Biomedical subjects

S Monges

Publications and source records attributed to S Monges.

4 recordsLinked to original sources

PubMed2005

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

We analysed the clinical, histochemical, ultrastructural and genetic data of patients affected by central core disease (CCD) studied during the last 20 years. From a total series of 86 CCD-families, we have identified 46 CCD families with RYR1 mutations (16 autosomal dominant, 8 autosomal recessive, 17 sporadic cases and 5 de novo mutations). Out of the other 40 CCD families, the RyR1 gene was entirely excluded in 7 families, by cDNA sequencing or linkage analysis, indicating a genetic heterogeneity of CCD.

Humans↗

PubMedDate not supplied

[Reflex myoclonic epilepsy in infancy: a new reflex epilepsy syndrome or a variant of benign myoclonic epilepsy in infancy].

CASE REPORTS: We report a clinical and EEG study of 8 children with reflex myoclonic epilepsy of infancy to further confirm the existence of this syndrome first described by Ricci et al in 1995. RESULTS: Between February 1990 to July 2002, we identified 64 epileptic patients with myoclonic seizures with an onset in the first six years of life. Eight (12.5%) of these patients had myoclonic seizure stimuli sensible. The seizures were characterized by generalized, myoclonic jerks triggered by tactile stimuli in six patients and acoustic stimuli in two, in one of them myoclonic jerks were triggered by both types of stimuli. The seizures appeared between 5 and 20 months of age. Two of the 8 patients had spontaneous myoclonic attacks during sleep. Interictal EEG was normal during wakefulness and occasional discharges were evident during sleep. In contrast, the ictal EEG during both wakefulness and sleep showed generalized spike wave and polyspike slow wave paroxysms. Neurologic examination, neuroimaging and neurometabolic studies were normal. Myoclonic jerks disappeared in 6 patients after valproic acid administration and in two after clobazan administration. Antiepileptic treatment was discontinued in 6 patients and no seizure recurrence was observed during a median follow up of 6 years. CONCLUSION: Our patients presented electro clinical criteria compatible with the syndrome of reflex myoclonic epilepsy of infancy. This syndrome could be considered to be a new reflex epileptic syndrome or a variant of benign myoclonic epilepsy in infancy.

Anticonvulsants↗

PubMedDate not supplied

[Delayed-type subacute measles encephalitis].

INTRODUCTION: We analyze the clinical, neurological, EEG, neuroradiological features and evolution of two patients with subacute measles encephalitis. CASE REPORTS: The patients, aged five years and eleven months respectively showed an acute, progressive neurological compromise and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, with a history of measles in the first case and exposure to the virus in the second. The first patient had Hodgkin's disease and the other had a familial C4 deficit disorder. Fundoscopic examination showed lesions on the retina. The EEG showed unilateral slow waves and spikes. Brain CT and MRI revealed progressive cerebral atrophy and a unilateral corticosubcortical lesion. Measles antibodies in CSF were found in the first child and oligoclonal bands in the second. Our first patient died after three months and the second has a severe neurological damage. CONCLUSION: In immunocompromised patients with the exposure to a history of measles, acute neurological compromised and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, subacute measles encephalitis should be considered.

Acute Disease↗

PubMedDate not supplied

[Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis].

AIMS: In this paper we describe the clinical characteristics, and particularly the epileptic seizures and electroencephalographic findings, in 15 patients with a pathology diagnosis of late infantile neuronal ceroid lipofuscinosis (NCL). PATIENTS AND METHODS: Nine female and six male patients were studied and their clinical records covering the period February 1990 to June 2003 were analysed. Neuroimaging, neurometabolic studies, ERG, PE and repeated EEG were carried out in all cases. RESULTS: The mean age on onset of the disease was 3 years (range: 1-5 years). The initial symptom was epilepsy in all cases. Massive myoclonias and myoclonic-atonic seizures were the most frequent kinds of attacks. Focal myoclonias were observed in six patients. Other types of epileptic seizures observed included generalised tonic-clonic, absence, motor focal and complex focal. The epileptic seizures were resistant to therapy. Progressive neurological and visual impairment, pyramidal and cerebellar signs, as well as mental retardation were present in all cases. Intercritical EEG recordings showed diffuse paroxysms with spike and polyspike waves, multifocal spikes and, less often, focal spikes that were predominant in posterior regions. Photostimulation showed high amplitude (300-450) occipital spikes during the application of light stimulation between 1 and 8 Hz. ERG, VEP and SSEP results were pathological. Images showed signs of brain and cerebellar atrophy. Seven of the patients died between 8.5 and 11 years of age. CONCLUSIONS: Late infantile NCL must be considered in the case of a child aged between 1 and 5 years who presents seizures that are predominantly generalised myoclonias and myoclonic-atonic, in association with progressive neurological deterioration including pyramidal, cerebellar and visual signs and an EEG trace showing occipital paroxysms triggered by low frequency photostimulation.

Child↗