Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.

A 7.5-year-old girl, with infantile neuroaxonal dystrophy (INAD), showed a gradual deterioration from 16 months; at age 5 years she was bedridden, with severe tetraplegia, strabismus, nystagmus and optic atrophy, and dementia. From age 5.5 years, she had paroxysmal tonic events. Videopolygraphic recordings disclosed two different kinds of motor events: (a) epileptic tonic seizures, in wakefulness and sleep, associated with autonomic changes and ictal EEG discharges; and (b) nonepileptic prolonged clusters of brief tonic spasms, without ictal modifications of the EEG. Both motor events were characterized by a minimal and clinically similar tonic contraction of the upper extremities. Video-polygraphic studies are mandatory for a correct paroxysmal event classification and treatment in INAD patients.

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.

Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment.

Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus.

BACKGROUND AND OBJECTIVE: Patients with cortical malformations often have intractable seizures and are candidates for epilepsy surgery. Within an unselected series of patients with various forms of cortical malformation, nine patients with multilobar polymicrogyria had electrical status epilepticus during sleep (ESES) accompanied by infrequent focal motor seizures. Eight patients also had intractable atonic drop attack seizures. Because ESES usually is accompanied by a good long-term seizure prognosis, the objective of this study was to examine ESES outcome among patients with a structural lesion that is usually highly epileptogenic and has a low seizure remission trend. METHODS: The nine patients had follow-up periods lasting 4 to 19 years. All underwent brain MRI, serial sleep EEG recordings, and cognitive testing during and after ESES. RESULTS: ESES and drop attack seizures appeared between the ages of 2 and 5 years (mean, 4 years) and ceased between the ages of 5 and 12 years (mean, 8 years). At the last visit patients were 8 to 23 years of age (mean, 14.5 years) and were either seizure free or had very infrequent focal motor seizures during sleep. Three patients were free from antiepileptic drugs. In no patient was definite cognitive deterioration apparent after ESES in comparison with earlier evaluations. CONCLUSIONS: Age-related secondary bilateral synchrony underlying ESES may be facilitated in multilobar polymicrogyria. The good seizure outcome contrasts with that usually found in the presence of cortical malformations. For children with polymicrogyria and drop attack seizures, surgical treatment of the epilepsy should be considered cautiously, and sleep EEG recordings should be performed systematically.

Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures.

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared. Video-EEG sleep recordings revealed the clinically unsuspected serial recurrence of oromotor seizures, probably related to the clinically observed aggravation of dysarthria. New surgical techniques, in addition or alternative to callosotomy, should be developed in order to avoid or reduce the risk of aggravating some types of partial seizures in patients with bilateral cortical displastic lesions, intractable epilepsy and epileptic falls.

Treatable partial epilepsy and unilateral opercular neuronal migration disorder.

Five patients with treatable partial epilepsy and unilateral opercular neuronal migration disorder (NMD) are reported. Outcome was considered favorable when seizure control was prompt and complete with appropriate antiepileptic drug (AED) therapy, and when there was no relapse after AED discontinuation. Minor cortical sensorimotor defects were noted in 4 patients. All had normal mental status. No epileptic discharges were observed in the EEG of 4 patients, but rolandic spikes were observed in 1. The electroclinical and evolutive features suggested partial idiopathic epilepsy in 2 patients. Cases with focal neuronal migration disorders and favorable epilepsy outcome are probably more common than has been reported previously. The extent and location of the underlying microscopic lesions associated with the radiologically detectable cortical dysplasia may influence clinical outcome.

Occipital lobe seizures related to clinically asymptomatic celiac disease in adulthood.

We report the electroclinical ictal findings of four epileptic patients with clinically asymptomatic celiac disease (CD). Celiac disease diagnosis was suspected by past history and/or computed tomography (CT) findings in all patients and confirmed by laboratory tests and jejunal biopsy. All patients had paroxysmal visual manifestations and ictal EEG discharges arising from the occipital lobe. Epilepsy evolution was favorable in two patients and severe in 2, regardless of CT evidence of occipital corticosubcortical calcifications in 2 patients. Occipital lobe seizures may be characteristic of the epilepsy related to CD, and epileptic patients with these seizures of unknown etiology should be carefully investigated for malabsorption. If past history and/or laboratory tests suggest gastrointestinal (GI) dysfunction they should also undergo small intestinal biopsy even if they do not have GI tract symptoms.

Unilateral opercular macrogyria and benign childhood epilepsy with centrotemporal (rolandic) spikes: report of a case.

An 18-year-old mentally normal epileptic boy had frequent left brachiofacial or unilateral motor seizures which started at age 4 years and ceased 10 years later. Seizures were exclusively sleep-related. No relapse followed antiepileptic drug (AED) discontinuation. Left arm slight paresis and left hand astereognosia occurred at age 10 years. Awake EEGs showed persistent right rolandic discharges increased by sleep. Somatosensory evoked potentials (SEPs) were giant with left median nerve stimulation. Computed tomography (CT) and magnetic resonance imaging (MRI) disclosed right opercular macrogyria. We suggest that the structural brain lesion was causally related to his "idiopathic" partial epilepsy. Similar case reports and pathologic studies will elucidate the morphologic substrate of the underlying functional disorder in idiopathic partial epilepsies.

Antiepileptic drug treatment of benign childhood epilepsy with rolandic spikes: is it necessary?

Ten untreated and 20 treated patients with benign childhood epilepsy with rolandic (centrotemporal) spikes (BERS) were studied retrospectively after recovery. Seizure frequency, seizure recurrence, and duration of active epilepsy were similar in both groups. No differences were found in social adjustment. Antiepileptic treatment may be unnecessary in most cases of BERS.

[Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study, and biopsy of a case]. / Epilessia mioclonica progressiva familiare associata ad amiotrofia bulbo-spinale. Studio clinico, elettrofisiologico e bioptico di un caso.

Two brothers with Progressive myoclonic epilepsy and Juvenile bulbar and spinal atrophy had clinical, neurophysiological study and muscle biopsy. The EEG and polygraphic findings included progressive slowing of the background activity, spontaneous fast generalised spike- and wave discharges and photosensitivity. The EMG revealed pathological spontaneous activity as well as motor unit potentials diminished in number and increased in amplitude and duration; while VDCS and VDCM were normal. Results of muscle biopsy showed no represented "ragged red fibers" with the modified Trichrome stain, while grouped small caliber angular fibers of both histochemical type were visible with the myofibrillar ATPase reaction, but type 2 fibers predominated amongst the atrophic ones. Serum and urine metabolic measurement and lysosomal enzyme activities in leukocytes were all normal. We feel that the reported case might represent a familial syndrome not previously recognized showing non-specific degenerative changes with neuropathological examination. This disorder is similar only to the case reported by Lance J.W. and Ewans W.A. in 1984 "Progressive myoclonic epilepsy, nerve deafness and muscular atrophy".

Orthostatic tremor: essential and symptomatic cases.

We studied clinically and electrophysiologically 8 patients affected by orthostatic tremor (OT), which is an unusual movement disorder consisting of shaking movements of the legs and trunk in the standing position. We failed to find any cause in 6 of the 8 cases. In 2 patients OT was clearly secondary to neurologic disease: hydrocephalus due to non-tumoral aqueduct stenosis and chronic relapsing polyradiculoneuropathy. The findings obtained suggest a relationship between OT and essential tremor (ET).

Binswanger's disease: a review of the literature and a personal contribution.

Binswanger's disease is the name which has been given to a form of subcortical vascular dementia. These patients have a particular clinical profile which progressively includes strokes, gait disorder, pseudobulbar signs and cognitive impairment suggesting dysfunction of the prefrontal cortex. The radiological pattern of hypodensity of the white matter on CT scan (or an increased MRI signal), albeit much debated, seems to be more closely associated with hypertension, previous strokes and neuropsychological defects. Binswanger's disease probably represents the end stage of a pathological process in which hypertensive arteriolopathy, demyelination of the centra semiovale and deep infarcts all play a role.

Marfan's syndrome, recurrent complex partial status epilepticus and myoclonus: a case report.

A 26 year-old mentally retarded woman suffering from Marfan's syndrome and epileptic seizures presented weekly recurrent complex partial status epilepticus for two years, and myoclonus at rest. A marked increase of the myoclonic jerks and transient signs of cerebellar dysfunction followed each occurrence of the status epilepticus. Myoclonus could be interpreted as: 1) a permanent neurologic consequence of primary CNS disorders or secondary to disorders of the connective tissue, 2) a persistent post-ictal sequela sustained by recurrence of complex partial status, or 3) an additional consequence of both brain disorders due to Marfan's syndrome and recurrence of complex partial status epilepticus. The case report raises the possibility that recurrence of complex partial status for a long period may be a risk factor of permanent neurologic deficit, especially in already brain damaged patients.

Double-blind study of vigabatrin in the treatment of drug-resistant epilepsy.

Thirty-one patients with severe drug-resistant epilepsy entered the study. Vigabatrin (2 to 3 g/d, stratified according to weight) and placebo were administered orally, as add-on therapy in random order under double-blind conditions, each for three months using a crossover design. Thirty patients completed both periods. Of these, ten patients (33%) showed a decrease in seizure frequency of 50% or more. In the 15 patients presenting with complex partial seizures, "temporal" electroencephalographic abnormalities, and relatively low seizure frequency, there was a significant reduction in seizure frequency during vigabatrin treatment. No significant treatment effect was found for the remaining 15 patients, who presented with mixed seizure types, multifocal electroencephalographic abnormalities, and high seizure frequencies. Tolerability to vigabatrin was good; the most frequently reported unwanted effect was drowsiness. Plasma concentrations of phenytoin showed a significant reduction during the vigabatrin period. The results demonstrate the efficacy and good tolerability of vigabatrin therapy in patients with severe complex partial epilepsy.

Predictive factors of seizure frequency and duration of antiepileptic treatment in rolandic epilepsy: a retrospective study.

Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 patients (15%) with a single seizure: Group II, 40 patients (56%) with 2 to 6 seizures; Group III, 21 patients (29%) with over 6 seizures. Significant predictors of rare seizure frequency were: presence of convulsive generalized seizures as the sole ictal manifestation, found in 17 patients of Group II and in one patient of Group III (p less than 0.001), and longer average interval between first and second seizure in Group II than in Group III (7.8 months versus 3.5 months, p less than 0.0001). Although the average duration of the disease was significantly shorter in Group II than in Group III (1.5 years versus 4.5 years, p less than 0.00001), the duration of the antiepileptic treatment was similar in both groups. Of the 8 untreated patients, 5 had a single seizure and one had 2 seizures. Therefore, it is suggested that antiepileptic treatment be delayed without risk until the third seizure occurrence and restricted to patients with no predictor of rare seizure recurrence.

Post-ictal gustatory hallucination, sleep related microspikes and glioma of the sylvian region: report of a case.

A 32 year old man affected by grade 1 astrocytoma of the right sylvian region and epileptic seizures, presented gustatory hallucinations as a post-ictal symptom. Spikes of very low voltage during sleep were the only epileptic abnormalities found on his EEG. It is suggested that post-ictal as well as ictal gustatory hallucinations may be a localizing symptom of glioma involving the sylvian region. Furthermore, if systematically searched for, sleep related microspikes may become an EEG sign useful for the diagnosis of brain tumour in patients with epileptic seizures and no epileptic discharges on the awake EEG.

Drop attacks: an ominous change in the evolution of partial epilepsy.

We studied 16 patients with partial epilepsy and drop attacks. The drop attacks appeared 1 to 29 years after onset of epilepsy; 15 patients had these attacks weekly or daily, despite therapy. After the appearance of drop attacks, 6 patients had severe mental disorders, and social life was disrupted in 13. There was a high rate of adversive seizures, atypical absences, and diffuse spike-wave discharges in the EEG, electroclinical features that suggest a frontal origin of epilepsy. Drop attacks are ominous because they occur so frequently, resist therapy, are physically dangerous, and portend personality change.

Familial amyloid polyneuropathy: report of a family.

We report an Italian family affected by familial amyloid polyneuropathy. In two siblings, the diagnosis was confirmed by skin biopsy which revealed an unusual involvement of cutaneous nerves. Immunohistochemical studies confirmed the presence of prealbumin in the amyloid deposits.