Showing papers by "Natalio Fejerman published in 1998"

Nerve biopsy in children with severe Guillain-Barré syndrome and inexcitable motor nerves

Abstract: The presence of inexcitable motor nerves early in the course of Guillain-Barre syndrome (GBS) identifies a subgroup of patients with more severe disease and delayed recovery. How frequently these electrodiagnostic findings reflect a primary axonal attack ("axonal" GBS) is controversial. We present two children with severe acute GBS, delayed recovery, and residual disability despite early treatment with human immunoglobulin. They had inexcitable motor nerves at days 6 and 7, and profuse fibrillations and positive waves on subsequent studies. Clinically and electrodiagnostically, both children's disease resembled the acute motor-sensory axonal variant of GBS (AMSAN). Sensory and motor nerve biopsies revealed severe macrophage-associated demyelination with axonal degeneration of variable severity. We conclude that clinical and electrodiagnostic features cannot discriminate between the "axonal" and demyelinating GBS. Early and severe demyelination with secondary axonal damage may mimic clinically and electrophysiologically the AMSAN variant of GBS.

Benign neonatal sleep myoclonus

Abstract: Objective To evaluate the clinical, electro-encephalographic and evolutionary characteristics of a series of patients diagnosed as having benign neonatal sleep myoclonus (BNSM). Material and methods The clinical histories of 21 patients with BNSM were analyzed. Criteria for inclusion in the study were: neonates who had had more than one episode of myoclonia during sleep and in whom neurological examination and psychomotor development were normal. CRITERIA FOR EXCLUSION: Patients with myoclonia while awake, a perinatal history which included significant pathology and/or the diagnosis of epilepsy. The period of evolution varied from 6 months to 5 years, and the following parameters were considered: clinical features of the myoclonia, neurological examination, psychomotor development and evolution. EEG were done between crises in all patients. In 5 cases we recorded EEG during crises and in 2 cases video-EEG were done. Results The study group was made up of 11 girls and 10 boys. The myoclonia started between the first and twenty third day of age (average = 7 days). Fifteen (71.4%) of the patients had generalized myoclonia, mainly in the distal part of the upper limbs in 13 and in the lower limbs in two. In 20 cases (95.2%) jerking was of short duration, lasting 10 to 20 seconds. In one case, the jerks were repeated in series lasting 30 minutes. Two patients later developed benign myoclonia of early infancy. The myoclonia disappeared before the age of 7 months in all cases. Conclusions BNSM is seen in healthy newborns and disappear spontaneously during the first months of live. Differential diagnosis with epileptic seizures is imperative in order to avoid unnecessary medication.

[Symptomatic West's syndrome: specific etiological link to unexpected response to treatment].

Abstract: Introduction It has been known that patients with symptomatic West Syndrome (WS) generally show poor responses to classic treatment, either steroids or antiepileptic drugs (AED). However new evidences arose in the last few years showing that particular association of WS with Down Syndrome (DS), type 1 Neurofibromatosis (NF1) and cerebral palsy (CP) with periventricular leukomalacia (PL) tend to behave as cryptogenic or idiopathic cases showing control of infantile spasms (IS) and disappearance of hypsarrhythmia after treatment. The special case of vigabatrin as treatment for IS in babies with Tuberous Sclerosis is also an example. Material and methods We studied 15 patients with WS and DS with a follow-up of 1.5 to 9 years, 5 patients with WS and NF1 followed-up form 2 to 6 years and 10 patients with WS associated with CP and PL followed-up during 2.5 to 12 years. Seizures frequency, EEG and responses to treatment were evaluated. Results 1. WS and DS: IS had onset at a mean age of 6.5 months. No other type of seizures was registered. EEG showed typical hypsarrhythmia in 12 cases and asymmetric hypsarrhythmia 3. IS disappeared and EEG were normalized after 15 days of treatment in 10 patients and after 6 months in other 4 patients. Three patients presented myoclonic seizures and one motor partial seizures during follow-up, all of them responding to AED. 2. WS and NF1: Onset of IS took place between 4 and 9 months of age. EEG were hypsarrhythmic in all 5 patients. Four of them were seizure free after usual steroids treatment and showed no relapse during follow-up. 3. WS and CP associated with PL: These were 9 males and 1 female with IS starting at a mean age of 6.5 months, without history prior seizures. All EEG showed hypsarrhythmia. IS stopped and EEG became normal during the first month of treatment in 9 patients. In the other one the IS arrested with the use of vigabatrin 10 months after onset. Conclusions Patients with these particular etiologies associated with WS do not behave as the usual symptomatic cases of WS in their response to classic treatment of IS. In fact the control of IS and normalization of EEG had been as good or better than in cases of cryptogenic WS. Care should them be taken not to generalized the usual concept about poor prognosis of WS in the so called symptomatic cases.

[Ketogenic diet: efficacy and tolerability in childhood intractable epilepsy].

Abstract: Introduction Prospective study to evaluate efficacy of ketogenic diet (KD) in the treatment of children with intractable epilepsies (IE). Tolerability of the KD was also considered. Material and methods Criteria for inclusion were: 1. Epilepsy refractary to treatments with antiepileptic drugs (AED) in monotherapy and combining two or three AED. 2. Acknowledgment of blood levels of these drugs in therapeutic range. 3. Absence of liver or kidney disease, metabolic abnormalities, inborn errors of metabolism or other progressive encephalopathies. 4. Family supposedly in economic and psychologic conditions to accept the difficulties of strictly maintaining KD. We used a classic KD following the criteria suggested by the John Hopkins Pediatrics Epilepsy Center. Baseline neurological and physical examination, EEG, blood chemistry including lipid profile were obtained prior to initiative and during the KD. KD efficacy was measured as percent reduction of baseline seizures frequency, considering positive results as reductions of 50% or over. Acceptance of the diet and quality of life were specially considered. Eighteen patients with ages from 2 to 11 years were admitted. Ten of them were males. Diagnosis followed the last Classification of Epileptic Syndromes of the ILAE, and distribution was: Symptomatic partial epilepsies, 8 cases (one had West syndrome at age 5 months); cryptogenic partial epilepsies, 1 case; Lennox-Gastaut syndrome, 2 cases; severe myoclonic epilepsy of infancy, 6 cases and epilepsy with myoclonic astatic seizures 1 case. Results Four patients were not able to achieve persistent ketosis either due to patient's rejection of KD or to parents non compliance. KD was kept for at least two months before considering failures. Five patients did not show significant improvement and KD was stopped. At present nine patients have been on KD from 6 to 24 months (average 16 months). Four of them showed a 75-100% reduction in seizures frequency and in three the reduction was of 50-75%. Conclusions KD was fairly well tolerated by 14 of 18 children and their families. Fifty percent of the 14 patients complying KD showed significant improvement in seizure frequency and in quality of life. Due to the small number of patients and short follow-up, we can not speculate about results in relation to each epileptic syndrome, neither the risk of late complications.

Benign paroxysmal tonic upward gaze syndrome

Abstract: Introduction The benign paroxysmal tonic upward gaze syndrome (BPTUG) is a rare condition. We present two new cases analyzing the clinical, genetic, evolution and therapeutic aspects. Clinical cases Case 1. A 2 year-old girl with no family history of similar disorders started, at the age of 6 months, to have episodes of upward deviation of gaze with hyperextension of the neck and vertical nystagmus of fixation, increased by nervousness and episodes of fever. Some episodes caused the patient to fall in spite of there being no alteration of consciousness. Case 2. From the age of five months a 1 year-old girl with no significant personal or family history had episodes of ocular deviation upwards with forward inclination of the head to correct her gaze and slow motor development from the age of five months. Results Complementary studies were normal in both patients. As in the cases described in the literature, our cases had no family history and were not sensitive to Dopa. To date 11 children have been described in the literature and few familial cases seen with dominant autosomal inheritance. Conclusions Our patients had a non-epileptic paroxystic phenomenon known as BPTUG syndrome. This condition starts during the first year of life, has a benign course and the episodes have ceased by the age of four years. We believe it is important to consider the differential diagnosis with epileptic phenomena, evaluate the response to L-Dopa and bear in mind that this syndrome may be the clinical expression of several different conditions. Although the course is usually benign, it may later be associated with other signs of neurological problems which should be taken into account.

Mioclonías neonatales benignas del sueño Artículo original

Abstract: SUMMARY Introduction. Benign neonatal sleep myoclonus (BNSM) is the term applied to repetitive myoclonic jerks appearing during sleep in the first weeks of life in otherwise normal neonates. The course is benign and symptoms wade within a few months. We present a series of patients with this condition studying