The syndrome of 'continuous muscle fiber activity.'.

A 7-year-old boy who suffered from increasing stiffness and contractures of the extremities had distally pronounced atrophy and absent tendon reflexes. Electromyography showed continuous electrical activity during rest, sleep, after intravenous injection of diazepam, and after peripheral nerve block. The H reflex was elicitable; the silent period after the reflex was absent. Histopathological examination of the peroneus muscle disclosed a marked preponderance of type I fibers and slight atrophy of the type II fibers. Electron microscopic examination of the endplates demonstrated a marked atrophy of the postsynaptic regions and widened synaptic clefts. After one year's treatment with phenytoin, 200 mg daily, the patient showed an almost normal muscle tone. As not all of these electrophysiological phenomena can be fully explained by disturbances of the nerve terminals or the endplates, a further anomaly proximal from the peripheral nerve block seems to have been present.

Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.

A typical case of late infantile MLD is presented with all available clinical, morphological and biochemical results. The diagnostical value of the different parameters is evaluated and the pathogenesis of the disorder discussed. In spite of successful experimental enzyme substitution in cultured MLD fibroblasts with restitution of function by added Arylsulfatase, the therapeutic possibilities for the fatal disease in the patients are extremely limited.

Niemann-Pick's disease. Clinical, biochemical and ultrastructural findings in a case of the infantile form.

A diagnosis of Niemann-Pick disease type A was made in a 6-month-old boy on the grounds of progressive psychomotor retardation, hepatosplenomegaly, typical foam cells in the bone marrow and a deficiency of sphingomyelinase in a liver biopsy. Typical ultrastructural changes in lysosomes were found in hepatocytes and in Schwann cells. In spite of the absence of gross morphological changes in the axons and in the myelin sheath of the peripheral nerve biopsy, the nerve conduction velocity in the patient was greatly reduced. The ultrastructural aspect of the lysosomal inclusion suggested the storage of a phospholipid. Biochemical analysis of the liver biopsy demonstrated an increased content of total phospholipid of which sphingomyelin made up for more than 60%. The significance of these data are discussed.

Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia.

This report concerns a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia and normal excretion of acid mucopolysaccharides. A deficiency of acid beta-galactosidase was demonstrated in isolated leucocytes and in a liver biopsy. The diagnosis of generalized gangliosidosis due to deficiency of beta-galactosidase was also based on the absence of the enzyme activity from cultured fibroblasts. The diagnosis was confirmed on autopsy at 16 months by typical histology, electron microscopy and biochemistry of the organs. beta-galactosidase deficiency has been demonstrated in various clinical conditions ranging from generalized gangliosidosis with severe mental retardation to clinical pictures resembling Morquio's disease and normal intelligence. The heterogeneity of the clinical manifestations in beta-galactosidase deficiency could be explained by different residual activities of a structurally mutated enzyme towards its various substrates.

Apnoeic attacks as an isolated manifestation of epileptic seizures in infants.

Apnoea as an isolated manifestation of seizures is well described in neonates but is only occasionally observed in infants. We present data from four infants, with apnoea as the sole manifestation of seizures, documented by polygraphic ictal electroencephalogram (EEGC) and video recording. The four infants, after normal pregnancy and delivery at term, showed the first apnoea at the age of 2-11 months. The interictal EEG was normal. The ictal EEG and video recording showed in all infants a focal rhythmic alpha or theta activity with or without generalization, which lasted 40-120 seconds. The apnoea appeared a few seconds after the beginning of rhythmic activity and the heart rate remained unchanged during the apnoea. At 2 years' follow-up, three children are seizure-free under anti-epileptic therapy with normal psychomotor development in two, and a slight delay in the third infant. The fourth child has partial seizures and is severely retarded.

Acute encephalitis in Swiss children: aetiology and outcome.

Since published data on the course and prognosis of encephalitis in Central Europe is limited, we retrospectively evaluated 104 children with either acute strict sense encephalitis (n = 80) or acute cerebellar ataxia (n = 24) treated at the Department of Pediatrics, University of Bern, Switzerland, between 1980 and 1991. Of the 80 patients with strict sense encephalitis, four (5%) died acutely and 28 (36%) of 78 followed up had sequelae - eight patients with severe, six with moderate and 14 with mild sequelae. Young age and seizures were shown to correlate with poor outcome. Among the 24 patients with acute cerebellar ataxia, there was no fatal outcome and none developed severe residua, but six had mild and one had moderate sequelae. Initial cerebrospinal fluid white cell count was significantly higher in these children with sequelae compared with those without any sequelae after acute cerebellar ataxia.

Concomitance of childhood absence and Rolandic epilepsy.

Five children (3 girls and 2 boys) who showed generalized synchronous 3/sec spike and wave complexes as well as centrotemporal spikes in the same EEG or in different EEGs are described. Among these five patients only 1 boy and 1 girl showed clinically both absence seizures and partial motor seizures with or without secondary generalization. One girl and 1 boy have only absences and the other girl only partial motor seizures. A concomitance of generalized synchronous 3/sec spike and wave discharges and centrotemporal spikes in the same patient is rarely found. The clinical manifestation of absences and partial motor seizures in the same patient is extremely rare.

Rotatory seizures in a patient with tuberous sclerosis.

We present an 11-year-old girl with tuberous sclerosis who developed seizures characterized by circling behavior. Rotatory seizures are uncommon and occur mainly secondary to a focal pathology. Our patient had a right temporal epileptic focus, confirmed by magnetic resonance imaging (MRI) to be a subcortical lesion in the right temporal region. This case is probably the first reported case of tuberous sclerosis associated with rotatory seizures with an ictal EEG.

Combination chemotherapy with VM 26 and CCNU in primary malignant brain tumors.

Twenty-seven patients with inoperable or recurrent primary malignant brain tumors after previous resection and/or radiotherapy, were treated with corticosteroids and a combination chemotherapy consisting of VM 26 and CCNU. There were 15 (55%) patients that responded, three with a complete and 12 with a partial response with a mean duration of response of 13.4 months. Toxicity was mainly hematological and of acceptable degree. Combination chemotherapy with VM 26 and CCNU is well tolerated and can be administered on an out-patient basis. In our experience it is better than single agent chemotherapy.

[Neuropediatric emergencies]. / Neuropädiatrische Notfälle.

Febrile convulsions, afebrile seizures and headache are common acute problems in child neurology. The first steps of a practical approach by physicians in recognizing and treating these neurologic diseases are discussed.

[Psychomotor seizures in childhood and their differential diagnosis]. / Psychomotorische Anfälle im Kindesalter und ihre Differentialdiagnose.

The spectrum of complex partial seizures is influenced by the criteria of selection and by the methods of documentation used by the different authors. Partial complex seizures can be observed already in infancy. 55 to 63% of the children with such seizures are males. Seizures with unresponsiveness and blank stare are seen in all age groups, but they are underrepresented in statistics based mainly on the description of the seizure in contrast to seizures recorded during videotape monitoring. The mean duration of more than one minute permits to differentiate these seizures from absences with automatisms.

[Differential diagnosis of impaired consciousness in the child]. / Differentialdiagnose des Dämmerzustandes beim Kind.

The author discusses the main causes of acute consciousness in childhood: poisoning, epileptic seizures, head trauma and basilar migraine.

[Prognostic value of the EEG prior to the start and the discontinuation of anticonvulsive therapy]. / Prognostischer Wert des EEG vor Beginn bzw. Ende der antikonvulsiven Therapie.

Opinions are divided about the prognostic value of the EEG in the course of epilepsy. We thus prospectively examined 275 children with epilepsy; in particular, we analyzed the prognostic role of the EEG. Out of these 275 children 209 (76%) have been free from attacks for more than one year. In 107 children the anticonvulsive therapy was discontinued, leading to a relapse rate of 27%. According to our results, only the focal EEG changes, up to interruption of the anticonvulsive therapy, show a statistical significance in the course of epilepsy. On the other hand, a normal EEG before or normalization of the EEG after commencement of therapy and also the absence of any epileptic activity (focal or generalized), are likely to be favourable. However, we could not find a statistically significant difference.

[Variability of epileptic seizure phenomenology in infants and children]. / Variabilität der epileptischen Anfallsphänomenologie bei Säuglingen und Kindern.

It is well known that some patients may have two or more different types of seizures. Partial epilepsies and more than 15 different epileptic syndromes (e.g. West or Lennox-Gastaut syndrome or epilepsies with absences) can lead to the intraindividual manifestation of two or more seizure types. Among 728 children with epilepsy seen at the outpatient department 9.1% had two different types of seizures and 1.5% had more than two types of seizures. The most common association observed was between tonic-clonic seizures and absences. The most frequently observed epileptic syndromes were in decreasing order: multifocal epilepsies, epilepsies with absences, Lennox-Gastaut syndrome and West syndrome. The association of two or more different seizure types in the same patient seems to be a negative prognostic factor.