[Serum uric acid concentration and anticonvulsant therapy in childhood]. / Harnsäureserumkonzentration und antiepileptische Therapie im Kindesalter.

In antiepileptic treated adults a decrease of serum uric acid concentration was reported. In contrast to these findings we did not find a general decrease of uric acid concentration in 233 studied epileptic children and juveniles treated with antiepileptic drugs. But we found a significant decrease of uric acid concentration in epileptic children and juveniles treated with carbamazepine in monotherapy as well as in combined treatment. Rather increased uric acid serum concentration were found in primidone and valproate monotherapy. In the studied age groups only carbamazepine seems to be able to diminish uric acid concentration. The underlying mechanisms are unknown.

[Neurometabolic diseases. References for classification, clinical aspects and diagnostic procedures]. / Neurometabolische Erkrankungen. Hinweise zu Klassifikation, Klinik und diagnostischem Vorgehen.

Diseases caused by neuro-metabolic or neuro-degenerative disorders often lead to diagnostic difficulties, because of their rarity and numerous quantity. The present report tries to combine older classifications according to anatomic aspects with the newer ones underlying biochemical-functional points of view. Then the most important cardinal symptoms in a synoptic demonstration are put in relation to the most considerable neuro-metabolic disorders. Tables concerning age-related diseases and informations on diagnostic methods of importance are presented.

[Moyamoya syndrome. An unusual case report in an 8-year-old boy and review of the literature]. / Das Moyamoya Syndrom. Eine ungewöhnliche Kasuistik bei einem achtjährigen Knaben und Literaturübersicht.

A Moyamoya disease in an 8-year-old german boy is reported. Medical history revealed attacks of hemiparesis and aphasia. The cerebral angiogram showed a typical, bilateral stenosis of the internal carotid arteries, collateral vessels as well as an occlusion of the basilar artery. Etiology, clinical findings, diagnostic procedures, differential diagnosis, therapy and prognosis of this rare disease is discussed on the basis of literature.

Progabide for previously untreated absence epilepsy.

Ten patients suffering from absence epilepsy and showing generalized spike-wave paroxysms in the EEG were treated by progabide monotherapy. Findings concerning clinical data and serial 24 h long-term EEG recordings were compared for the pre-treatment and treatment period. The average total spike-wave duration in 24 h decreased slightly from 810 sec to 699 sec; at follow-up, in 4 cases this trend was found to have reversed. Concerning seizure frequency, a marked anticonvulsant effect could not be confirmed; an initial slight anti-absence activity in some cases seemed to be subjected to the development of tolerance. Side effects were rarely observed and if so were not severe.

[Familial episodic ataxia]. / Familiäre episodische Ataxie.

5 members of a family with periodic cerebellar dysfunctions are described. This rare disorder occurred in the early childhood and is characterised by episodes lasting minutes to hours with severe cerebellar ataxia, dysarthria, diplopie, nystagmus, vertigo and vegetative symptoms. The examinations between attacks are almost normal. The inheritance appears to be autosomal dominant. An atrophy of the cerebellar vermis was found in two patients. Syndrome and investigation results were compared to the seven papers according this disorder, which were published until now.

Longterm follow-up of childhood epilepsy with absences. I. Epilepsy with absences at onset.

The purpose of the follow-up study was to determine whether modern therapy with ethosuximide and/or valproate with/without phenobarbitone and its derivatives improves the longterm prognosis of absence epilepsy as compared to formerly used treatments. The patient population consisted of 194 cases (88 boys, 106 girls) with spike wave epilepsy starting with absences. In each case the diagnosis was confirmed by clinical observation and the typical EEG pattern. Only those patients were included who could be followed beyond the eighteenth year of life (up to age 45). The sample includes also older patients diagnosed during the fifties, before the present standard therapy was available. Because of the heterogeneity of the material and its selection, the data obtained are not suited to make a general statement about the ultimate prognosis of absences. The results demonstrate the effectiveness of regularly applied modern treatment. 72 out of 194 patients (37%) manifested generalized tonic clonic seizures (gtcs) during the course: 20 of these patients showed only incidental generalized tonic clonic seizures, which were not dependent on therapy. In 52 cases gtcs appeared without relation to precipitating factors. None of these patients received regular standard therapy before onset of gtcs. In 31 cases absence statuses were observed. These patients did not have an unfavourable outcome provided the standard therapy was instituted early and consequently. A change from absence epilepsy into an epilepsy with complex partial seizures sensu strictiori could not be observed. At final investigation 42 of 194 patients still had seizures: 7 with absences, 35 with grand mal with or without absences.(ABSTRACT TRUNCATED AT 250 WORDS)

Longterm follow-up of childhood epilepsy with absences. II. Absence-epilepsy with initial grand mal.

The study deals with 83 patients with absence epilepsy which had started with generalized tonic clonic seizures. Only those patients were included, who could be followed up to an age older than eighteen years. The patient population is heterogeneous; it includes numerous older patients in whom therapy had been instituted at a time when the present standard medication with ethosuximide and valproate was not available. Therefore the data cannot be used as a basis for global statements concerning the prognosis of absence epilepsy with grand mal onset. About 80% of the patients treated with standard therapy became seizure free. An unfavourable course was mainly preceded by incorrect, irregular and quantitatively inadequate therapy. Standard therapy cannot prevent singular generalised tonic clonic seizures in the late course. The social status of adult patients is mainly favourable if they are seizure free. Sporadic attacks usually will not impair social integration. In all, absence epilepsy starting with grand mal responds not as well to therapy and has a more unfavourable social prognosis than epilepsy starting with absences.

[Adrenoleukodystrophy in a pair of siblings]. / Adrenoleukodystrophie bei einem Geschwisterpaar.

The diagnosis of adrenoleukodystrophy (ALD) in two brothers was confirmed by the analysis of long-chain fatty acids in cultured skin fibroblasts. The 23 year old brother was treated for Addison's disease at the age of 7 years. His first symptoms of ALD developed at the age of 22. These were lack of concentration and compulsive disorder. The younger brother was noted to show behavioural changes and a decreased performance at school at age 9. The disease then progressed rapidly. Variability and diagnostic procedures are discussed in this report.

Intensive follow-up monitoring in patients with once daily evening administration of sodium valproate.

For 18 previously untreated patients with absence, myoclonic, or grand mal seizures--or combinations--results of clinical and electroencephalographical monitoring are reported. Sodium valproate was given once daily in the evening. Monitoring included repeated 24-48 h EEG recordings and drug blood level measurements. Results indicated the evening monodose to be an adequate therapeutic schedule for a considerable number of patients. Apart from the aspect of simplification, a further important aim is to individually minimize the drug dose. An average of 15.6 mg/kg sodium valproate (range, 10.0-25.5 mg/kg) per day was administered. In some cases the EEG discharge activity continued to be lowered even after the drug blood level had reached steady state. With medication, frequency and total duration of paroxysms were significantly lowered (by more than 90%) in over 80% of the patients, whereas the mean duration of paroxysmal activity did not change uniformly. Before treatment, short paroxysms (1-5 s) were seen together with longer ones in 11 patients. During treatment either all paroxysms disappeared or, in cases of remaining activity, most discharges were short and not accompanied by seizure manifestations. Blood level profiles over 24 h showed maximal values between midnight and 2 a.m. The minimal values (about half of the maximum) were found between 10 p.m. and midnight. The 8 a.m. value was 70-80% of the maximum. Only three patients complained of slight side effects (temporary drowsiness, loss of hair). Because of the simplified handling, the relatively low dose per day, and the few side effects, it seems possible that for primary generalized epilepsies once daily evening administration of sodium valproate is appropriate without diminishing the antiepileptic effect.

[Syndrome of ophthalmoplegia, ataxia and areflexia of Fisher in a 14 year old boy (author's transl)]. / Fisher-Syndrom (Ophthalmoplegie, Ataxie, Areflexie) bei einem 14jährigen Knaben.

The syndrome of ophthalmoplegia, ataxia and areflexia first mentioned in 1932 by Collier and in 1938 by van Bogaert was described more precisely in 1956 by Fisher. It represents a specific clinical entity and is considered to be a variant of idiopathic polyradiculoneuropathy (Guillain-Barré). The most striking features are external (sometimes also internal) ophthalmoplegia, hyporeflexia or areflexia and cerebellar ataxia. During the first days paresthesias are frequently present whereas other disturbances of sensibility are not common. Additional signs of neurological lesions may be observed in association with the syndrome. Spinal fluid shows the typical albumino-cytological dissociation. The disease is characterized by its benign course. The etiology remains unclear, therapy is not necessary.

[The effect of primidone treatment of thyroid hormones in epileptic children and adolescents (author's transl)]. / Veränderungen im Schilddrüsenhormonsystem unter der Langzeitbehandlung mit Primidon bei epileptischen Kindern und Jugendlichen.

In primidon-treated patients there are significantly decreased serum concentrations of total and free thyroxin, protein bound iodine and base line serum TSH values. In primidon-treated children T3-resin test values, concentration of thyroxin-binding protein and total cholesterol are identical to those of the control group. Degree of diminution in serum concentration of protein bound iodine, total and free thyroxin and base line TSH was independant of the primidon dose per day. Probably the demonstrated alteration in the thyroid function tests studied, is mainly caused by phenobarbital, the major metabolite of primidon and not directly by unmetabolized primidon. It is suggested that the high protein-binding capacity of phenobarbital results in a competitive displacement of protein bound thyroxin comparable to that of DPH. Phenobarbital is know to be a stimulator of the drug metabolizing enzyme system in the liver. This effect may be the cause of an increased turnover of T4 which results in a decreased serum concentration of total and free T4 at last. It seems possible that there is a balance in serum concentration of thyroid hormones on a lower level. Normal euthyroid state may be presumed, if T4-secretion raises, but there is no clue for an increased pituarity response. In contrast to the normal group in primidon-treated children the base line serum TSH values are decreased. It is supposed that another effect of primidon is responsible for this fact. There may be an influence of primidon treatment on hypothalamic pituarity axis. Our findings do not indicate clearly a hypothyroid state in primidon-treated patients; further investigations should give an answer to the guestion, if side effects as tiredness, decreased impetus and constipation are not partly caused by alterations in thyroid hormone system.