[Myoclonic-astatic epilepsy in early childhood: review of clinical signs, EEG features, etiology, and therapy]. / Myoklonisch-astatische Epilepsie des frühen Kindesalters: Ubersicht über den aktuellen Kenntnisstand zu klinischen Befunden, EEG-Merkmalen, Atiologie und Therapie.

Myoclonic-astatic epilepsy in early childhood: review of topical knowledge of clinical signs, electroencephalographic characteristics, etiology and therapy. The classification of epilepsy in childhood is discussed continuously. On the basis of some selected cases, the clinical and electrophysiological characteristics of myoclonic-astatic epilepsy in early childhood are described. On the one side we describe similarities of this entity and on the contrary side variabilities of the individual cases. New molecular results are described as possible reasons of the individual course of this disease. The topical options regarding therapy are prescribed.

Tula virus infection associated with fever and exanthema after a wild rodent bite.

Reported here is the first case of human acute infection with Tula virus, which occurred in a 12-year-old boy in Switzerland. This hantavirus had been considered apathogenic to humans, and in Switzerland only TULV-genome sequences have been demonstrated in wild rodents to date. In this case, paronychia, fever and exanthema occurred after the patient was bitten by a wild rodent, indicating an unusual route of hantavirus transmission. Thus, Tula virus infection should be taken into account in patients with appropriate clinical symptoms and contact with rodents.

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.

An unusual clinical course of a patient with biotinidase deficiency, causing Leigh syndrome, is reported. Laryngeal stridor was the major presenting symptom followed by progressive neurologic deterioration and death at the age of 21.5 mo. Absence of skin and hair abnormalities as well as of organic aciduria delayed the correct diagnosis. Necropsy revealed subacute necrotizing encephalopathy (Leigh syndrome). Carboxylase activities (propionyl CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase) measured in lymphocytes 1 day before death were decreased to 10% of normal values. Propionyl-CoA carboxylase was shown to be the only stable carboxylase in human postmortem tissue; in our patient it was moderately decreased in postmortem liver (29% of control) and kidney (42%), but severely decreased in brain (3%). These findings might explain the severity of neurological symptoms in the absence of marked organic aciduria. They indicate that in biotinidase deficiency the CNS may become biotin depleted earlier and more severely than other organs. Biotinidase deficiency should be included in the differential diagnosis of Leigh syndrome and of unexplained respiratory problems.

The hemodynamic effect of STA-MCA bypass.

rCBF was measured by 133Xenon inhalation at rest and during pCO2 manipulation in 19 patients prior to and at various times after STA-MCA bypass surgery. The resting flow increased gradually postoperatively, seemingly more due to progressive clinical recovery from the original neurologic disability than due to the surgical intervention. CO2 reactivity increased in some patients, more in those who preoperatively had the poorest reactivity. The negative relationship between preoperative reactivity and postoperative change in reactivity was highly significant. These observations are consistent with the interpretation that the surgery did not significantly affect the resting flow level but did augment the collateral reserve in those cases in which it had been most severely impaired by the arterial lesion.

Regional cerebral blood flow comparison of right and left hand movement.

Regional cerebral blood flow measurements were made in normal right-handed subjects by the 133 xenon inhalation method at rest and during movement of either hand. Left hand movement evoked a prominent focal flow increase in the right hemisphere in the Rolandic region. During right hand movement, there was a smaller and not statistically significant increase in left hemisphere Rolandic region. This suggests that more effort is required of right-handed subjects to move the left hand than the right, or that motor organization differs for left and right hand movements. Of several flow indices tested, there was little difference among gray matter flow rate, the product of gray matter flow and relative weight, the mean regional flow, and the initial slope index, all reflecting the flow changes with nearly equal sensitivity. The gray matter weight and fractional flow did not change consistently during hand movement.

133Xenon inhalation method: significance of indicator maldistribution for distinguishing brain areas with impaired perfusion. An index for total flow.

This paper introduces a new index for the assessment of regional cerebral blood flow. The index is proportional to total flow, and is obtained from the ratio of regional count rate to arterial indicator input to a region. This index is a more sensitive indicator of impaired perfusion than the traditional flow rate indices which express flow per unit mass of tissue per minute. It accounts for brain tissue partly or totally deprived of its blood supply. Examples of clinical application are reported. A good correlation with the findings of computer-assisted tomography has been found.

133Xenon inhalation method. Analysis of reproducibility: some of its physiological implications.

Regional cerebral blood flow (rCBF) was simultaneously measured at seven locations in each hemisphere by the Obrist 133Xenon inhalation method. In each of 35 healthy right-handed subjects two rest measurements were performed on consecutive days. The data analysis comprises the two-compartmentally derived parameters for flow (f1), relative tissue weight (w1), and fractional flow (FF1) respectively of the first compartment, and in addition the initial slope index (ISI). At each detector location the coefficient of variation (C.V.) of the change from first to second measurement was on average 10.4% (ISI), 14.2% (f1), 7.2% (w1), and 2.9% (FF1) respectively. However, when each regional measurement was expressed as a percentage of its hemispheric mean, the C.V. of the intermeasurement change was on average 4.4% (ISI), 7.0% (f1), 7.7% (w1), and 1.9% (FF1) respectively; that of the hemispheric means of ISI, f1, and FF1 was found to be distinctly larger, whereas that of w1 was about equal in size. The interhemispheric coefficient of variation for the change of the hemispheric means from first to second measurement was only 2.3% (ISI), 4.4% (f1), 1.6% (w1), and 1.1% (FF1) respectively. The findings suggest that (1) the variability of rCBF from subject to subject and in consecutive measurements in the same subject is to a substantial degree of physiological origin, and that (2) there are two determinants of rCBF which may operate independently: a determinant of the hemispheric mean level, probably a single determinant for both hemispheres, and a set of determinants for each separate regions superimposed on the hemispheric mean level.

Ultrasound in the diagnosis of malignant pancreatic tumours.

Ultrasonic scanning of the upper abdomen is a valuable method in diagnosing malignant pancreatic tumours. A series of 12 patients is presented. The method also provides information about the size of the gallbladder and the condition of the liver parenchyma.