Atypical evolution of Panayiotopoulos syndrome: a case report.

Panayiotopoulos syndrome is a relatively common condition with susceptibility to early onset benign childhood seizures, which manifests primarily with autonomic and mainly emetic symptoms. It predominantly affects children of 3-6 years of age (13% of those with one or more non-febrile seizures). EEG shows great variability, with occipital, extra-occipital spikes or brief generalised discharges alone or in combination; it may also be consistently normal. Occipital spikes do not occur in one third of children. Despite the high prevalence of autonomic status epilepticus, the prognosis of Panayiotopoulos syndrome is usually excellent. Remission usually occurs within 1-2 years from onset, one third have a single seizure but 5-10% may have more than 10 seizures or a more prolonged course. Atypical evolutions with absences, atonic seizures and intellectual deterioration are exceptional; only two cases have been previously reported. We present a girl who initially had a prolonged autonomic status epilepticus typical of Panayiotopoulos syndrome, followed by seizures, with concurrent symptoms of Rolandic epilepsy. She then had an atypical evolution with atypical absences, absence status epilepticus, atonic seizures and mild impairment of scholastic performance. The case emphasises the close links between Panayiotopoulos syndrome and Rolandic epilepsy, both of which probably represent different clinical phenotypes of a maturational-related benign childhood seizure susceptibility syndrome [published with videosequences].

Idiopathic generalised epilepsy with phantom absences and absence status in a child.

A syndrome of idiopathic generalised epilepsy with phantom absences of undetermined onset has been recently described. This syndrome clinically becomes apparent in adulthood with generalised tonic clonic seizures and frequently absence status epilepticus. We report an 11 year-old normal girl with frequent episodes of absence status and no other overt clinical manifestations. However, appropriate video-EEG recordings documented that she had frequent absence seizures that were so mild as to escape recognition by her and the parents. These consisted of mild impairment of cognition and eyelid fluttering during brief generalised discharges of spike/multiple spike and slow waves. No further seizures occurred and the EEG normalised after appropriate drug treatment. Thus, it appears that this syndrome of phantom absences and absence status may start much earlier, in late childhood. Appropriate video-EEG documentation is needed for the recognition of these patients that may be more common than it appears from the few published cases (with Video).

Treatment of typical absence seizures and related epileptic syndromes.

Typical absences are brief (seconds) generalised seizures of sudden onset and termination. They have 2 essential components: clinically, the impairment of consciousness (absence) and, generalised 3 to 4Hz spike/polyspike and slow wave discharges on electroencephalogram (EEG). They differ fundamentally from other seizures and are pharmacologically unique. Their clinical and EEG manifestations are syndrome-related. Impairment of consciousness may be severe, moderate, mild or inconspicuous. This is often associated with motor manifestations, automatisms and autonomic disturbances. Clonic, tonic and atonic components alone or in combination are motor symptoms; myoclonia, mainly of facial muscles, is the most common. The ictal EEG discharge may be consistently brief (2 to 5 seconds) or long (15 to 30 seconds), continuous or fragmented, with single or multiple spikes associated with the slow wave. The intradischarge frequency may be constant or may vary (2.5 to 5Hz). Typical absences are easily precipitated by hyperventilation in about 90% of untreated patients. They are usually spontaneous, but can be triggered by photic, pattern, video games stimuli, and mental or emotional factors. Typical absences usually start in childhood or adolescence. They occur in around 10 to 15% of adults with epilepsies, often combined with other generalised seizures. They may remit with age or be lifelong. Syndromic diagnosis is important for treatment strategies and prognosis. Absences may be severe and the only seizure type, as in childhood absence epilepsy. They may predominate in other syndromes or be mild and nonpredominant in syndromes such as juvenile myoclonic epilepsy where myoclonic jerks and generalised tonic clonic seizures are the main concern. Typical absence status epilepticus occurs in about 30% of patients and is more common in certain syndromes, e.g. idiopathic generalised epilepsy with perioral myoclonia or phantom absences. Typical absence seizures are often easy to diagnose and treat. Valproic acid, ethosuximide and lamotrigine, alone or in combination, are first-line therapy. Valproic acid controls absences in 75% of patients and also GTCS (70%) and myoclonic jerks (75%); however, it may be undesirable for some women. Similarly, lamotrigine may control absences and GTCS in possibly 50 to 60% of patients, but may worsen myoclonic jerks; skin rashes are common. Ethosuximide controls 70% of absences, but it is unsuitable as monotherapy if other generalised seizures coexist. A combination of any of these 3 drugs may be needed for resistant cases. Low dosages of lamotrigine added to valproic acid may have a dramatic beneficial effect. Clonazepam, particularly in absences with myoclonic components, and acetazolamide may be useful adjunctive drugs.

Tooth brushing-induced seizures: a case report.

We report a 28-year-old woman of normal intellect, who had three late-onset seizures with unusual ictal features and secondary generalization during prolonged and vigorous tooth brushing. Neurologic examination and brain magnetic resonance imaging (MRI) were normal, but interictal EEG showed left frontal epileptiform activity. Reasonable precautions (regular but briefer and less vigorous brushing of her teeth) combined with a moderate dose of carbamazepine effectively prevented seizure recurrence. This case may be an example of cryptogenic form of reflex epilepsy with seizures induced exclusively by tooth brushing.

Primary diffuse leptomeningeal gliomatosis simulating tuberculous meningitis.

Three patients are reported on who presented with communicating hydrocephalus due to presumed tuberculous meningitis. Subsequent clinical deterioration despite antituberculous chemotherapy prompted reassessment with FDG-PET scanning and meningeal biopsy in one case and repeat CSF cytology with special staining in the second. The third patient died and postmortem confirmed a diagnosis of primary diffuse leptomeningeal gliomatosis. In the first two patients, MRI of the entire neuraxis showed no evidence of a primary intraparenchymal tumour. These cases emphasise the need for repeated reassessment in patients with culture negative lymphocytic meningitis. In addition, this is the first report of FDG-PET scanning in leptomeningeal gliomatosis.

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia. Point mutations in the voltage-gated potassium channel gene KCNA1 on chromosome 12p associate with EA1. We have studied 4 families and identified three new and one previously reported heterozygous point mutations in this gene. Affected members in Family A (KCNA1 G724C) exhibit partial epilepsy and myokymia but no ataxic episodes, supporting the suggestion that there is an association between mutations of KCNA1 and epilepsy. Affected members in Family B (KCNA1 C731A) exhibit myokymia alone, suggesting a new phenotype of isolated myokymia. Family C harbors the first truncation to be reported in KCNA1 (C1249T) and exhibits remarkably drug-resistant EA1. Affected members in Family D (KCNA1 G1210A) exhibit attacks typical of EA1. This mutation has recently been reported in an apparently unrelated family, although no functional studies were attempted. Heterologous expression of the proteins encoded by the mutant KCNA1 genes suggest that the four point mutations impair delayed-rectifier type potassium currents by different mechanisms. Increased neuronal excitability is likely to be the common pathophysiological basis for the disease in these families. The degree and nature of the potassium channel dysfunction may be relevant to the new phenotypic observations reported in this study.

Benign childhood epileptic syndromes with occipital spikes: new classification proposed by the International League Against Epilepsy.

In a recent proposal, the Commission on Classification and Terminology of the International League Against Epilepsy recognized early-onset childhood epilepsy with occipital spikes (Panayiotopoulos type), differentiating it from the only other type of childhood epilepsy with occipital spikes previously accepted: late-onset childhood epilepsy with occipital spikes (Gastaut type). The importance of this newly recognized syndrome of benign childhood partial seizures is that it is very common-only 2.4 times less frequent than benign rolandic epilepsy, and of equally excellent prognosis. It is characterized by a unique seizure type comprising a combination of autonomic and behavioral disturbances, vomiting, deviation of the eyes, and often with impairment of consciousness that can progress to convulsions. These commonly last for more than 3 minutes and in one quarter of cases for hours. One or more of these symptoms can predominate or be absent. Eyes can remain open without deviation, ictal vomiting might not occur, and autonomic and behavioral disturbances can predominate, particularly in the early stages of the ictus, and be missed in nocturnal seizures. Age at onset is 5 years, with a singular or a median of three seizures, which are predominantly nocturnal. Interictal electroencephalography (EEG) frequently shows occipital paroxysms or occipital spikes but one-fifth of the cases have only extraoccipital spikes on normal EEG. Treatment might not be needed. Panayiotopoulos syndrome, like rolandic epilepsy, needs recognition by the general pediatrician because of the invariably excellent prognosis and also because it can be misdiagnosed as an acute cerebral insult.