[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].

Unlabelled: Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase.

Aims And Methods: Authors analyzed the phenotype of 11 Hungarian patients with Pompe's disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients.

Results: One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years.

Hereditary neuropathy with liability to pressure palsy in childhood.

HNPP is an autosomal-dominant inherited disease clinically characterized by painless, episodic, recurrent peripheral palsy often preceded by minor trauma or toxic damage. It generally develops during adolescence and rarely is reported in childhood. We observed two children with this disease.

[Epilepsy in childhood: diagnosis and therapy].

Epilepsy in childhood is a very frequent disease. Diagnosis is not easy due to many types of provoked seizures in children. The main diagnostic tool is the medical history.

[Supplementary sensory-motor seizures--symptomatology, etiology, and surgical management with illustrative case reports].

In the past decade, owing to the advance of epilepsy surgery, growing knowledge has accumulated on the role of the supplementary motor area, described by Penfield and coworkers in the early fifties, in movement regulation and on the characteristics of seizures involving this area. In the Hungarian neurological literature this topic--despite its neurophysiological and practical clinical importance--has been hardly touched. The authors, based on their own experience obtained from surgeries performed within the framework of the "Co-operative Epilepsy Surgery Program", describe the electrophysiological features of this area, its role in movement regulation and the symptoms of epileptic seizures stemmed from or spread onto this area.

Urinary N-acetyl-beta-D-glucosaminidase in epileptic children treated with antiepileptic drugs.

Aim: To investigate the effect of prolonged use of antiepileptic drugs on renal function in children.

Methods: Prospective study of 72 children (aged 3-18 years) with epilepsy, on either monotherapy (n = 44) or combined therapy (n = 28). The length of treatment varied from 1 to 13 years.