[Menkes' syndrome. Description of a clinical use].
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Brain Diseases, Metabolic↗
Biomedical subjects
L De La Pierre
Publications and source records attributed to L De La Pierre.
[Hepatotoxicity of the rifampicin-isoniazid combination in children].
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Chemical and Drug Induced Liver Injury↗
Eye closure sensitivity without photosensitivity in juvenile myoclonic epilepsy: polysomnographic study of electroencephalographic epileptiform discharge rates.
Two cases of juvenile myoclonic epilepsy (JME) presented with myoclonic jerks and EEG activation after eye closure, without sensitivity to intermittent photic stimulation. The effect of eye closure was computed by comparing discharge rates of polyspike-and-wave (PSW) complexes after eye closure and after eye opening. For one patient, never treated pharmacologically, a nocturnal polysomnograph was performed to study the variation of discharge rates of PSW complexes during wakefulness and sleep. The rate of PSW complexes was high during wakefulness before sleep onset, increased during spontaneous nocturnal awakenings, and became maximal during final morning awakening. Among nonrapid eye movement (NREM) sleep stages, EEG epileptiform activity was maximal during stages III and IV. Discharges were completely suppressed by rapid eye movement (REM) sleep. Awakenings following deep NREM sleep were very activating if no REM sleep was interposed. Awakenings from light NREM sleep were much less activating. There were no EEG abnormalities in awakenings immediately following REM sleep. Results suggest that REM sleep, similarly to eye opening, plays a role in inhibiting EEG manifestations of JME with eye closure sensitivity.
Adolescent↗
[Multiple sclerosis in childhood: a report of 2 clinical cases].
Multiple sclerosis is a rare finding in pediatric age. The onset of the disease may be in adolescence or pre-adolescence. It is important that pediatricians know the diagnostic criteria and clinical course of multiple sclerosis in childhood. We describe the case reports of two children, a 11- and a 14-years-old girls and review the literature of the last 5 years on multiple sclerosis in childhood.
Adolescent↗
[West syndrome in a case of congenital cutis aplasia].
A case of West's syndrome in a four months old child affected with aplasia cutis congenita is described. The Authors suggest the possibility of a link between the two diseases.
Ectodermal Dysplasia↗