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Syndromic Diagnosis and Interictal Correlation of Epilepsies Dr.Ashraf.V.V Consultant Neurologist MIMS Hospital, Calicut.

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Presentation on theme: "Syndromic Diagnosis and Interictal Correlation of Epilepsies Dr.Ashraf.V.V Consultant Neurologist MIMS Hospital, Calicut."— Presentation transcript:

1 Syndromic Diagnosis and Interictal Correlation of Epilepsies Dr.Ashraf.V.V Consultant Neurologist MIMS Hospital, Calicut

2 2 Electro-clinical Syndrome Group of clinical entities that are reliably identified by a cluster of electro-clinical and developmental characteristics Largely genetic in origin Tend to have a strong relationship to developmental aspects of brain ILAE Commission 2009

3 3 Factors taken into consideration include –Seizure type(s) –Age of Onset –Precipitating factors –Severity, Chronicity –Diurnal/circadian cycling –Etiology: genetics, structural pathology –Associated neurological problems –Interictal EEG Concept of Epileptic Syndromes

4 4 Advantages of a syndromic diagnosis Provide information about –Age of onset –Etiology –Seizure type –Precipitating factors –Chronicity –Prognosis –Choice of treatment

5 5 Epileptic Encephalopathy Electro-clinical syndrome associated with a very high probability of encephalopathic features that present or worsen after the onset of epilepsy Pharmaco-resistant

6 6 Neonatal Epileptic syndromes Early Myoclonic encephalopathy Ohtahara syndrome Benign familial neonatal seizures

7 7 Early Myoclonic Encephalopathy Early Myoclonic Encephalopathy (Aicardi et al 1978) Onset: first weeks of life Erratic, focal, rarely generalized myoclonic and clonic seizures High incidence of consanguinity Sometimes IEMs: (NKHG) EEG: Burst- Suppression Pattern, persists for months; awake & sleep Intractable to therapy - seizure pattern may change over time Severe disability; early death

8 8

9 9 3 months later

10 10 Early Infantile Epileptic Encephalopathy ( Ohtahara 1976) Onset in the first weeks of life Characteristic repetitive ‘tonic spasms’ - focal or generalized Commonly associated with structural brain abnormalities EEG burst suppression pattern, > in sleep, evolves to hypsarrythmia Intractable to AEDs Neurological outcome is very poor, early death Evolves to WS, LGS

11 11 Fp1-F3 F3 –C3 C3 – P3 P3 – O1 Fp2 F4 F4 – C4 C4 – P4 P4 – O2 Fp1 –F7 F7 – T3 T3 – T5 T5 – O1 Fp2 F8 F8 – T4 T4 – T6 T6 – O2 EKG

12 12 Benign familial neonatal Seizures Second or third day of life Repetitive isolated seizures Autosomal dominant 10-15% develop epilepsy later No psychomotor deficit EEG: Non specific, focal abnormalities

13 13 Electro-clinical syndromes of Infancy West syndrome Febrile seizures plus Dravet syndrome Migrating partial seizures of infancy Myoclonic epilepsy in infancy Myoclonic encephalopathy in nonprogressive disorders Benign familial infantile seizures

14 14 WEST SYNDROME : INFANTILE (EPILEPTIC) SPASMS Myoclonic < Spasms < Tonic Flexor, Extensor, Flexor-extensor Subtle spasm Asymmetrical spasm in symptomatic Onset 3-12 m (4 months); till 2 yrs Occipital lesions---- early onset Frontal lesions -----later onset

15 15 West Syndrome Symptomatic, Cryptogenic, Idiopathic Symptomatic- cortical malformations, HIE, tuberous sclerosis,infections, genetic and chromosomal abnormalities etc Focal lesions ++ Autistic regression / visual agnosia Evolution LGS / partial seizures

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18 18 Awake Inter-ictal Hypsarrthymmia (50-60%): Chaotic background with high amplitude delta,asynchronous multifocal spikes, polyspikes and electrodecremental activity

19 19 Hypsarrhythmia with focal slowing (Left temporo-occipital FCD )

20 20 Spasms & hypsarrhythmia resolve by 2y Evolve to focal seizures (R occipital lesion)

21 21 Ictal- Generalised sharpwaves/slow waves with attenuation

22 22 WHEN FEBRILE SEIZURES ARE NOT FEBRILE SEIZURES GEFS + (Gen. Epilepsy febrile seizures plus) –Common under-recognised disorder –Autosomal dominant with high penetrance –Typical FS, FS + lasting longer, Afebrile GTCs most common –Occasionally absence, myoclonic, atonic –Focal seizures of frontal or temporal lobe in origin –Dravet’s syndrome overlap –Remits in adolescence 80% –Sodium channelopathy

23 23 Dravet’s syndrome (SMEI) 1 st year febrile / afebrile unilateral / GTCs; status epilepticus Later myoclonus, atypical absence, complex focal Resistant to AEDs Cognitive regression, ataxia 2 nd year FH % Severe idiopathic generalised epilepsy of infancy (SIGEI) with GTCs: No myoclonus

24 24 EEGs normal ; later generalized epileptic photosensitivity Consider this syndrome when febrile / illness provoked seizures start in infancy and EEG is persistently NORMAL

25 25 GEFS + SCN1A mutations EM-AS DRAVETs SIGEI

26 26 Malignant migrating partial epilepsy of Infancy Epileptic encephalopathy Mean age 3 months Continuous multifocal seizures arising independently from multiple regions Psychomotor deterioration Seizure control is exceptional

27 27 Migrating seizures of infantile Malignant migrating partial epilepsy of infancy

28 28 Migrating seizures of infantile

29 29 Childhood epilepsy syndromes Benign epilepsy with centrotemporal spikes Early onset Benign childhood occipital epilepsy (Panayiotopoulos Syndrome) Late onset childhood occipital epilepsy (Gastaut type) Epileptic encephalopathy with CSWS Landau-Kleffner syndrome Lennox-Gastaut syndrome Autosomal dominant nocturnal frontal lobe epilepsy Childhood Absence epilepsy Epilepsy with myoclonic absence

30 30 BECTS [Benign Rolandic Epilepsy] Most common partial epilepsy in childhood Onset 2-14 years; ¾ 7-10 yrs Seizure frequency- –10-20% have a single seizure –20% have frequent seizures –< 2% have seizures into adulthood “No other” neurological issues

31 31 Ictal Semiology Focal facial sensorimotor Oro-pharyngo- laryngeal Hyper salivation Speech arrest 70% nocturnal 60% retained awareness Lasts 1-2 min Sec. Generalized % Clonic upperlimb

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33 33 Panayiotopoulos Syndrome Tonic eye deviation N, R, Vomiting Pallor + other autonomic Ictal syncope 70% nocturnal Peak- 4 to 5 years Lasts longer; 44% > 30 min EEG focus-commonly occipital, variability ++

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35 35 Idiopathic childhood occipital epilepsy of Gastaut Mean age : 8 years Elementary visual hallucinations Ictal blindness Deviation of eyes Severe headache EEG shows occipital paroxysms, often demonstrating fixation-off sensitivity

36 36

37 Epileptic Encephalopathy of Late Childhood A spectrum of diseases 1.Landau- Kleffner syndrome 2.CSWS Syndrome Gradual cognitive/behavior deterioration Acquired language impairment Seizures Dramatic activation of epileptiform abnormalities in slow wave sleep LKS CSWS

38 38 Landau Kleffner Syndrome Our son was normal in every way until the age of 2 years. At first he seemed to be losing his hearing but not for environmental sounds. We thought that he was going deaf, but the hearing test was normal… When he was 3 years old he didn’t say anything for over a month. He improved for a few months and then he had a minor seizure »From the internet description by a mother

39 39 LKS Vs Epilepsy with CSWS »LKS CSWS 80% Spikes Temporal Seizures 75% Symptomatic rare Verbal auditory agnosia Behavioural deficit common 50% reach near normal life Epilepsy with CSWS CSWS 100% Frontal spikes Seizures -100% One third symptomatic Expressive aphasia Nearly all One-quarter reach normal

40 40

41 41 Fp1-F3 F3 –C3 C3 – P3 P3 – O1 Fp2 F4 F4 – C4 C4 – P4 P4 – O2 Fp1 –F7 F7 – T3 T3 – T5 T5 – O1 Fp2 F8 F8 – T4 T4 – T6 T6 – O2 EKG

42 42

43 43 Lennox Gastaut Syndrome Polymorphic seizures Tonic Seizures - Commonest Atypical absences – 2/3 rd of patients Atonic seizures (Drop attacks) Myoclonic jerks Cognitive and behavioural abnormalities EEG Slow spike and wave, Paroxysms of fast activity

44 44 Lennox-Gastaut Syndrome Peak age 3-5 years Symptomatic form most common One third idiopathic No genetic predisposition Half of the West syndrome and others progress to LGS Poor prognosis

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46 46

47 47 EVOLUTION OF SYNDROMES OTAHARA’S (neonate) WEST (infant) LENNOX GASTAUT (toddler)

48 48 D 15 infant refractory tonic / partial seizures; BH N MRI N / Metabolic N EE with suppression – burst (OTOHARA’s )

49 49 Epileptic spasms a few months later HYPSARRYTHMIA MODIFIED BY SLEEP

50 y; MR, Tonic seizures in sleep; Drop attacks with injuries; Episodes of atypical absence status & regression SLOW SPIKE WAVE-LGS

51 51 Epilepsy with Myoclonic-Astatic Seizures( Doose Syndrome) Normal development prior to the onset Onset peaks at 2-4 years Two-thirds of children have febrile and afebrile GTCS to begin with Myoclonic astatic seizures (post myoclonic atonia) Normal background EEG with 2-3 Hz GSWD

52 52 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) Hypermotor seizures Consciousness is usually preserved Postictal state is entirely normal Common in hypnagogic state or shortly before awakening Interictal EEG is usually normal Video-polysomnographic EEG – frontal ictal rhythms in 30% of cases

53 53 Childhood Absence Epilepsy Brief staring spells (“petit mal”) with impairment of awareness –3-20 seconds –Sudden onset and sudden resolution –Often provoked by hyperventilation –Onset typically between 4 and 14 years of age –Often resolve by 18 years of age  Normal development and intelligence  EEG: Generalized 3 Hz spike-wave discharges

54 54 OIRDA

55 55 3 Hz GSWD, Higher voltage in the anterior region, No marked variation in intradischarge frequency, no fragmentation in the ictal discharge

56 56 Epilepsy with Myoclonic Absences

57 57 Syndromes in Adolescence-Adults Juvenile Myoclonic epilepsy Juvenile absence epilepsy Epilepsy with GTCS alone Autosomal dominant partial epilepsy with auditory features (ADPEAF) Progressive myoclonic epilepsies

58 58 Juvenile Myoclonic Epilepsy Most common among IGEs: 4-6% Genetically determined %: family history of epilepsy Myoclonic seizures (MSs): 100% Generalized tonic-clonic seizures: 90% Absence seizures: 35% EEG-3-6 Hz spike/polyspike-slow waves with intradischarge fragmentation and unstable frequency One third of patients have photoparoxysmal responses

59 59

60 60 Juvenile Absence Epilepsy Usual age of onset years Typical Absences- impairement of consciousness GTCS – In nearly 80% of patients Myoclonic jerks -random Absences>GTCS>Myoclonic jerks Ictal EEG shows 3-4 Hz GSWD

61 61 Progressive Myoclonic Epilepsies Symptomatic generalized epilepsies Myoclonic seizures Progressive neurological abnormalities MERRF: early childhood or as late as 65 yr of age Unverricht-Lundborg disease: 6-15 yr (mean 11 yr) Lafora’s disease: yr Neuronal ceroid lipofuscinosis Sialidosis

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64 64 Reflex Epilepsies Reading Epilepsy Idiopathic photosensitive occipital epilepsy Startle Epilepsy Eyelid Myoclonia with absences (Jeavons Syndrome)

65 65 Reading Epilepsy Stimulus: reading, talking (fast or argumentative), writing. Manifests as myoclonic jerks of the jaw muscles Other types of seizures is exceptional Symptomatic form can have focal seizures manifesting with alexia and dysphasia Interictal EEG is usually normal

66 66 Idiopathic photosensitive occipital epilepsy Visual hallucinations Blurring of vision and blindness Seizures induced by photic stimuli Commonly induced by video games Photic stimulation elicits PPR spikes

67 67

68 68 Jeavons Syndrome Age group : 6-8years F>M Eyelid myoclonia with and without absences Eye closure induced seizures or EEG paroxysms Photosensitivity

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70 70 Diagnosis of epileptic syndromes- problems Exact diagnosis may not be possible on first contact Needs periodic follow up Evolution of syndrome eg: west syndrome  LGS Overlapping features

71 71 THANK YOU


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