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Biomedical subjects

L Fusco

Publications and source records attributed to L Fusco.

At least 19 recordsLinked to original sources
PubMed2003

Diagnostic imaging in 13 cases of Rasmussen's encephalitis: can early MRI suggest the diagnosis?

Rasmussen's encephalitis (RE) is a rare, progressive, chronic encephalitis characterised by drug-resistant epilepsy, progressive hemiparesis and mental impairment. It typically involves only one cerebral hemisphere, which becomes atrophic. We present neuroradiological findings in 13 children with RE. MRI was performed in all patients, fluorodeoxyglucose positron-emission tomography (PET) in three, Tc-99m hexamethylpropylenamine oxime single-photon emission computed tomography (SPECT) in two and proton MR spectroscopy ((1)HMRS) in two. MRI showed progression of the hemisphere atrophy, always prevalent in the region primarily involved (13 patients), spread of the abnormal signal in white matter (11) and cortex (10) and progression of atrophy of the head of the caudate nucleus (nine). Associated secondary changes were: atrophy of the contralateral cerebellar hemisphere (in four patients), the ipsilateral hippocampus (in five) and the brain stem (in five). The earliest CT and MRI abnormalities, seen between 1 day and 4 months after the first seizure (in 12 patients examined, nine of whom had MRI) in one cerebral hemisphere included: high signal on T2-weighted images in the cortex (seven patients) and white matter (nine), cortical atrophy usually involving the frontoinsular region, with mild or severe enlargement of the lateral ventricle (eight) and moderate atrophy of the head of the caudate nucleus (seven). Cortical swelling in the early stage of the disease was recognisable only in two patients. PET revealed hypometabolism, SPECT decreased perfusion, and (1)HMRS reduction of N-acetylaspartate in the affected hemisphere. PET and SPECT were usually performed in the late stages and did not provide specific findings. MRI thus demonstrates the progression of RE and may suggest the diagnosis in the early stages, often before the appearance of neurological deficits. Early diagnosis of RE may be crucial for selecting patients for aggressive medical therapy or major surgical interventions such as hemispherectomy.

Atrophy↗
PubMed2003

Rasmussen's encephalitis: early characteristics allow diagnosis.

OBJECTIVE: To identify early manifestations of Rasmussen encephalitis (RE) that can prompt early and reasonably secure diagnosis, allowing medical or surgical therapies at an early stage when they may be more effective in slowing the disease. METHODS: The authors studied 12 patients with clinical and neuropathologic diagnosis of RE, followed from disease onset, assessing clinical history, imaging, and EEG and focusing on early characteristics. Anti-GluR3 antibody assays were also considered in 11 patients. RESULTS: By 4 months from first symptoms, all cases had 1) refractory focal seizures with a predominant motor component, 2) slow focal activity on EEG contralateral to the motor manifestations, and 3) focal contralateral white matter hyperintensity with insular cortical atrophy on neuroimaging. Less constant or later findings were epilepsia partialis continua, oligoclonal bands, and serum anti-GluR3 antibodies. CONCLUSIONS: The association of partial seizures with focal EEG and neuroimaging changes allows a tentative diagnosis of RE 4 to 6 months after first symptoms.

Adolescent↗
PubMed2001

EEG discharges on awakening: a marker of idiopathic generalized epilepsy.

In a series of 24-hour ambulatory EEG recordings from 1,000 consecutive adult outpatients (44.5% with generalized and 55.5% with partial epilepsy, one recording per patient), the authors found only 46 (4.6%) activations of epileptiform discharges on awakening. All recordings came from patients with idiopathic generalized epilepsy, predominantly with juvenile myoclonic epilepsy and generalized tonic-clonic seizures on awakening. Multiple spike discharges that develop with an unusually delayed onset after arousal (more than 10 minutes) might help to discriminate juvenile myoclonic epilepsy.

Adult↗
PubMed2001

Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

Early-infantile epileptic encephalopathy (EIEE) with suppression-bursts is a severe neonatal epileptic encephalopathy. The etiology is multiple, with cerebral malformations as the more frequent. We review the clinical and video/EEG aspects of eight infants with EIEE. These infants, aged between 4 and 70 days at the time of video/EEG recordings, were studied in relation to their clinical and video/EEG characteristics, evolution, persistence of suppression-burst pattern and etiology. Seven of the eight infants showed an ictal clinical sign correlated to the burst of the suppression-burst pattern, four of whom died within 11 months of age. The other three are alive. One, now aged 4 years, underwent surgery for hemimegalencephaly and is seizure-free, with good neurological outcome. One, now aged 9 months, was pyridoxine-dependent and she is seizure-free, and with normal neurological evolution under pyridoxine therapy. One, now aged 3 years and 9 months, is seizure-free, but with severe neurological and cognitive impairment. The only child who did not show a clinical ictal correlation of burst is also alive, now aged 3 years and 9 months, with drug-resistant epilepsy, and severe neurological and cognitive deficits. With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. Our study confirms that EIEE is a severe age-dependent early epileptic encephalopathy. The etiology is mostly malformative. The prognosis is poor regarding motor and cognitive development, seizures, as well as life expectancies. The presence of an ictal burst of the suppression-burst pattern usually correlates with a negative outcome.

Brain↗
PubMed2001

Neurophysiology of spasms.

Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with spasms in West syndrome (WS) is a diffuse triphasic slow high-amplitude wave and less frequently a low-amplitude brief rapid rhythm. The origin of the spasm in WS and classification as either partial or generalized seizure are the subject of much discussion. Factors supporting partial origin include: interictal electroencephalography (EEG) characterized by multifocal anomalies; high incidence of focal cortical lesions and remission of spasms following surgical removal of focal lesions. Factors supporting generalized origin are: clinical involvement of the entire body; mostly generalized ictal EEG pattern; existence of idiopathic cases and possibility of spasms immediately following a partial seizure like a particular form of secondary generalization. In our opinion, the categories of 'partial' and 'generalized' seizures are not applicable to spasms in WS. Sometimes the spasms in WS can be observed together with other types of partial or generalized seizures. Polygraphic recordings have demonstrated that despite being clinically similar, each spasm is different from the other because of a variable sequence in muscular contraction. These data support the peculiar nature of the spasm in WS that could be a subcortical phenomenon that requires a cortical trigger.

Brain↗
PubMed1999

Benign myoclonus of early infancy.

Benign myoclonus of early infancy, first described by Fejerman and Lombroso, is a paroxysmal phenomenon of the first 2 years of life which occurs in neurologically healthy infants during wakefulness, and is usually triggered by excitement or frustration. We studied the neurophysiological features of the phenomenon in five children, aged 7 to 11 months, who were monitored by video-EEG recording, and by polygraphic recording in 3 of the 5 cases. The phenomenon is characterized by a shudder-type, paroxysmal motor manifestation involving mainly the trunk and sometimes the head, associated with tonic limb contractions of variable intensity, from hardly noticeable to more sustained. The EEG counterpart never showed modifications, the polygraphic study demonstrated a brief tonic limb contraction. The clinical manifestation should not be confused with the spasms of epileptic infantile spasms syndrome, or with tonic reflex seizures of early infancy. Although the phenomenon is already widely known, its polygraphic recording is rarely reported in literature. The polygraphic data of our patients contributes to the diagnosis and understanding of the pathophysiology of this paroxysmal manifestation.

Brain Mapping↗
PubMed1999

Repetitive sleep starts in neurologically impaired children: an unusual non-epileptic manifestation in otherwise epileptic subjects.

Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic-dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto-neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. Seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4-15 min and comprised from twenty to twenty-nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. Repetitive sleep starts should be recognized and clearly differentiated from epileptic seizures, especially if they appear in epileptic subjects. In neurologically compromised patients, they could represent an intensification of an otherwise normal event, due to the lack of strong inhibitory influence of the pyramidal tract resulting from the pyramidal lesion.

Cerebral Cortex↗
PubMed1995

Reflex myoclonic epilepsy in infancy: a new age-dependent idiopathic epileptic syndrome related to startle reaction.

Benign myoclonic epilepsy of infancy (BMEI) is an idiopathic disorder characterized by spontaneous myoclonic attacks with onset in the first 2 years of life. We observed 6 neurologically normal infants (aged 6-21 months) with attacks that resembled those of BMEI but that occurred as reflex responses to unexpected auditory and tactile stimuli. four infants also had rare spontaneous attacks. These reflex attacks consisted of isolated muscle jerks or clusters of up to eight symmetric limb jerks affecting mainly the arms. Five of the children had a family history of epilepsy or febrile convulsions. Myoclonic attacks disappeared in 4-14 months. In 3 patients, the jerks stopped spontaneously; the others responded to valproate (VPA). Myoclonus could be elicited in wakefulness and in sleep. Ictal EEGs showed brief generalized spike- or polyspike-and-wave discharges. Interictal EEGs were normal during wakefulness; during sleep, brief generalized discharges were evident. We propose that reflex myoclonic epilepsy of infancy (RMEI) is a new age-dependent idiopathic generalized epileptic (IGE) syndrome, with an apparently good prognosis.

Acoustic Stimulation↗
PubMed1995

Efficacy and tolerability of vigabatrin in children with refractory partial seizures: a single-blind dose-increasing study.

The efficacy and tolerability of vigabatrin (VGB) in children with refractory partial epilepsy were assessed in a single-blind, add-on, fixed-sequence, placebo-controlled trial. After 1-month observation, the patients entered a 7-month treatment period that involved administration of placebo for 1 month followed by VGB at the initial dosage of 40 mg/kg/day, to be increased to 60 and 80 mg/kg/day at 2-month intervals if seizures persisted. Of the 46 children enrolled in the study, 7 dropped out prematurely due to lack of efficacy of the drug (n = 6) or increased seizure frequency (n = 1). In 11 patients who either became seizure-free (n = 3) or improved markedly (n = 8), treatment was completed at a dose < 80 mg/kg/day. The average number of seizures per month in the 39 patients who completed the study decreased from 97 during placebo to 21, 12, and 9 after 2, 4, and 6 months of VGB treatments respectively (p < 0.0001 at each time). Response to VGB remained statistically significant when dropouts were included in the evaluation. The number of patients who had > 50% reduction in seizure frequency after 2, 4, and 6 months was 28, 33, and 35, respectively. Eight patients became seizure-free during the last 2 months of VGB treatment (3 at 40, 3 at 60, and 2 at 80 mg/kg/day, as compared with none during placebo treatment). Serum levels of associated antiepileptic drugs (AEDs) showed no significant changes, except for serum phenytoin (PHT) concentration, which significantly (p < 0.01) decreased after VGB treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Anticonvulsants↗
PubMed1994

Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene.

Benign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are two forms of familial convulsions having an age of onset within the first year of life. The gene responsible for BFNC has been mapped to chromosome 20q in the close vicinity of D20S19 and D20S20 markers. We performed linkage analysis between BIFC and D20S19-D20S20 in eight families in order to know whether the BFNC gene is also implicated in BIFC. Several apparent obligate crossovers between affected members were detected. The data here presented demonstrate that the BFNC gene is not responsible for BIFC.

Age of Onset↗
PubMed1993

Benign neonatal sleep myoclonus: clinical features and video-polygraphic recordings.

Benign neonatal sleep myoclonus is a syndrome characterized by the occurrence of repetitive myoclonic jerks of the extremities exclusively during non-rapid eye movement sleep in the early life of healthy newborns. No etiological factors are present. The onset is within the first 15 days of life with spontaneous disappearance within 3-4 months. These myoclonic events are commonly diagnosed as epileptic seizures. We observed 12 newborns with this clinical pattern; the follow-up ranges from 12 to 60 months. Long-term videopolygraphic electroencephalographic (EEG) monitoring demonstrated normal EEG activity, thus confirming that these unusual events were nonepileptic.

Brain Damage, Chronic↗
PubMed1992

Double cortex. A neuronal migration anomaly as a possible cause of Lennox-Gastaut syndrome.

Band heterotopia, or "double cortex," is a neuronal migration disorder that consists of a symmetrical subcortical neuronal band. The overlying cortex may be normal or macrogyric. We describe two severely mentally retarded girls, aged 14 and 18 years, who had band heterotopia and Lennox-Gastaut syndrome. Band heterotopia was evident in both hemispheres as a subcortical symmetrical layer isointense with gray matter on magnetic resonance T1- and T2-weighted images. Both patients had atonic seizures, atypical absences, and tonic seizures. The electroencephalograms in both cases showed frequent generalized paroxysms and slow background activity. The association of a Lennox-Gastaut syndrome with double cortex in these two patients and in a previously reported autopsy-confirmed case suggests that this malformation may be responsible for other similar cases.

Adolescent↗
PubMed1992

Benign infantile familial convulsions.

Five infants, three girls and two boys, first had convulsions between the ages of 4 and 6 months. Although the aetiology of the attacks was unknown, all the infants had a family history of similar convulsions occurring at the same age and having a benign outcome. The attacks, which always occurred in a cluster, were promptly controlled, in four cases with phenobarbital and in one case with valproate. Seizures were partial with secondary generalization and were characterized by head and eye deviation (not always the same side in each attack) diffuse hypertonia and then bilateral limb jerks. The interictal EEG was normal. The ictal EEG showed diffuse discharge with onset in the central-occipital region. Laboratory, radiological and neurological findings were normal. A history in at least one paternal relative (the father in four cases) of similar seizures, occurring at the same age suggested a genetic predisposition. No seizures or EEG anomalies were observed during the follow up.

Electroencephalography↗
PubMed1992

Epilepsia partialis continua and neuronal migration anomalies.

Neuronal migration anomalies commonly cause seizures that are partial in type and generally refractory to medical treatment. Epilepsia partialis continua (EPC), an unusual form of epilepsy commonly related to acute damage of the cerebral cortex or to a chronic lesion, has never been described in a patient with neuronal migration anomalies. In 50 children with epilepsy due to neuronal migration anomalies, we observed two cases of EPC. These two children had unilateral neuronal migration abnormalities with partial seizures other than EPC and contralateral hemiparesis. Epilepsia partialis continua appeared two to three years after the onset of partial attacks and was accompanied by a worsening of the children's previous hemiparesis. Although a rare seizure manifestation in children with neuronal migration anomalies, when it does appear, EPC can aggravate the clinical neurological condition and should always be investigated for in these cases. Because its clinical appearance is often subtle, as in these two children, EPC may easily remain undiagnosed.

Brain Diseases↗
PubMed1992

Hemimegalencephaly and normal intellectual development.

Hemimegalencephaly is a rare congenital malformation characterised by overgrowth of one hemisphere. Although it is commonly thought to be associated with neurological deficits, developmental delay, and intractable epilepsy, the clinical expression of hemimegalencephaly, can vary widely. This patient was neurologically and neuropsychologically normal apart from rare partial seizures.

Adult↗
PubMed1991

Reversible operculum syndrome caused by progressive epilepsia partialis continua in a child with left hemimegalencephaly.

In a child with left hemimegalencephaly and seizures, a reversible operculum syndrome developed when continuous epileptic discharges spread from the left hemisphere to the contralateral central regions. The operculum syndrome lasted for three months until left hemispherectomy was performed. Soon after surgery the seizures and the operculum syndrome resolved. The operculum syndrome is a facio-pharyngo-glosso-masticatory diplegia usually due to structural lesions in both opercular regions. The reversibility of the syndrome in the reported case demonstrates that the operculum syndrome is sometimes functional rather than lesional.

Cerebral Cortex↗