[Clinico-electroencephalographic evaluation of the anti-epileptic action of a new series of benzodiazepine derivatives].
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Administration, Oral↗
Biomedical subjects
N Fejerman
Publications and source records attributed to N Fejerman.
[Phenylketonuria. Presentation of 10 cases].
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Adolescent↗
Early myoclonic epileptic encephalopathy (E.M.E.E.).
The authors describe the electroclinical aspects and evolution of nine cases of myoclonic epileptic encephalopathy which began between two days and ten weeks of life. At onset it is associated with: myoclonic jerks, partial fits and periodic paroxysmal EEG abnormalities. Repeated spasms coexisting with partial fits and 'suppression-bursts' (both appearing later) complete the electroclinical picture. The neurological status (initially normal) progressively deteriorates leading within a few months to a decerebrate posture with opisthotonos. In spite of thorough neuroradiological, biochemical, cytological, metabolic, and ultrastructural investigations, the etiology remained unknown. However, the electroclinical and evolutive patterns are similar to those of some metabolic diseases (Polyodystrophy, Non-Ketotic Hyperglycinemia, etc.). All these observations display a homogeneous electroclinical pattern for which the authors propose the name of Early Myoclonic Epileptic Encephalopathy. This type deserves to be classified as a particular electroclinical entity among the epileptic encephalopathies of the first year of life; since its course is regularly downhill in all cases there may be a familial recurrence due to the possibility of a metabolic etiology.
Age Factors↗
Myoclonus and epilepsies.
The possible associations of myoclonic phenomenae, progressive or non-progressive encephalopathies and epileptic features are reviewed, with special emphasis on pediatric age. This leads to recognize the following five groups of conditions: (1) Myoclonus without encephalopathy and without epilepsy; (2) Encephalopathies with non-epileptic myoclonus; (3) Progressive encephalopathies presenting myoclonus seizures of epileptic syndromes (Progressive myoclonus epilepsies); (4) Epileptic encephalopathies with myoclonic seizures; (5) Myoclonic epilepsies. Within the first group, which also includes physiologic myoclonus, a more thorough description of "Benign sleep myoclonus of newborn" and "Benign myoclonus of early infancy" is given. Characteristics of group 2 are "Kinsbourne Syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed. The fourth group refers to severe epilepsies, mainly on infancy and childhood, which lead to mental retardation irrespective of their aetiology. Group 5 comprises the 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--as "Cryptogenic myoclonic and myoclonoastatic epilepsies" and "Severe myoclonic epilepsy of infancy". Other epileptic syndromes not usually considered as myoclonic epilepsies, but presenting sometimes as myoclonic seizures, are finally referred.
Adolescent↗
Intracranial tumors and West syndrome.
Two infants, 6 and 7 months of age, are reported with both West syndrome and cerebral tumors. In both patients, initial neurologic examinations were normal and tumor diagnoses were determined through routine imaging studies. Initial response to adrenocorticotrophic hormone treatment did not differ from that observed in patients with cryptogenic West syndrome. Early treatment of West syndrome and resection of tumor, when possible, may offer successful treatment of patients with both benign brain tumors and West syndrome.
Adrenocorticotropic Hormone↗
Status epilepticus of benign partial epilepsies in children: report of two cases.
Benign partial epilepsies of childhood (BPEC) are one of the most frequent types of epilepsy in school-age children. Status epilepticus (SE) of these conditions have not yet been reported. Two children with clinical and EEG features consistent with the diagnosis of BPEC-SE are presented. In neither case did SE respond to current antiepileptic medications and stopped only after administration of steroids. At follow-up 1 and 2 years post SE, neurologic and intellectual development have been normal. Differential diagnoses included an atypical benign partial epilepsy, epilepsy with electrical status epilepticus during slow sleep, acquired epileptic aphasia, Lennox-Gastaut syndrome and epilepsia partialis continua.
Anticonvulsants↗
Neurofibromatosis type one and West syndrome: a relatively benign association.
Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were successfully stopped several years later. Mental outcome was also very good. The association of both conditions does not seem to be a coincidence. WS with NF1 seems remarkably benign and resembles idiopathic WS more than symptomatic WS.
Adrenocorticotropic Hormone↗
[Benign partial convulsions in adolescence].
INTRODUCTION: Loiseau and Orgogozo first described benign partial convulsions of adolescence (BPCA). OBJECTIVE: To analyze the clinical and electroencephalographic characteristics of adolescent patients diagnosed as having BPCA. PATIENTS AND METHODS: We reviewed the clinical histories of 125 patients with onset of partial epilepsy between the ages of 10 and 18 years, followed-up at the J.P. Garrahan Hospital, Buenos Aires, between 1990 and 1997. Fourteen of these patients fulfilled diagnostic criteria for BPCA. We analyzed the following clinical and electroencephalographic parameters: sex, personal and family history, age of onset, semiology, distribution, duration and frequency of crises, neurological examination, neuro-images (brain CT/MR) using conventional techniques, time of follow-up and evolution. RESULTS: Ten patients were boys (71.4%) and four girls (28.6%). The follow-up period was from one to seven years (average 3.1 years). Convulsions had started at between 10 and 16 years old, average 12 years old, with a peak of maximum incidence at between 12 and 13 years old. The crises were of partial simple type in 12 patients (85.7%) and partial complex type in 2 (14.3%); nine cases had secondarily generalized tonic-clonic convulsions (64.2%). Crises were brief in 100%, in 13 cases (93%) they occurred whilst awake and in one case (7%) during sleep. CONCLUSIONS: BPCA occur in a transient condition which affects males more often than females, has a peak onset at between 12 and 13 years of age and is characterized by simple motor partial crises, frequently with secondary generalization, single or inclusters, during waking and is of a benign course. Neurological examination, EEG between crises and neuro-radiological studies were normal.
Adolescent↗
[Cerebral magnetic resonance in the study of West syndrome].
INTRODUCTION AND OBJECTIVE: West's syndrome (WS) is an epileptic encephalopathy of the first year of life, associated with different aetiologies. MRI of the brain allows precise determination of the type and extent of the lesions. The aetiology must be recognised in order to establish the prognosis and a suitable therapeutic approach. The objective of this study is to analyse the aetiologies of a population of children with WS and compare the results of cases diagnosed before and after using MRI. PATIENTS AND METHODS: We analyzed the clinical histories of 448 patients fulfilling the diagnostic criteria for WS (infantile spasms and a EEG with a pattern of hypsarrhythmia), 217 in pre-MRI era (group 1) and 231 in the post-MRI era (group 2). The following parameters were analyzed: type of WS, sex, duration of follow-up, age of onset of infantile spasms and particularly the neuroradiological studies. RESULTS: Group 1: symptomatic WS, 157 patients; cryptogenic WS, 60 patients. Group 2: symptomatic WS, 169 patients; cryptogenic WS, 62 patients. The aetiologies of symptomatic WS were: cortical dysplasias, neurocutaneous disorders, cerebral malformation and prenatal clastic lesions, hypoxic ischaemia, post-infection, metabolic, tumors, Down's syndrome, others and unknown cause. CONCLUSIONS: It is known that cerebral MRI gives better definition of these types of cerebral lesions than cerebral CT does. We emphasize the importance of MRI in patients with symptomatic WS for precise determination of the aetiology, and speculate as to whether some of the 21 cases of unknown aetiology of group 1 could have been diagnosed if studied nowadays.
Adolescent↗
[Congenital mirror movements. Three new cases of a rare condition].
INTRODUCTION: Mirror movements (MM) are involuntary shudders which occur at the same time as voluntary movements of the homologous contralateral muscles. They may occur alone or associated with other pathology. CLINICAL CASES: We present three new cases of congenital MM (CMM) and discuss their clinical, physiopathological and genetic aspects. Case 1. A four year old boy was brought to the clinic because he dropped things held in one hand when he tried to take things with the other. On examination it was seen that when he made a voluntary movement with one hand, the other hand made a similar movement simultaneously and involuntarily. This phenomenon had been observed since he was a few months old. Apart from this, the rest of the neurological examination was normal. Cerebral MR was also normal. Neuropsychological assessment showed borderline intellectual function. Case 2. The first patient's father, who was 26 years old, knew no details of his own family history. Since childhood he had noticed that he himself had made similar movements to those of his son. However, with time, he had managed to partially control and even inhibit these movements. His cerebral MR scan was normal. Case 3. An 11 year old boy consulted for MM, non-fluctuating congenital palpebral ptosis and nocturnal enuresis. The neurological examination and his intelligence were found to be normal. One of his sisters had palpebral ptosis and nocturnal enuresis without MM. His cerebral MR, X-ray of his spine, EMG, electroretinogram, CPK, blood lactate, glucemia, urine and urological examination were normal. CONCLUSIONS: MM may be another manifestation within the clinical spectrum of diverse encephalopathies; may be associated with different syndromes (Kallman, Klippel-Feil and Usher amongst others) or may present alone. Both familial and sporadic cases have been described. We consider our cases 1 and 2 to be of the familial CMM condition, with autosomal dominant inheritance, in which MM was the only finding. The association observed in case 3 has not previously been described. It may possibly be a condition transmitted by autosomal recessive inheritance.
Adult↗
[Acquired epileptic aphasia].
OBJECTIVE: To evaluate clinical and EEG features, as well as treatment and progression in fifteen patients with a diagnosis of acquired epileptic aphasia. PATIENTS AND METHODS: The population comprised nine male and six female patients, whose mean age was 14.5 (r = 8.11-20 years). All were on routine antiepileptic drugs. Inclusion criteria were acute, subacute or chronic aphasia, lacking signs of motor deficit or demonstrable brain lesion, but displaying bilateral spikes or generalized spike-wave discharges. Throughout, sleep and waking EEG, neuroimaging, brainstem auditory evoked potentials and neuro-psychological evaluations were performed. Cortical brainstem auditory evoked potentials were carried out in ten cases. RESULTS: Median age at onset of verbal auditory agnosia was 5.6 years (r = 1.1-8.6 years), which eleven cases developed epileptic seizures at a median age of five years. Waking and sleep EEG were abnormal but brainstem auditory evoked potentials were normal throughout. Cortical brainstem auditory evoked potentials in ten patients displayed P300 wave and vertex potential alterations. Five cases received 1-3 mg/kg/day prednisone during 6-12 months, with almost complete speech recovery in four. At the last follow-up, language impairment was mild in five patients, moderate in five and severe in three, while two children recovered normal speech. CONCLUSIONS: Early acquired epileptic aphasia treatment is advisable with valproic acid, benzodiazepines or ethosuximide alone or in combinations, supplementary with corticoids for at least six months in the absence of clinical response and/or EEG improvement. Globally, seven out of fifteen patients overcame their speech disorder.
Adolescent↗
[Atypical evolutions of benign partial epilepsy of infancy with centro-temporal spikes].
OBJECTIVES: To stress that different atypical evolutions occur in the course of disease in some patients with the so called benign partial epilepsies of childhood (BPEC). To promote interest in finding clinical and/or electroencephalographic clues to recognize which patients might be prone to present these risks. METHODS: Follow up of 26 pediatric patients who started with typical clinical and EEG features of benign childhood epilepsy with centro-temporal spikes (BCECTS) but presented reversible or persistent serious epileptic events including status epilepticus and language, cognitive or behavioral impairments. Repeated neurological examinations, EEG records and neuropsychological evaluations were done in the course of up to 14 years. Brain imaging studies (CAT and/or MRI) were obtained in all patients. RESULTS: Four groups of patients were recognized: 11 children with atypical benign partial epilepsy of childhood (ABPEC) followed during 4 to 13 years. All have finally recovered and attend normal schools, although five have learning difficulties. Three patients met diagnostic criteria for Landau-Kleffner syndrome (LKS). Two of them recovered from aphasia and in one, some language difficulties persist. Seven children showed status epilepticus of BCECTS but all of them are now normal after 3 to 14 years of follow-up. Five children showed mixed features of the three groups mentioned above and three of them fulfilled the criteria for diagnosis of the syndrome of continuous spike-wave during slow sleep (CSWS). CONCLUSIONS: A small proportion of cases starting with BCECTS evolve into either ABPEC, LKS, status of BCECTS or the syndrome of CSWS. Then, BCECTS is not always benign. Clinical and EEG markers should be sought to predict these atypical evolutions.
Anticonvulsants↗
[Polyneuropathy in critically ill patients: a seldom recognized cause of dependence on mechanical ventilators].
INTRODUCTION: Neuromuscular complications, in a critical care unit, are a cause of morbidity in children and prolonged dependence on a mechanical ventilator. Polyneuropathy of the critical patient is such a complication and is seen in patients on mechanical respiratory assistance. OBJECTIVE: To discuss the neurological and electrophysiological clinical findings of polyneuropathy of the critical patient. CLINICAL CASE: We evaluated four patients who initially required mechanical respiratory assistance, three for lung disorders and one for acute encephalopathy, who developed prolonged dependence on mechanical ventilators in the year 1999. In all these patients electromyography showed primary axon nerve disorders with secondary demyelination of all four limbs and phrenic nerve involvement. CONCLUSIONS: Clinical suspicion and use of suitable electrophysiological techniques permits identification of this condition in the severely ill paediatric patient. Better recognition of the condition and investigation of the etiological factors would help to develop suitable measures for prevention and treatment.
Atrophy↗