Showing papers by "Natalio Fejerman published in 2001"

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

Abstract: The syndrome of benign familial infantile convulsions (BFIC) is an autosomal dominant epileptic disorder that is characterized by convulsions, with onset at age 3–12 mo and a favorable outcome. BFIC had been linked to chromosome 19q, whereas the infantile convulsions and choreoathetosis (ICCA) syndrome, in which BFIC is associated with paroxysmal dyskinesias, had been linked to chromosome 16p12-q12. BFIC appears to be frequently associated with paroxysmal dyskinesias, because many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 ICCA region. Moreover, one large pedigree with paroxysmal kinesigenic dyskinesias only, has also been linked to the same genomic area. This raised the possibility that families with pure BFIC may be linked to chromosome 16 as well. We identified and studied seven families with BFIC inherited as an autosomal dominant trait. Genotyping was performed with markers at chromosome 19q and 16p12-q12. Although chromosome 19q could be excluded, evidence for linkage in the ICCA region was found, with a maximum two-point LOD score of 3.32 for markers D16S3131 and SPN. This result proves that human chromosome 16p12-q12 is a major genetic locus underlying both BFIC and paroxysmal dyskinesias. The unusual phenotype displayed by one homozygous patient suggests that variability of the ICCA syndrome could be sustained by genetic modifiers.

Atypical evolution in childhood epilepsy with occipital paroxysms (Panayiotopoulos type).

Abstract: We report, on two, school-age girls with clinical and electroencephalographic features of early onset childhood epilepsy with occipital paroxysms (CEOP) of the "Panayiotopoulos type" that showed atypical evolution. Neurological examination and brain imaging were normal in both. One child presented at age 2.5 years episodes of oculocephalic deviation, and ictal vomiting during nocturnal sleep. The EEG showed left occipital spikes during wakefulness and sleep. One year later, frequent inhibitory seizures appeared in the lower limbs causing, "pseudoataxic gait". At the same time she presented with behavioral disturbances and aphasia. EEG showed bilateral spike-waves while awake and continuous spike-waves during slow sleep (CSWSS). After switching AEDs to benzodiazepines, control of seizures along with improvement of behavior, and partial restoration of cognitive functions were achieved. The CSWSS disappeared and the last EEG at age 8 years only showed only isolated right occipital spikes. The other girl had a personal and familial history of febrile seizures. At 4 years of age she presented the first non-febrile seizures during sleep, with oculocephalic deviation and ictal vomiting, followed by a generalized tonic-clonic seizure. Partial control of seizures was obtained with antiepileptic drugs. At age 7, the child began to have weekly episodes of oculocephalic version, occasionally with secondary generalization. Repeated inhibitory seizures and absences also appeared. EEG showed frequent bilateral spikes occupying predominantly the posterior regions while awake, and CSWSS. At 7.5 years the same electro-clinical picture persisted. Ethosuximide was added to sodium valproate and clobazam. Fifteen days later, the seizures disappeared and the EEG showed less frequent bilateral occipital spikes. She is now 9 years old and she has been seizure-free for 18 months. Her present neuropsychological profile shows mild mental retardation. The two children with typical electroclinical features of "Panayiotopoulos Type" CEOP developed an atypical evolution which, to our knowledge, has not been described previously.

[Polyneuropathy in critically ill patients: a seldom recognized cause of dependence on mechanical ventilators].

Abstract: 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.