case studies in epilepsy - beckassets.blob.core.windows.net

Section 1

Case

1Diagnosis

First seizure: is it epilepsy?

Christophe Rauch and Hermann Stefan

HistoryA 27-year-old man went to a supermarket in theafternoon when he remarked on blurred vision andthen lost consciousness. Motoric relinquishings wereobserved by other customers. The young manregained consciousness upon the arrival of the emer-gency physician. The physician detected a tongue biteand measured a low blood glucosis level of 45 mg/dl.The patient was referred to the emergency room ofthe neurological department.

The patient told that this was the first seizure hehad suffered. Furthermore, he told that he had noteaten much that day. There were no other diseasesknown in this patient, no familiar disposition.

Actual treatmentNone

What to do?Further investigations– EEG: Alpha-EEG, no epileptiform activity– Blood samples: Blood glucosis 62 mg/dl, nofurther noticeable values

– MRI: normal finding

DiagnosisHypoglycemia with seizure.

TreatmentTreatment of the hypoglycemia and research forreasons for the hypoglycemia. Further investigationsfor Diabetes mellitus, insulinoma, and further differ-ential diagnosis.

General remarksAccording to the consensus definition of seizure andepilepsy by The International League Against Epilepsy(ILAE) and the International Bureau for Epilepsy(IBE), an epileptic seizure is a transient occurrenceof signs and/or symptoms due to abnormal excessiveor synchronous neuronal activity in the brain.

Special remarksHypoglycemia can be one cause for seizures especially ifa seizure occurs in the morning before breakfast or afterexercise. Therefore, the reason for hypoglycemia needsto be resolved. One misdiagnosis can be an insulinomawhich is one of the most common hormone-secretingtumors of the gastrointestinal tract. It causes hypogly-cemic phases with symptoms concerning the autonomicsystem such as sweating, tremor, anxiety, etc. and symp-toms concerning the central nerve system such as con-fusion, lethargy, bizarre behavior, and cognitivetroubles, etc. These symptoms can be quite similar toepileptic seizures. Epilepsy can be already diagnosed ifonly one spontaneous seizure occurs, if signs for anenduring predisposition such as spike-wave activity inthe EEG coincide. This was not the case in our patient.

Case Studies in Epilepsy, ed. Hermann Stefan, Elinor Ben-Menachem, Patrick Chauvel and Renzo Guerrini. Published byCambridge University Press. © Hermann Stefan, Elinor Ben-Menachem, Patrick Chauvel and Renzo Guerrini 2012.

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www.cambridge.org© in this web service Cambridge University Press

Cambridge University Press978-0-521-16712-3 - Case Studies in Epilepsy: Common and Uncommon PresentationsHermann Stefan, Elinor Ben-Menachem, Patrick Chauvel and Renzo GuerriniExcerptMore information

http://www.cambridge.org/9780521167123

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Suggested readingFisher RS, van Emde Boas W, Blume

W, et al. Epileptic seizuresand epilepsy: definitions proposedby the International LeagueAgainst Epilepsy (ILAE) andthe International Bureau for

Epilepsy (IBE). Epilepsia 2005;46: 470–2.

Graves TD, Gandhi S, SmithSJM, et al. Misdiagnosis ofseizures: insulinomapresenting as adult onsetseizure disorder.

J Neurol Neurosurg Psychiatry2004; 75: 1091–2.

Pohlmann-Eden B, Beghi E, Camfield C,Camfield P. The first seizureand its management in adultsand children. BMJ 2006; 332:339–42.

Section 1: Diagnosis

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Section 1

Case

2Diagnosis

Intractable epilepsy and epilepsia partialiscontinua associated with respiratorychain deficiencyFrancescoMari and Renzo Guerrini

Clinical historyA 5-year-old boy with a history of severe developmen-tal delay and dyskinetic quadriparesis was admitted toour ward after onset of a cluster of convulsive seizuresassociated with epilepsia partialis continua involvingthe right facial and shoulder muscles (Fig. 1).

General historyThere was no relevant family history of neurologicalor systemic disorders.

ExaminationDyskinetic quadriparesis. Severe developmental delay.No dysmorphic features.

Image findingsSeveral brain MRI scans were performed duringfollow-up. The first scan, 3 days after the admission,showed a left temporo-parieto-occipital ischemiclesion (DWI positive) as well as atrophy brain changes,involving both the cortical and subcortical structures(Fig. 2). A repeat MRI scan, 10 days later, revealedadditional ischemic lesions in the frontal lobes.

Follow-upEpilepsia partialis continua persisted despite treat-ment with multiple antiepileptic drugs in the inten-sive care unit. As clinical and brain MRI findings wereconsistent with a mitochondrial disorder, we per-formed muscle biopsy.

Special studiesMuscle biopsy with biochemical study of the respiratorychain revealed a deficit of complex I and III activity.

DiagnosisMitochondrial encephalopathy (complex I–III deficit)with epilepsia partialis continua.

General remarksClinical presentation of respiratory chain defectsin childhood causes a large variety of clinicalsymptoms. In general, a diagnosis of respiratory chaindefect is difficult to consider when the initial symp-toms occur. Epilepsy is frequently reported with dif-ferent clinical characteristics including neonatal onsetof status epilepticus, Ohtahara syndrome, West syn-drome, epilepsia partialis continua, and Alpers syn-drome. Appearance of a worsening epilepticsyndrome often correlates with a clinically relevantoverall worsening of mitochondrial pathology.

Special remarksEpilepsia partialis continua, i.e., continuous focaljerking involving a body part, is related to a fixed orprogressive lesion involving the motor cortex. Severalstudies have highlighted the relevance of this peculiarepileptic pattern in children with vascular lesionssecondary to mitochondrial disorders.

Future perspectivesDespite the increasing knowledge of the molecularbases of mitochondrial encephalomyopathies, no spe-cific treatment for these disorders is available yet.Palliative/supportive measures and metabolic therap-ies are useful in ameliorating specific problems andquality of life of patients. Gene therapy is a promisingapproach, but the clinical relevance of its use remainselusive.


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Fp2 F4

F4 C4

C4 P4

P4 O2

Fp2 F8

F8 T4

T4 T6

T6 O2

L Delt

Fp1 F3

F3 C3

C3 P3

P3 O1

Fp1 F7

F7 T3

T3 T5

T5 O1

R Delt

Fz Cz

Cz Pz

Pz Oz

ECG

Resp Th100 uV 1 sec

(a)

Fp2 F4

F4 C4

C4 P4

P4 O2

Fp2 F8

F8 T4

T4 T6

T6 O2

L Orb Oculi

L Orb Oris

R Orb Oculi

R Orb Oris

Fp1 F3

F3 C3

C3 P3

P3 O1

Fp1 F7

F7 T3

T3 T5

T5 O1

Fz Cz

Cz Pz

Pz Oz

100 uV 1 sec

(b)

Fig. 1(a), (b). Polygraphic video–EEG recordings: diffusely slow background activity with superimposed rhythmic spikes andslow-waves over the left hemisphere, with centro-parietal predominance. Continuous myoclonic potentials are recorded over theright deltoid and also involve the right orbicularis oris.


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Suggested readingCockerell OC, Rothwell J, Thompson

PD, Marsden CD, Shorvon SD.Clinical and physiological featuresof epilepsia partialis continua. Casesascertained in the UK. Brain 1996;119: 393–407.

DiMauro S, Schon EA.Mitochondrial respiratory-chain

diseases. N Engl J Med 2003; 348:2656–68.

Riquet A, Auvin S, Cuisset JM, et al.Epilepsia partialis continua anddefects in the mitochondrialrespiratory chain. Epilepsy Res 2008;78: 1–6.

Sabbagh SE, Lebre A, Bahi-Buisson N,et al. Epileptic phenotypes in

children with respiratory chaindisorders. Epilepsia 2010;51: 1225–35.

Veggiotti P, Colamaria V, DallaBernardina B, et al. Epilepsiapartialis continua in a case ofMELAS: clinical andneurophysiological study.Neurophysiol Clin 1995; 25: 158–66.

(a)

(b)(i)

(b)(ii)

Fig. 2. Axial brain MRI images (a) DWI and (b) FLAIR: subacute left temporo-occipital vascular lesion and mild diffuse cortical andsubcortical atrophy.

Case 2: Intractable epilepsy and epilepsia partialis continua associated with respiratory chain deficiency

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Section 1

Case

3Diagnosis

Reasons for violent behavior –when a manstrangles his wifeFrank Kerling and Hermann Stefan

Clinical historyA 44-year-old patient was suffering from epilepsywith complex partial seizures since the age of 12 andhe was being treated with ethosuximide and pheny-toin. Under this drug regimen the patient was seizurefree during day-time, but there were nocturnal epi-sodes of walking around, opening/closing doors andafterwards falling asleep again. The patient had nomemory of the event and his wife reported that herhusband was not reacting when she talked to him.One night she tried to hold him, because he wanted toleave the house. In this situation he tried to strangleher and she and her daughter were extremely scared.Therefore she thought about divorce and the patienthad to sleep in the cellar with the door locked atnight-time. He was very desperate and remorsefulbecause of the situation and was admitted to ourhospital for diagnostic reasons.

ExaminationNeurological and psychiatric examinations were with-out any pathological findings except for a somehowdepressed mood because of the familial situation.

Special studiesIn video-EEG monitoring one nocturnal complex-partial seizure was detected. The patient showednose wiping, oral automatisms, rocking body move-ments, and an increased muscle tone in the rightface and arm. Initially, there was a right frontotem-poral 6 Hz pattern and after 34 seconds the patternpropagated to the left temporal lobe. The seizurewas followed by a 15-minute state of confusion,wandering, and aggressiveness. Afterwards, thepatient was not able to remember the seizure or

the confusion. MRI was normal and interictalSPECT showed hypoperfusion left temporal.

Follow-upWe informed the patient and his wife that he wassuffering from nocturnal seizures and that the vio-lence was due to postictal confusion. Therefore, weoptimized pharmacotherapy and started a new com-bination with oxcarbazepine and levetiracetam. Etho-suximide and phenytoin therapy were stopped ortapered down, respectively. The patient was almostseizure free with one seizure every 6 months and thepatient and his family were satisfied with this result.

DiagnosisPostictal confusion with aggressive behavior.

General remarksPostictal aggression and violence against othersare pretty rare with a percentage from 5% to 10% ofall postictal confusional states. There is clinical het-erogeneity among patients with postictal violencewith respect to etiology of epilepsy, age of onset,laterality, and memory of adverse behaviors. Severalclinical features, including male gender, are common.Typically, the episodes of postictal aggression arenot isolated events, but recur repeatedly often withstereotyped behaviors. Subacute postictal aggressionis even more likely after a cluster of seizures thanafter a single ictus. Aggression occurs especially whenrelatives or hospital staff try to restrain the patient.Most of the patients have medically intractableepilepsy and are remorseful in the interictal periodlike our patient was.


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Special remarksOur patient showed abnormal violence during atypical state of nocturnal confusion, when his wifetried to restrain him. He had been suffering fromepilepsy for decades and was seizure free during theday-time. A postictal aggression was more probablethan somnambulism. There is evidence that nocturnal

seizures, especially without tonic–clonic movements,can be missed by the partner and only the confusionis noticed. The results of the video–EEG helped thepatient and his family to understand the contextbetween seizures and confusion and the familial situ-ation was stabilized. A modified drug therapy led tosufficient seizure control.

Suggested readingGerard ME, Spitz MC, Towbin JA,

Shantz D. Subacute postictalaggression. Neurology 1998; 50:384–8.

Ito M, Okazaki M, Takahashi S, et al.Subacute postictal aggressionin patients with epilepsy.Epilepsy Behav 2007; 10:611–14.

Marsh L, Krauss GL. Aggressionand violence in patients withepilepsy. Epilepsy Behav 2000; 1:160–8.

Case 3: Reasons for violent behavior – when a man strangles his wife

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Section 1

Case

4Diagnosis

Repetitive monocular eye adduction

Adam Strzelczyk, Sebastian Bauer, and Felix Rosenow

Clinical historyA 24-year-old student presented with recurring epi-sodes of involuntary eye movements without disturb-ance of consciousness for the last 3 weeks. Hereported suffering from 5 to 8 attacks per day withan initial feeling of slightly impaired vision followedby adduction of the left eye only lasting for up to10 seconds. For the last 5 days he had also noticedhypoesthesia of the left hand during these episodes.For that reason, he presented to the neurologicalemergency department.

ExaminationAt the physical, neurological, and ophthalmologicexamination including visual fields, no abnormalitieswere detected. He had no history of febrile convul-sions, seizures, or any other risk factors for epilepsy.An episode as described above was observed by thetreating physician and an EEG with video recordingwas recommended.

Special studiesDuring a 2-hour video–EEG monitoring two rightfrontal EEG seizures (max. F4/C4) of up to 17 secondsduration were recorded, all of which were accompan-ied by an adduction of the left eye and symmetricalhead nodding. No other ictal or postictal symptomswere observed. Visual evoked potentials were withinnormal limits (Fig. 1a,b).

Image findings3T MRI sagittal FLAIR images showed a right frontalfocal cortical dysplasia. No other focal lesions weredetected (Fig. 2).

Follow-upInitial treatment with levetiracetam up to 4000mgdaily led to a decrease in seizure frequency by half.With a change of anticonvulsive treatment to carba-mazepine 400mg daily, a sustained seizure freedomof more than 2 years could be achieved.

DiagnosisSymptomatic focal right frontal epilepsy.

General remarksMonocular nystagmus is a rare and heterogenousneurological phenomenon. It is usually not of epilep-tic origin and has been reported in cases of anteriorvisual pathway lesions, monocular blindness, spas-mus nutans, and brainstem lesions associated withstroke or multiple sclerosis. Epileptic binocular nys-tagmus remains also an infrequent semiological find-ing and should not be confused with the epilepticgaze deviation. The physiology of binocular epilepticnystagmus is incompletely understood. Kaplan andcolleagues postulated that epileptic nystagmus ismediated by a seizure focus in a cortical saccaderegion contraversive to both quick and slow phasesof nystagmus.

Grant and colleagues reported a case of epilepticmonocular nystagmus with seizures originating in the


Seizures: simple motor seizures ->somatosensory auras

Cause: right frontal cortical dysplasia

Related medicalconditions:

none

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occipital lobe, pointing towards an activated corticalsaccade region, which caused simultaneous supranuc-lear inhibition of ipsilateral eye movement or trig-gered monocular eye movement commands. Bothour case and the one reported by Grant are at variancewith Hering’s law, which postulated that premotoreye movement commands are always binocular, andthat these commands consist of separate componentsfor the control of saccades and accommodation.

Special remarksRecent data from invasive video–EEG monitoringwith subdural grids reported by Thurtell and

colleagues give evidence for a three-dimensionalcortical control of gaze mediated by the frontal eyefields. Based on earlier findings from lesion, imaging,and stimulation studies the human frontal eye fieldsare thought to be located at the caudal end of themiddle frontal gyrus known to be in control of con-tralateral versive eye movements, saccades, andsmooth pursuit.

Both described patients developed disconju-gated contraversive horizontal eye movements inresponse to electrical stimulation of the frontalcortex or during focal seizures close to the frontaleye field.

Suggested readingGrant AC, Jain V, Bose S, et al.

‘Epileptic monocularnystagmus’. Neurology 2002; 59:1438–41.

Kaplan PW, Tusa RJ.‘Neurophysiologic andclinical correlations ofepileptic nystagmus’.Neurology 1993; 43:2508–14.

Lobel E, Kahane P, Leonardis U, et al.‘Localization of human frontaleye fields: anatomical andfunctional findings offunctional magnetic resonanceimaging and intracerebral

(a)

Fig. 1(a). EEG seizure pattern with right frontal seizure onset (max. F4/C4).

Case 4: Repetitive monocular eye adduction

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Fig. 2. Sagittal FLAIR image with a right frontal focal corticaldysplasia (arrow).

(b)

Fig. 1(b). Right frontal EEG seizure pattern; please note the occipital artifacts due to symmetrical head nodding.


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