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Biomedical subjects

N Fejerman

Publications and source records attributed to N Fejerman.

At least 37 records · Page 2Linked to original sources
PubMed1997

[Idiopathic partial epilepsy with occipital paroxysms].

INTRODUCTION: Partial benign epilepsy of childhood with occipital paroxysms (EPBI-O) described by Gastaut in 1982, has been recognized in the latest Classification of Epilepsy and Epileptic Syndromes as being a form of idiopathic partial epilepsy. In 1989 Panayiotopoulos described a different form of idiopathic occipital epilepsy. OBJECTIVE: We analyzed the electro-clinical characteristics of EPBI-O in order to identify the different forms of idiopathic occipital epilepsy. MATERIAL AND METHODS: This prospective study included 74 patients who fulfilled the diagnostic criteria of EPBI-O. The patients were evaluated between January 1990 and June 1996 by means of clinical and electro-encephalic examinations during a follow-up period of between 6 months and 6.5 years. RESULTS: We identified two groups. Group I: eighteen patients with visual crises and post-ictal migrainous episodes, with or without motor crises, predominantly when awake and with the onset of these crises at 8.7 years old. On EEG there were P-O occipital paroxysms which reacted to eyelid opening and group II: fifty-six patients with crises of vomiting followed by oculo-encephalic version, predominantly during sleep and with an average age of 4.9 years when these crises started to occur. On EEG there were occipital spikes with identical morphology to that of the benign epilepsy of childhood with spikes of Roland (EPBI-R). Two patients had associated crises of EPBI-O of Group II and EPBI-R with independent occipital and Roland spikes. These formed a third group. CONCLUSIONS: This study confirms the existence of two variantes of EPBI-O; the 'Gastaut' type and the 'Panayiotopoulos' type with a more benign and more frequent course.

Adolescent↗
PubMed1997

[A particular type of epilepsy in patients with congenital hemiparesis associated with polymicrogyria or unilateral pachygyria].

INTRODUCTION: Magnetic resonance has permitted the recognition of cortical dysplasias in patients with congenital hemiparesia and epilepsy. OBJECTIVE: To study the clinic-EEG characteristics and course of epilepsy in patients with congenital hemiparesia and unilateral polymicrogyria. METHODS AND RESULTS: We analyzed the clinical histories of 11 patients seen between 1990 and 1996. We studied 6 girls and 5 boys aged between 5 and 13 years, with a follow-up period of from 1 to 6 years. The epilepsy began at between 1 and 6 years old with partial motor seizures. On EEG there were frontotemporal spikes in 9 cases, temporooccipital in 1 and parieto-occipital in another. All 11 patients had hemiparesia, with slight mental retardation in 9 patients and moderate mental retardation in 2. The CT/MR brain scan showed unilateral polymicrogyria. At between 2 and 8 years of age, all 11 patients developed subintrant atonic crises with a pseudo-ataxic gait, absences in 7 patients and myoclonia in 3. Awake EEG showed bilateral asymmetrical spikes. During sleep 7 patients had continuous spikewave discharges and 4 had frequent asymmetrical bilateral spikes. Four patients relapsed. Five patients are free of crises, five have sporadic crises and one continues to have daily crises. CONCLUSIONS: These patients had hemiparetic cerebral paralysis, slight mental retardation and epilepsy. At about the age of 6 a peculiar electro-clinical condition developed. Response to treatment was satisfactory, although the follow-up period is still not long.

Brain↗
PubMed1997

[West's syndrome in patients with cerebral paralysis and periventricular leukomalacia: a good response to treatment].

OBJECTIVE: To evaluate the therapeutic response of West's syndrome (WS) associated with cerebral paralysis (CP) secondary to periventricular leucomalacia (PVL). MATERIAL AND METHODS: We made a retrospective analysis of the clinical histories of 10 patients with SW and CP secondary to periventricular leucomalacia. We studied 10 patients, 9 boys and 1 girl with a current age of between 3 and 11 years, 8 premature newborn babies and two full term new born babies. RESULTS: The infantile spasms (IS) started between the ages of 4-10 months (average age 8.3 months). In 100% of cases they came in runs. In one patient alone they were associated with partial motor crises. EEG showed typical hypsarrhythmia in 8 cases, asymmetrical hypsarrhythmia in 1 case and modified hypsarrhythmia in another case. Seven patients were given ACTH, associated with valproic acid in 4 cases and benzodiazepines in 2 cases. The remaining 3 patients were treated with valproate as the only drug. The IS disappeared and the EEG became normal within 14 days of the start of treatment in 9 patients who remain symptom-free after between 2 and 11.9 years follow-up. In one patient there was partial control of the spasms, and the clinical picture cleared up 10 months after starting treatment with vigabatrine. All 10 patients had spastic quadriplegia. All had mental retardation of between slight and serious degree. The cerebral CT and MR showed signs compatible with PVL and in 3 cases there was associated diffuse cerebral atrophy. CONCLUSIONS: We have found a good electro-clinical response in 10 patients with WS, CP and PVL. The results are in agreement with those of other authors.

Anticonvulsants↗
PubMed1997

[Epilepsies during the first year of life].

OBJECTIVE: An important number of epileptic patients who began with epileptic seizures during the first year of life have not just been well classified. The objective is to identify the different types of epilepsies and epileptic seizures which begin during the first year of life, according to the last classification of epilepsy and epileptic syndromes of 1989. MATERIAL AND METHODS: We have studied 471 patients who consulted to our service in the last 5 years, with epileptic seizures during the first year of life. We excluded neonatal seizures and febrile convulsions. RESULTS: 1. Partial epilepsy: a) idiopathic: 12 (2.5%); b) symptomatic: 130 (28%); c) cryptogenic: 25 (5%). 2. Generalized epilepsy: a) idiopathic: benign myoclonic epilepsy in infancy, 6 (1%); b) cryptogenic-symptomatic: symptomatic West syndrome, 155 (33%); cryptogenic West syndrome, 65 (14%); cryptogenic myoclonic epilepsy, 6 (1%); early infantile epileptic encephalopathy, 8 (1.6%); early myoclonic encephalopathy, 4 (0.8%); other symptomatic generalized epilepsies without specific aetiology, 14 (3%). 3. Epilepsies and syndromes undetermined as to whether they are focal or generalized: a) severe myoclonic epilepsy in infancy, 15 (3%); symptomatic epilepsy with multifocal and independent spikes, 3 (0.6%); other undetermined epilepsies not defined above, 3 (0.6%). 4. Special syndromes: occasional convulsions, 15 (3%). CONCLUSIONS: West syndrome is the commonest type of epilepsy during the first year of life, particularly symptomatic West syndrome. Symptomatic partial epilepsies are in the second place in frequency. We identified 12 patients with idiopathic partial epilepsy, who full-filled clinical and EEG characteristics of a recently described epilepsy: benign infantile familial convulsions. The study showed the predominance of symptomatic epilepsy, generalized (represented by West syndrome) and partials. Finally 6% of the patients have a generalized epilepsy, cryptogenic or symptomatic, not defined in the classification.

Epilepsy↗
PubMed1996

Spastic paraparesis and sensory neuropathy.

A 12-year-old developed a slowly progressive spastic gait at the age of 3. A marked loss of pain and temperature sensations led to a mutilating acropathy starting at age 5. Electrodiagnostic studies revealed a symmetric, axonal, predominantly sensory neuropathy, and magnetic resonance imaging ruled out compression of spinal cord. Sural nerve biopsy disclosed a predominant involvement of unmyelinated and a global loss of myelinated fibers, particularly larger ones. Clinical, electrodiagnostic and pathological findings of this case most likely represent an example of the "Cavanagh's variant", an unusual but distinct entity within the hereditary sensory and autonomic neuropathies.

Biopsy↗
PubMed1996

Severe Guillain-Barré syndrome in childhood treated with human immune globulin.

Thirteen children with severe Guillain-Barré syndrome were treated with human immune globulin. Patients received a mean total dose of 1.9 gm/kg of human immune globulin for 2 or 5 days. To evaluate the relationship between the response to human immune globulin and electrodiagnostic findings, we compared the clinical outcome of 3 groups of children. The first group consisted of 9 children with electrophysiologic evidence of a mean amplitude of the compound motor action potentials larger than 10% of the lower limit of normal. The second group of 4 children had inexcitable motor nerves. Children in the second group required longer periods to improve one functional grade (mean 67.3 days vs 18.8 days) and to reach grade 2 (219 days vs 32.7 days). Moreover, children in the second group were more disabled after 3 and 6 months, and they all remained with distal atrophy and weakness after 7 months of follow-up. Furthermore, the outcome of children in the second group was no different from that of a historic control of 5 untreated children with severe Guillain-Barré syndrome and similar electrophysiologic findings. Human immune globulin treatment in children with severe Guillain-Barré syndrome is safe, easy to administer, and does not increase the number of relapses. Nevertheless, it does not seem to benefit children with low mean compound motor action potential amplitude.

Child↗
PubMed1996

[Atypical evolution of benign partial epilepsy in children].

Idiopathic localization-related epilepsies are summarized according to the current classification of the International League Against Epilepsy. The recognition of a distinctive idiopathic epileptic syndrome occurring in children and featuring ictal vomiting, partial motor seizures, and occipital spikes is emphasized. Atypical evolutions of benign partial epilepsy of childhood and status of BPECS. Acquired epileptic aphasia has also been correlated to BPECS, and all these syndrome (CSWS). Childhood epilepsy with occipital paroxysms may also evolve into CSWS and into clinical and EEG status. Differential diagnosis of BPECS includes children with fortuitous associations of BPECS with cerebral palsy and the occurrence of a clinicoelectroencephalographic phenotype of BPECS in children with progressive and nonprogressive structural brain pathologies. Childhood epilepsy with occipital paroxysms should be differentiated from cerebrovascular abnormalities mitochondrial myophathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and the syndrome of posterior cerebral calcifications, epilepsy, and celiac disease.

Adolescent↗
PubMed1995

Childhood neuronal ceroid-lipofuscinoses in Argentina.

We report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985-1993 in Argentina, whose population is predominantly of European descent. Twenty-four cases were late infantile Jansky-Bielschowsky (LINCL) and 6 were juvenile Spielmeyer-Vogt (JNCL). Sex ratio was female:male, 20:10. Age range and mean at onset and at diagnosis for the LINCL cases were 1-6 years, mean 3.1, and 2-11 years, mean 5.5, and for the JNCL cases, 5-9 years, mean 7, and 9-18 years, mean 13, respectively. Cases were referred for biopsy after neurological examination, and most included complete electrophysiological [electroencephalography (EEG) with photic stimulation, electroretinography (ERG), and visual-evoked potential (VEP)], neuroimaging, and neurometabolic investigation. NCL was the first suspected clinical diagnosis, followed by mitochondrial encephalopathy in some cases of recent onset. Except for 1 case, clinical findings were homogeneous in LINCL, characterized by refractive epilepsy, mental regression and progressive deterioration, ataxia, myoclonia, and visual loss. Abnormal VEP, ERG, and EEG, with polyphasic high-voltage spikes when photic stimulation was performed at low frequency, were observed. Visual impairment and retinitis pigmentosa were early manifestations in 4/6 JNCL, followed by mental abnormalities, motor deterioration, and myoclonic jerks, while 2/4 followed an atypical course. In both variants inheritance was autosomal-recessive. Five out of 27 families had more than 1 affected member, 3 of whom were included in our series. Diagnosis was initially performed in conjunctival biopsy in 3 cases, skin in 5, muscle in 17, and brain in 5, though most cases had a concomitant biopsy from another tissue including nerve, and there was a single brain autopsy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Acquired epileptic aphasia: neuropsychologic follow-up of 12 patients.

A study of specific neuropsychologic, neurolinguistic, and behavioral features of acquired epileptic aphasia or Landau-Kleffner syndrome was conducted in a group of 12 patients followed-up for 2-15 years (mean: 8 yr). Seventy-five percent had exhibited some language disturbance prior to acquired epileptic aphasia. Even when 9 patients had normal electroencephalographic findings in the long-term course of the disease, only 3 achieved normal language. No patient with persisting electroencephalographic abnormalities recovered normal or near normal language. The need to perform detailed neurolinguistic and neuropsychologic evaluations in the work-up and follow-up of children with acquired epileptic aphasia is stressed. An adapted neuropsychologic profile battery proved to be practical and objective for the follow-up of these patients.

Agnosia↗
PubMed1994

Medical treatment of Rasmussen's syndrome (chronic encephalitis and epilepsy): effect of high-dose steroids or immunoglobulins in 19 patients.

We treated 19 patients with Rasmussen's syndrome (chronic encephalitis and epilepsy)--a rare progressive disorder of unknown etiology causing focal epilepsy, hemiparesis, and intellectual deterioration--with intravenous immunoglobulins, high-dose steroids, or both, to control seizures and improve the end point of the disease. Ten of 17 patients receiving steroids, and eight of nine patients receiving immunoglobulins, had some reduction of seizure frequency in the short term. Improvement in hemiparesis was slight. The effect of these drugs in ameliorating the end point of the disease in the long term remains unknown, and further multicenter studies with standardized protocols are warranted.

Adolescent↗
PubMed1993

Acute "axonal" Guillain-Barré syndrome in childhood.

We identified 5 of 44 consecutive children (11%) with Guillain-Barré syndrome who had electrophysiologic evidence of severe reduction of the mean amplitude of the compound motor action potentials (mean CMAP amplitude < 10% of lower limit of normal). EMG studies revealed profuse fibrillation activity in distal and proximal muscles after 2 weeks of onset. We compared this group with 16 consecutive children with GBS prospectively evaluated over 1 year, all of whom presented a mean CMAP amplitude > 10% of lower limit of normal. Children in the first group were more likely to require assisted ventilation (60% vs. 6.2%) and were more frequently quadriplegic at the peak of their disability (80% vs. 18.7%). They also required longer periods to improve one functional grade (mean 63.6 days vs. 16.6 days) and to become ambulatory (mean 156 days vs. 17.6 days). Moreover, only the children in the first group had distal atrophy of four limbs after 1 year of follow-up. Severe reduction of the mean amplitude of the CMAPs in children with GBS identifies a subgroup of patients with axonal damage that produces more severe weakness and delayed recovery.

Action Potentials↗
PubMed1991

[Myoclonus and epilepsies in children].

The possible associations of myoclonic phenomena, progressive or non progressive encephalopathies and epileptic phenomena are reviewed with special emphasis on childhood. This leads to the following five groups of conditions: (1) myoclonus without encephalopathy and without epilepsy; (2) encephalopathies with non-epileptic myoclonus; (3) progressive encephalopathies with myoclonic seizures or epileptic syndromes (Progressive myoclonus epilepsies); (4) epileptic encephalopathies with myoclonic seizures; (5) myoclonic epilepsies. In the first group, which also includes physiological myoclonus, a more thorough description of "benign sleep myoclonus of newborn" and "benign myoclonus of early infancy" is given. Characteristic of group 2 are "Kinsbourne syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis problems with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed, meaning that "Progressive Myoclonus Epilepsies" are always in fact progressive encephalopathies presenting with myoclonic types of seizures or epileptic syndromes among other neurologic and psychologic signs and symptoms. Major and rare causes are reviewed. The term major is applied to typical features or to frequency, whereas rare causes include not only those what are rarely seen, but also some myoclonic variants of diseases which usually have different symptoms. The fourth group refers to severe epilepsies, mainly in infancy and childhood, which lead to mental retardation irrespective of their cause. The assumption is that diffuse and persistent epileptic activity may interfere with normal development of the higher cerebral functions. "West syndrome" and "Lennox-Gastaut syndrome" are the more representative examples and may present with myoclonic type of seizures, but they are not dealt with in detail here. Group 5 comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, such as "benign myoclonic epilepsy of infancy" and "juvenile myoclonic epilepsy", from those which are cryptogenic and carry a more cautious prognosis--i.e.: "cryptogenic myoclonic and myoclono-astatic epilepsies" and "Severe myoclonic epilepsy of infancy". Finally other epileptic syndromes usually not considered as myoclonic epilepsies, but presenting sometimes myoclonic seizures, are mentioned.

Brain Diseases↗
PubMed1984

[Benign myoclonus of early childhood].

In 1976/77 we presented a group of small infants starting between four and nine months of age with repeated jerks of head and arms. They showed no neurological abnormalities and several EEGs in each case were normal. The term "benign myoclonus of early infancy" was proposed. Differential diagnosis are discussed in this paper, as a larger personal series of 18 children with a follow-up during four to sixteen years is analyzed. Special emphasis is given to good prognosis of "benign myoclonus of early infancy" and the differences with cryptogenetic cases of West syndrome.

Diagnosis, Differential↗