsies

• Myoclonic Epilepsy in Infancy
• Generalized Epilepsies with Febrile Seizures Plus
• Epilepsy with Myoclonic Astatic Seizures
• Childhood Absence Epilepsy
• Epilepsy with Myoclonic Absences
• Idiopathic Generalized Epilepsies with Variable

Phenotypes Juvenile Absence Epilepsy Juvenile Myoclonic Epilepsy Epilepsy with Generalized Tonic-Clonic Seizures Only (J. ENGEL, 2001)

üNatural course of epileptic syndrome üImpact of seizures on quality of life üPercentage

• f

drug resistance in the different syndromes üConsistency of EEG epileptic activity with cognitive/ behavioral profile To treat? What to treat? How much treat?

Simple absence seizure

P.S. F. 12 years; Juvenile Absence Epilepsy

Neocortex

P4 -O2 C4-P4 T4-T6 Fp1-F3 P3 -O1 F3 -C3 C3-P3 Fz-Cz F8-T4 T6-O2 T3-T5 F7-T3 T5-O1 Cz-Pz 100 : V

1 sec

F4 -C4 Fp2-F4 100 : V

1 sec

Thalamus

Childhood Absence Epilepsy ( Petit Mal)

Age at onset . 2 - 8 yrs Variable frequency of seizures ( 3-4 to 40-50/ day) VPA, ESM, LTG: : effective in 50 - 90%

Childhood absence epilepsy prognosis

¡Drug refractoriness does not influence long- term prognosis ¡More than 90% of patients will remain seizure free after drug discontinuation ¡The vast majority of patients will achieve seizure freedom before the age of 20 years

Livingston et al, 1965; Headstrom & Olsson, 1991

Juvenile Myoclonic Epilepsy

¡ Idiopathic i.e. genetically determined epilepsy ¡ Polygenetic ¡ Age-related onset ¡ Generalised i.e. with a bilateral quasi-symmetric and synchronous ictogenesis ¡ Three possible seizure types ¡ Myoclonic (100% per definition) ¡ GTCS on awaking (most) ¡ Absences (minority) ¡ Onset with any of these types

EPILESSIE FOCALI IDIOPATICHE

CARATTERISTICHE GENERALI

• 22% delle epilessie in età pediatrica
• Sviluppo psicomotorio normale
• RM encefalo nella norma
• Epilessie

età-dipendenti con scomparsa delle crisi in età adolescenziale nella maggior parte dei casi FORME 1. Epilessia benigna dell’Infanzia con parossismi centro-temporali (Epilessia Rolandica) 2. Epilessia occipitale con crisi con segni autonomici (Sindrome di Panayiotopoulos) 3. Epilessia focale

• ccipitale

idiopatica (Gastaut)

EPILESSIE FOCALI IDIOPATICHE

Benign childhood partial seizures with focal EEG sharp-slow wave complexes may be a group of syndromes that are linked together due to a common, genetically determined, mild and reversible, functional derangement of the brain cortical maturational process that is called “benign childhood seizure susceptibility syndrome”. This is often clinically silent, manifested in more than 90 per cent with EEG sharp and slow waves with an age related-localization. In the remaining minority, there are infrequent partial seizures of which their symptoms also are localization and age-related and dependent. Panayiotopoulos P., Epileptic Syndromes in infancy, childhood and adolescence, Chapter 15, 2002

CARATTERISTICHE delle CRISI

• Segni

autonomici (pallore/rossore/cianosi, nausea, malessere, ipotonia) q Con vomito 72/93 (77.4%)

• Segni motori

q Deviazione del capo e/o degli occhi 68/93 (73%) q Convulsione coinvolgente un emilato 11/93 (11.8%) q Segni opercolari 10/93 (9.2%)

• Compromissione della coscienza 83/93 (89%)
• Sonno 65/93 (69.9%)
• Durata
• Risoluzione della crisi

SINDROME DI PANAYIOTOPOULOS

SINDROME DI PANAYIOTOPOULOS

PROGNOSI

• Nonostante la durata e la ricorrenza delle crisi, i

pazienti non presentano sequele a lungo termine

• Le

anomalie EEG non hanno significato prognostico

• Terapia: 59/93 pazienti in terapia AE, ma 34/59

continuavano a presentare crisi

• Remissione: 64/93 dopo un anno dalla prima crisi

Somministrazione di WISC-R dopo la prima crisi ( range 3- 79 mesi)

• QI nella norma per età (QIT 103, QIV 102, QIP 104)
• Differenze significative in alcune sottoscale

q Ragionamento aritmetico (p 0.04) q Comprensione (p 0.04) q Picture arrangement (p 0.05)

EPILESSIA BENIGNA CON PAROSSISMI CENTRO-TEMPORALI

• EPILESSIA ROLANDICA

CARATTERISTICHE GENERALI

• Età all’esordio: 75% tra i 4 ed i 10 anni
• Genere: prevalentemente maschi
• Prevalenza: 15% in assenza di febbre

SEMEIOLOGIA delle CRISI q Sintomi unilaterali facciali senso-motori (30%) q Sintomi oro-faringo-laringei (53%) q Afasia (40%) q Ipersalivazione (30%) Attenzione!! Non abbiamo la sintomatologia tipica delle crisi del lobo temporale

• Si

manifestano nel sonno NREM (addormentamento/risveglio)

• Durata: breve! (1-3 minuti)

EPILESSIA BENIGNA CON PAROSSISMI CENTRO-TEMPORALI

• EPILESSIA ROLANDICA

EPILESSIA BENIGNA CON PAROSSISMI CENTRO-TEMPORALI

• EPILESSIA ROLANDICA

PROGNOSI

• 10-20% dei pazienti presenta una singola crisi
• La maggior parte dei pazienti avrà meno di 10 crisi totali
• Remissione entro 2-4 anni dall’esordio ed entro l’età di 16 anni

Mellish LC, et al. Arch Dis Child 2015;100:62–67. doi:10.1136/archdischild-2013-304211

Figure 2 Factors rated as quite or very important influencing a no-treatment decision in rolandic epilepsy, expressed as percentage of respondents (data for Panayiotopoulos Syndrome very similar).