Complex disorder of neuronal migration in an infant with possible congenital cytomegalovirus infection.

A ten-months-old girl was evaluated for developmental delay, increased muscle tone and seizures. CT and MRI revealed un uncommon combination of two different manifestations of neuronal migration disturbance: agyria/pachygyria and subcortical laminar heterotopia ("double cortex" syndrome). The occurrence of these two manifestations of neuronal migration dosorders in the same individual is quite unusual. The possible pathogenesis of such a complex disorder could probably be established only by histologic examination of the brain. A positive serologic reaction for cytomegalovirus in the infant at the age of 11 months and in the mother suggested but did not prove the cytomegalovirus infection in early gestation as the cause of the disorder.

[Monozygotic twins with centrotemporal spikes on the electroencephalogram--differences in clinical manifestations and the effect of valproate therapy]. / Monozigotne blizanke s centrotemporalnim siljcima u elektroencefalogramu--razlike u klinickoj manifestaciji i efektima lijecenja valproatom.

Monozygotic twin sisters who had almost identical electroencephalographic abnormalities, but different clinical features and different response of this abnormalities to valproate at the age of 6 years are described. One twin was admitted to the hospital because of numerous brief myotonic seizures of sudden onset with corresponding abnormalities in the electroencephalogram. The seizures disappeared completely and the electroencephalogram became normal within a week of treatment with valproate. The other twin never had any seizures. However, her electroencephalogram repeatedly showed impressive abnormalities and the therapy with valproate had no substantial effect on these abnormalities. We believe this twins to be a suitable model for studying the inheritance of epilepsy and electroencephalographic abnormalities, as well as for studying the action of antiepileptic drugs. At this moment, it is not possible to offer any reasonable explanation for the normalization of the electroencephalographic abnormality during valproate treatment in the clinically affected twin, while the electroencephalogram remained abnormal in the clinically unaffected twin.

Steroid responsive familial neuropathy with liability to pressure palsies.

Autosomal dominant motor and sensory neuropathy with liability to pressure palsies was studied in three members of the same family. Only one of two monozygotic twin sisters was clinically affected. She developed unilateral peroneal palsy twenty minutes following local pressure. Electromyography revealed a weak intermediate innervation pattern with very rapid action potentials in the right anterior lower leg muscle. A 25-70 per cent reduction of motor and sensory conduction velocity was recorded in the clinically unaffected twin sister and in the father. The electrophysiological findings in the mother were normal. The sural nerve biopsy revealed "sausage-like" formations. The palsy persisted for two months and disappeared after eight weeks of fluocortolon treatment. It is possible that the myelin sheaths acted as antigen.

[Tuberous sclerosis with epilepsy in monozygotic twins--a new mutation]. / Tuberozna skleroza s epilepsijom u monozigotnih blizanki--nova mutacija.

A 4.5-year-old female twins with tuberous sclerosis are presented. The main clinical manifestations were partial epileptic seizures with complex symptomatology. Repeated EEGs were normal in both twins, while CT scans revealed periventricular calcifications of the brain. The twins were assumed to be monozygotic, what was confirmed with laboratory findings: HLA, identical erythrocyte, enzymatic and protein antigens were found. Skin transplant exchange was not performed. Since both parents do not have any signs of tuberous sclerosis, in this case the disease which is otherwise inherited as an autosomal dominant trait most probably was due to a new mutation which had occurred.

Effect of the antiepileptic di-n-propylacetamide on 5-hydroxytryptamine turnover in the brain and 5-hydroxyindoleacetic acid level in the cerebrospinal fluid.

The effect of antiepileptic drug di-n-propylacetamide (DPM) on 5-hydroxytryptamine (5-HT) turnover in rat brain and 5-hydroxyindoleacetic acid (5-HIAA) in cat cerebrospinal fluid (CSF) was investigated. DPM (200 mg/kg) increased brain 5-HIAA without altering the 5-HT level. DPM augmented the accumulation of 5-HT induced by monoamine oxidase inhibition with pargyline (80 mg/kg) and enhanced the accumulation of 5-HIAA in the brain following blockade of transport of this metabolite by probenecid (200 mg/kg). Prior inhibition of 5-HT synthesis by p-chlorophenylalanine (300 mg/kg) abolished the DPM-induced increase in cerebral 5-HIAA. DPM (100 mg/kg) given daily for 5 days considerably elevated 5-HIAA in the CSF of cat during the treatment period. We conclude that DPM increases the turnover of 5-HT in brain and that this can be observed by monitoring the 5-HIAA content of CSF.