[Pyknoleptic petit mal and secondary grand mal].
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Biomedical subjects
Publications and source records attributed to H Doose.
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The abnormal theta rhythm of the EEG of early childhood was investigated by spectral analysis. The pattern in the power spectrum is characterized by a peak in the thetaband. The relative peak intensity (peak ratio = ratio of peak intensity and average intensity of the spectrum within the frequency range of 0--10 Hz) as well as the right-left coherence proved to be good criteria for the description of the abnormal theta rhythms. When the ratio q greater than or equal to 2.0 and the coherence Coh greater than or equal to 0.7 an abnormal theta rhythm can be considered to be present. When this definition is applied, a high correspondence between the mathematical and visual evaluation of the EEG is present. The abnormal theta rhythm must be regarded as a symptom of a functional anomaly which is -- under electroencephalographic aspects -- characterized by generators acting in abnormal synchronism and monofrequency.
We report a 10 year old girl with psychomotor retardation, myoclonic syndrome and extreme photosensitivity. Clinical symptomatology and EEG-findings were not compatible with any of the known myoclonic syndromes. The patient's remarkable phenotype with short stature, dystrophy, facial dysmorphia characterized by antimongoloid palpebral fissures, broad root of the nose, coarse nose, inner epicanthic folds, dysplasia of the external ears, higharched palate, syndactylism between 2nd and 3rd toes on both sides, small narrow hands is suggested of a chromosomal disorder. A ring-shaped chromosome of the G-group (21--22) could be found. After using the Giemsa- and C-banding technique this chromosome could be identified as number 21. Patients with ring chromosome 21 or 22 are phenotypically not distinguishable. This is due to duplication-deficiency-variability of ring chromosomes in growing somatic tissues. The cellular genotype of ring chromosomes varies between monosomy, trisomy and polysomie.
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