Vasovagal syncope misdiagnosed as epilepsy for 17 years: prime importance of clinical history.

Distinguishing epilepsy from syncope often can be challenging. We report a case of a 20-year-old patient with presumed refractory epilepsy since the age of 3 years. Although the clinical suspicion of syncope was raised at the age of 9 years, key historic features were not identified, cardiac work-up was not pursued and despite lack of electrographic evidence of epilepsy, he received anticonvulsant treatment. During his presurgical evaluation for "refractory epilepsy", one typical event was captured that was associated with asystole and normal electroencephalogram. The diagnosis of vasodepressor syncope was made and anticonvulsant medication was discontinued. With this case report, we would like to emphasize the importance of a meticulous history and the need to perform continuous video electroencephalographic with simultaneous electrocardiographic recordings in the evaluation of paroxysmal events with atypical presentation. [Published with video sequences].     

Micturition syncopes.

Micturition syncope accounts for 8.39% of the total number of syncopes and is prevalent among men in the 50 and 60 year age groups. The cardiovascular vegetative nervous system is unaffected in patients with micturition syncope. Sixty-one percent of patients with micturition syncope also exhibit other kinds of syncope. These patients experience vasovagal reaction during the vegetative activation tests more often than patients exclusively with micturition syncope.     

Paramnesic multiplication of autobiographical memory as a manifestation of interictal psychosis

This report describes a male patient with temporal lobe epilepsy who developed a persistent paranoid-hallucinatory state at the age of 23. The essential feature of his delusion was that he had repeatedly lived part of his life, namely between the ages of 21 and 25 years. The patient repeatedly attempted suicide to escape the endless repetition. His paramnesia has some similarity with a déjà vu phenomenon, which is a common ictal manifestation of temporal lobe epilepsy. However, while only a sense of vague familiarity is evoked in a déjà vu phenomenon, conscious recollection is experienced during his paramnesia. We attempted to explain the pathophysiological mechanism of the patient's paramnesia in the framework of the current neurobiological theory of human memory.     

Familial vasovagal syncope and pseudosyncope: Observations in a case with both natural and adopted siblings

This report describes an 11-year-old girl with recurrent syncope beginning at the age of 2 1/2 years. Her paternal grandmother, father, and three of her five natural siblings had similar symptoms, often linked to emotional upsets. There were three adopted children from a single family, and none of these had syncope. Prior to referral there was an increase in attacks, some with convulsions, but with no other features of epilepsy. Vasovagal syncope was confirmed. However, continuous electroencephalogram, blood pressure, and heart rate recordings during attacks indicated that in some episodes there was neither cardiovascular change nor epileptiform activity, implying feigned syncope (pseudosyncope) with pseudoseizures. A psychological origin was sought, found, and in part rectified. The separation of vasovagal syncope from pseudosyncope, in the context of the family history, is discussed.     

Syncope or seizure? The diagnostic value of synchronous tilt testing and video-EEG monitoring in children with transient loss of consciousness

Syncope and seizure are frequently encountered problems in daily neurology practice, and they also share common findings such as transient loss of consciousness and atonia. Sometimes, it is difficult to make a differentiation between the two entities using only clinical findings. In this study, nineteen patients aged between 5 and 20 years who had recurrent transient loss of consciousness and occasional atonic events were examined with synchronous tilt testing and video-EEG recordings. Eleven patients were initially diagnosed with epilepsy, and they were given antiepileptic drugs. Eight patients displayed neurally mediated syncope during examination. Four of the eight patients had cardioinhibitory syncope type 2B. Three-fourths of the patients with syncope had been initially diagnosed with epilepsy and were prescribed antiepileptic drugs. One patient with cardioinhibitory syncope who had prolonged asystole and frequent attacks needed a cardiac pacemaker. Following implantation, she had no new attacks. Synchronous tilt testing and video-EEG recordings give more information than doing them separately, and they are helpful in the differential diagnosis of syncope and seizure.     

Syncope as a first sign of seizure disorder

We studied the long-term follow-up of patients with the diagnosis of "syncope of unknown origin," and their progression to epilepsy to gain a better understanding of the relationship between syncope and epilepsy, and to determine whether findings of the first syncopal attack have prognostic significance in relationship to the onset of epilepsy or not. Eighteen patients with the diagnosis of syncope of unknown origin were evaluated for the possibility of becoming epileptic during a 4-year period, and four patients showed characteristic seizure disorder. There were no clinical or laboratory features that differentiated them from the nonepileptic group, except that they were all girls. The interval between the first syncopal attack and the typical epileptic seizure ranged between 7 and 19 months. Syncope of unknown origin could be the first sign of an epileptic disorder, especially in girls. Long-term follow-up extending up to 1 year is necessary to disclose the risk of becoming epileptic.     

Post-micturitional hypotension in patients with multiple system atrophy

BACKGROUND: Patients with multiple system atrophy (MSA) occasionally have episodes of syncope or pre-syncope after micturition. OBJECTIVE: To clarify the mechanism of these episodes by investigating the haemodynamic changes associated with micturition. METHODS: 25 patients with probable MSA and 16 age matched normal controls were studied. Continuous records of blood pressure and heart rate were made during water cystometry, along with the Valsalva manoeuvre, head up tilt testing, measurement of plasma noradrenaline, and calculation of coefficient of variance of RR intervals. RESULTS: Compared with normal controls, MSA patients had a lower baseline blood pressure, smaller blood pressure and heart rate increases during bladder filling, and an abnormal fall in blood pressure for a longer duration after voiding, resulting in significantly lower blood pressure than at baseline (mean systolic blood pressure reduction -15.2 mm Hg), and hypotension compared with control blood pressure (-29.0 mm Hg). The blood pressure fall was greater in patients with micturition syncope/pre-syncope than in those without. It was also greater in patients with abdominal straining resulting from difficulty in voiding. Other cardiovascular indices did not correlate with the fall in blood pressure. CONCLUSIONS: Hypotension after voiding in MSA patients may result from generalised autonomic dysfunction and abnormal abdominal straining, resulting in micturition syncope.     

Tilt table testing in patients with suspected epilepsy

Background –  Approximately 20–30% of patients with epilepsy are misdiagnosed and syncope often seems to be the mistaken cause. We re-evaluated patients referred to an epilepsy clinic where suspicion of neurally mediated (reflex) syncope were raised using tilt table testing (HUT).
Methods –  HUT laboratory results and medical records of 120 consecutive patients were reviewed retrospectively over a period of 27 months.
Results –  HUT was positive in 59 (49%) patients. Seventeen of 38 (45%) patients previously diagnosed with epilepsy and taking antiepileptic drugs were found to be misdiagnosed. Four of 21 patients with epilepsy (19%) had dual diagnoses of reflex syncope and epilepsy.
Conclusion –  HUT is an informative investigation when suspicions of reflex syncope are raised in patients referred to an epilepsy clinic. Reflex syncope is an important and common differential diagnosis of epilepsy.     

Acquired epileptic dysgraphia: a longitudinal study

A male presenting with benign partial epilepsy with rolandic spikes from the age of 7 years was evaluated at age 11 years for worsening of his epilepsy associated with a specific regression of graphomotor skills. A longitudinal study over nearly 2 years showed an improvement in handwriting to an almost normal level under modified antiepileptic therapy. A detailed analysis with a computer-monitored graphics table showed at first a rapid improvement of skills followed by protracted slower progress. We argue that the initial rapid recovery of skills was directly linked to the improvement of his epilepsy. The slower late acquisition of motor programmes that had never been fully established was due to long-standing interference by his epilepsy. The specificity of the deficit within the graphomotor system and its possible neurobiological basis are also discussed. The analytical method and approach used in a single patient might provide an example for other patients in whom epilepsy can interfere in the acquisition, progress, and maintenance of new skills and can be responsible for selective deficits.     

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia

Muscle glycogen storage disease 0 (GSD0) is caused by glycogen depletion in skeletal and cardiac muscles due to deficiency of glycogen synthase 1 (GYS1), which is encoded by the GYS1 gene. Only two families with this disease have been identified. We report a new muscle GSD0 patient, a Japanese girl, who had been suffering from recurrent attacks of exertional syncope accompanied by muscle weakness and pain since age 5 years until she died of cardiac arrest at age 12. Muscle biopsy at age 11 years showed glycogen depletion in all muscle fibers. Her loss of consciousness was gradual and lasted for hours, suggesting that the syncope may not be simply caused by cardiac event but probably also contributed by metabolic distress.     

Syncope,seizure-induced bradycardia and asystole: Two cases and review of clinical and pathophysiological features

Episodes of transient loss of consciousness (TLOC) are commonly due to syncope or epileptic seizures. The distinction between both entities on clinical grounds and eyewitness accounts can be challenging and is often hampered by similar clinical features. We briefly summarize syncope-related symptoms and present the case of a female patient who suffered from TLOC episodes due to both reflex syncope and epileptic seizures. Seizure-induced syncope is a rare complication particularly of non-generalized temporal lobe seizures and may be suspected in people with epilepsy who report new semiological features with sudden onset of atonia, TLOC and seizure-related falls. We review epidemiological, clinical and electroencephalographic aspects of seizure-related asystole and syncope and discuss their clinical relevance. The implantation of a cardiac pacemaker appears to efficiently prevent seizure-related falls and consecutive injuries and is an important treatment option if full seizure-control cannot be achieved in these patients. We describe a second case of a patient with refractory temporal lobe epilepsy and seizure-related syncope which ceased after the implantation of a cardiac pacemaker.     

Relationship between severity of epilepsy and developmental outcome in Angelman syndrome

To clarify the relationship between the degree of developmental disturbance and the severity of epilepsy in Angelman syndrome, we investigated 11 patients and measured both clinical outcomes and EEG parameters. Seven patients were followed up until after 8 years of age. Eight patients were found to have 15q11-q13 deletions. All patients experienced epileptic seizures and all but one displayed non-convulsive status epilepticus (NCSE) during the period of observation. Epileptic seizures, including NCSE, disappeared by around 8 years of age. In addition, specific epileptic discharges, as measured by EEG, tended to subside with age. Although development seemed almost normal or only slightly delayed during the first 6 months of life, all patients eventually developed severe retardation. Two patients displayed very severe retardation and were unable to comprehend language or walk independently at the last follow-up. Only one patient was able to speak a few meaningful words. In one of the most severely affected patients, who showed the earliest onset of seizures and NCSE, it is possible that the repetitive bouts of NCSE might be responsible for the severe developmental outcome. However, the other patient with particularly severe retardation did not experience NCSE, while the patient with the most favorable outcome had repetitive episodes of NCSE. Therefore, we conclude that the severity of developmental disturbance in Angelman syndrome is not necessarily related to the degree of epilepsy. However, intensive therapy for NCSE might still be justified because there are some patients in whom NCSE results in a transient and sometimes permanent decline in mental and motor functioning.     

Successful balloon-occluded retrograde transvenous obliteration (B-RTO) in a case of symptomatic epilepsy with hepatic encephalopathy due to non-cirrhotic porto-systemic shunt]

We report a 66-year-old man with hepatic encephalopathy due to a non-cirrhotic porto-systemic shunt during the course of treatment for epilepsy with sodium valproate. The patient developed symptomatic epilepsy after an operation for intracranial arterio-venous malformation at the age of 41, and had been treated with sodium valproate and phenytoin since. At the age of 66, he developed convulsions that were thought to be symptomatic epilepsy with hyperammonemia. Despite sodium valproate having been tapered rapidly and then discontinued, hyperammonemia continued. Abdominal contrast enhanced CT demonstrated a large spleno-renal shunt. Although he was treated with lactulose, he developed encephalopathy with hyperammonemia several times. At the age of 67, we occluded the spleno-renal shunt by balloon-occluded retrograde transvenous obliteration (B-RTO), after which, his clinical symptoms improved, together with normalizing of the ammonia level and EEGs.     

Orthostatically induced epileptoid attack

An epileptoid attack induced by orthostatic hypotension seen in a 72-year-old man was reported. The patient had been suffering from progressive autonomic failure with parkinsonism for six years and he had severe orthostatic hypotension, syncope and generalized convulsion when he stood up. The convulsion sometimes associated with urinary incontinence, ceased immediately when he lay down although he remained drowsy for a while. Occasionally the seizure ceased spontaneously and he regained consciousness even while he was kept standing. On lying position his blood pressure was 167/88 mmHg and no abnormality was seen in electroencephalogram. When he was tilted up to 50 degrees his blood pressure fell to 70/46 mmHg, and he became unconscious followed by jaw twitching and generalized clonic seizure. Electroencephalogram during seizure showed sharp wave and rhythmic spikes. Other laboratory examination revealed diffuse and severe autonomic dysfunction and slight cerebral atrophy on brain CT scanning. He was treated with diphenylhydantoin 300 mg/day and the seizure responded partially. The reasons why the patient's seizure was thought to be epileptic rather than the convulsive syncope were as follows: the type of the seizure was similar to an epileptic generalized convulsion, the seizure and unconsciousness ceased spontaneously even during standing position, the seizure and impaired consciousness partially responded to diphenylhydantoin administration. The underlying pathophysiology of the seizure was thought to be transient cerebral hypoperfusion induced by orthostatic hypotension.     

Video-EEG in syncopal attack due to ocular compression in an adolescent mistreated for epilepsy.

Vasovagal syncope can be confused with epileptic seizure. In this situation, eye compression may be performed during EEG. We present a video-EEG of a patient in whom eye compression produced a typical syncope. Before this recording, the patient had been treated for five years with sodium valproate because of a misdiagnosis of epilepsy. The diagnosis of neurally-mediated syncope was not difficult on the basis of the clinical history, but the reproduction of syncope reinforced the correct diagnosis. Ocular compression is now only indicated in exceptional circumstances and should be performed with precautions. The video of this episode in an adolescent should be of considerable educational value to those who are confronted to diagnostic work-up of transient loss of consciousness.     

Rasmussen encephalitis: Incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins

Purpose: Rasmussen encephalitis (RE) leads to progressive tissue and function loss of one brain hemisphere and often intractable epilepsy. This is the first randomized prospective treatment trial in RE. Methods: Germany‐wide, patients with suspected recent‐onset RE were recruited and if eligible randomized to tacrolimus or intravenous immunoglobulins (IVIGs). A loss of motor function or hemispheric volume by ≥15% (in patients >12 years at disease onset: ≥8%) led to study exit. Untreated patients served as a historical control group. Key Findings: Over 6.3 years, 21 patients with recent‐onset RE were identified. Sixteen were randomized to tacrolimus (n = 9) or IVIG (n = 7). Immunotreated patients had a longer “survival” than the historical controls. Neither treatment was more efficacious than the other. Two tacrolimus patients experienced serious adverse events. No immunotreated but several untreated patients developed intractable epilepsy. No patient with refractory epilepsy became treatment‐responsive under immunotherapy. Significance: The countrywide incidence rate of diagnosed RE is estimated as 2.4 cases/10⁷ people ≤ age 18/year. Treatment with tacrolimus or IVIG may slow down tissue and function loss and prevent development of intractable epilepsy. However, immunotherapy may “arrest” patients in a dilemma state of pharmacoresistant epilepsy but too good function to be offered functional hemispherectomy. These compounds may therefore contribute to the therapeutic armamentarium for RE patients without difficult‐to‐treat epilepsies.     

A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy

Myoclonic epilepsy in infancy (MEI) is a primary generalized epilepsy. According to the literature, the outcome of MEI is usually benign. Here we report a patient who developed myoclonic astatic epilepsy at age four, having been seizure free without antiepileptic drug treatment for 2 years after his recovery from MEI. At age four, a video-EEG-recording showed frequent head nodding (atonic seizures) and myoclonic astatic seizures associated with diffuse spikes or polyspikes and waves. The interictal EEG revealed frequent bursts of generalized 100-200 μV, 2-4 Hz spike-and-slow-wave complexes. Despite a general favorable outcome, more severe epilepsy syndromes may develop after MEI, and mental retardation is sometimes observed. Our case and the previous literature suggest that epilepsies following on from MEI often involve myoclonic seizures.     

Differenzialdiagnostische Kl?rung durch implantierten ?Loop“-Rekorder

It is not yet sufficiently clarified which patients who suffer from repetitive sudden losses of consciousness (SLOC) and for whom the differential diagnosis between epileptic seizure and syncope is open would benefit from the use of an implantable loop recorder (ILR). This article describes the case of a patient who suffered from infrequent SLOC and who had been referred in order to improve the treatment of the suspected drug-resistant epilepsy. The patient had shown normal results during extensive cardiological work-up and presented with normal neurological, magnetic resonance imaging (MRI) and routine electrocardiogram (EEG) findings. Long-term video EEG also did not reveal any abnormalities. Typical examples of syncope, epileptic and psychogenic non-epileptic seizures had been shown to the husband as an eyewitness but he was still not able to help with the diagnosis. An ILR was implanted and the typical attacks could be recorded and were diagnosed as asystole. The patient was treated with a pacemaker and has remained free from attacks with a follow-up of 4 years. It can be concluded that in adult patients with infrequent SLOC in spite of normal neurological, neuroimaging and long-term EEG results and in spite of normal cardiological findings cardiac syncope is more probable than epileptic seizures. Implantation of an ILR offers a chance to find the correct diagnosis and is therefore recommended if such clinical circumstances exist.     

Epilepsy as the presenting feature of neuroacanthocytosis in siblings

Summary A brother and sister developed epilepsy at the age of 28 and 30 years respectively, and were subsequently found to have neuroacanthocytosis. The brother developed tics, and a tendency to self-mutilate a year later, but his sister had not developed any movement disorder in the 5 years since the onset of epilepsy. In families with epilepsy, the diagnosis of neuroacanthocytosis should be considered, particularly when one family member has tics or other involuntary movements.     

Longterm follow-up of childhood epilepsy with absences. II. Absence-epilepsy with initial grand mal

The study deals with 83 patients with absence epilepsy which had started with generalized tonic clonic seizures. Only those patients were included, who could be followed up to an age older than eighteen years. The patient population is heterogeneous; it includes numerous older patients in whom therapy had been instituted at a time when the present standard medication with ethosuximide and valproate was not available. Therefore the data cannot be used as a basis for global statements concerning the prognosis of absence epilepsy with grand mal onset. About 80% of the patients treated with standard therapy became seizure free. An unfavourable course was mainly preceded by incorrect, irregular and quantitatively inadequate therapy. Standard therapy cannot prevent singular generalised tonic clonic seizures in the late course. The social status of adult patients is mainly favourable if they are seizure free. Sporadic attacks usually will not impair social integration. In all, absence epilepsy starting with grand mal responds not as well to therapy and has a more unfavourable social prognosis than epilepsy starting with absences.