ABSTRACT
A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and it is difficult to relate the phenotype of the infant to the cytogenetic findings.
Subject(s)
Agenesis of Corpus Callosum , Chromosome Aberrations , Mosaicism , Humans , Infant , Intellectual Disability/genetics , Karyotyping , Male , Phenotype , Psychomotor Disorders/genetics , SyndromeABSTRACT
The authors describe the electro-clinical state of four children having a type of epilepsy clinically characterized by rare partial motor seizures and frequent absences. From E.E.G. point of view they had focal (mainly frontal) and diffuse abnormalities. Such diffuse abnormalities became continuous during slow sleep, thus realizing an electrical status epilepticus. During such status partial subclinical seizures were recorded. At the onset such cases have electroclinical features resembling those observed in the form of epilepsy so-called "benign partial epilepsy of children with rolandic or mid-temporal foci". All cases, however, have behavioural problems (instability, desorientation) and decreased school performances. The epilepsy evolution, however, is favourable and such form should consequently be distinguished from the Lennox-Gastaut Syndrome.
Subject(s)
Epilepsies, Partial/diagnosis , Sleep/physiology , Child , Child, Preschool , Electroencephalography , Epilepsies, Partial/physiopathology , Female , Frontal Lobe/physiopathology , Humans , MaleSubject(s)
Brain/physiopathology , Epilepsy/diagnosis , Sleep , Age Factors , Child , Child, Preschool , Consciousness , Electroencephalography , Epilepsy/physiopathology , Female , Humans , MaleSubject(s)
Epilepsies, Partial/etiology , Light/adverse effects , Child , Child, Preschool , Female , Humans , Photic StimulationABSTRACT
The authors polygraphically studied the nocturnal sleep of 20 neurologically normal children with typical centrotemporal spikes. The children were divided into two groups: (A) 10 children with centrotemporal spikes and benign epilepsy; and (B) 10 children with centrotemporal spikes without epilepsy. The mean age when the average period of sleep record was performed was the same for the two groups, 8.5 years. The cyclic organization of sleep and the percentages of the different stages were normal in all 20 subjects. The number of spikes was counted in all the subjects during wakefulness and during different stages of sleep. All subjects of both groups showed an important increase in the frequency of spikes going from drowsiness until slow sleep; on the other hand, the activity remained high during REM sleep only for subjects of Group A. Other differences between the two groups concerned the appearnce during sleep of generalized spike waves and independent Rolandic spikes. The authors conclude with the affirmation that the polygraphic study of nocturnal sleep in children with Rolandic spikes can be an additional parameter for differential diagnosis between children with and those without epilepsy.
