Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas.

Methods: The prevalence of cutaneous lesions in 106 children with TSC (47 boys and 59 girls) aged 1 month-18 years was evaluated from 1984 to 1995. Assessing the diagnostic usefulness of each National Tuberous Sclerosis Association skin criterion was an aim of this study.

[Oligosymptomatic presentation of tuberous sclerosis in two pedigrees].

The authors describe clinical course of tuberous sclerosis in seven family members from two pedigrees. They stress the importance of careful medical anamnesis and skin examination in family members of persons affected with tuberous sclerosis. It is pointed out that in contrast to widespread stereotype of a patient with tuberous sclerosis-a person with epilepsy, mental retardation and multiple skin and organ involvement, much more common than it was previously thought, the course of the disease may be oligosymptomatic and the affected person may properly function in society.

[Diagnostic problems of congenital muscular dystrophies in children].

Three children with a diagnosis of congenital muscular dystrophy are described. Because of the heterogeneity of these disorders the authors stress the necessity of differentiation with other causes of "floppy infant" syndrome, especially with Werdnig-Hoffmann disease, structural myopathies, and Duchenne progressive muscular dystrophy. An extensive hypodense area on brain CT scan was found in one child.

[Ocular changes in patients with tuberous sclerosis].

The authors discussed ocular changes observed in 100 children with tuberous sclerosis. Retinal tumors, typical of this disease, were found in 19 patients (19%). This incidence was higher in older children.

Cardiac tumours in tuberous sclerosis: their incidence and course.

Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure.

[Lennox-Gastaut syndrome--clinical course and therapy].

Clinical course and results of therapy were analysed in the group of 92 children, aged between 3 and 9 years, with diagnosed Lennox-Gastaut syndrome. The obtained results of an analysis have shown that Lennox-Gastaut syndrome origin is not clear--causative factor can not be established in 1/3 of patients whereas in 1/2 of them abnormal course of pregnancy and perinatal period is noted. Together with seizures of various origin, other focal neurological symptoms, mental retardation and abnormalities in CT scans of the brain are frequently seen in patients with Lennox-Gastaut syndrome.

[Analysis of adverse factors affecting the result of therapy for West syndrome in children].

West syndrome is a from of epileptic attacks of infants. Diagnosis of West syndrome includes: presence of the sudden violent flexion of the trunk and limbs, psychomotoric development retardation, especially after the onset of attacks, abnormal EEG records, and therapeutical problems. Clinical course and results of therapy were analysed in 66 children with West syndrome (39 boys and 27 girls).

[Extrapyramidal diseases in children--clinical problems regarding etiopathogenesis and epidemiology].

Clinical picture, etiopathogenesis and epidemiological analysis were performed on the extrapyramidal diseases of the children. Despite of advances in neurology and on the own observations etiopathogenesis of these syndromes remains unexplained. The abnormalities neurotransmitters of the brain is the main cause abnormal function of the basal ganglia.

[A case of renal clear cell sarcoma in a child with tuberous sclerosis].

A 10-year-old girl with sclerosis tuberosa was admitted to the Children's Health Centre for febrile states of unclear origin. Ultrasonography revealed the presence of renal tumour of clear cell sarcoma character in histopathological examination. Despite nephrectomy the child died several weeks after the operation.

Incidence of hepatic hamartomas in tuberous sclerosis.

Hepatic hamartomas were thought to be a rare finding in patients with tuberous sclerosis. The purpose of this study was to assess their incidence in children with tuberous sclerosis and to review the literature. During 1984-90 we examined 51 children by ultrasonography; there were 25 boys and 26 girls.

[The examination of mental status of children with multiple sclerosis].

Assessment was conducted on 50 children with multiple sclerosis ranging in age from 3 to 16 years. The aim of the study was to the discover how they deviate from the norm in their mental status. It was concluded that the most frequent symptoms in this group of children, were various disorders in the impulsive--emotional sphere.

[Results of using Dorsiflex in various neurologic diseases in children].

Therapeutic results are described obtained with the preparation Dorsiflex produced by the Yugoslav institution Lek Ljubliana. The drug was given to 40 children aged 8 to 14 years with various neurological diseases with muscle hypertonus as the prevailing sign. The preparation was found to exert a good myorelaxant effect, facilitating comprehensive rehabilitation in cases in infantile cerebral palsy, after craniocerebral injuries, encephalomeningitis, degenerative diseases and other conditions.

[The Landau-Kleffner syndrome].

The variable aetiology and complicated pathogenesis of aphasia during epilepsy in children cause many diagnostic and therapeutic difficulties. The authors describe two children with aphasia and epileptic seizures and with high titre of toxoplasma antibodies. The role of toxoplasmosis in this syndrome is discussed.