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. RESULTS: Hypopigmented macules were the most frequent finding, seen in 103 of 106 children (97.2%). In 66 children they were evident at birth, and in 20 others their presentation was delayed until the first months of age. Facial angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), "cafe-au-lait" macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and "confetti-like" macules (3 of 103, 2.8%). The hypomelanotic macules were seen within the first 2 years of life in 95 children, as were café-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life. CONCLUSIONS: Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC should be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.

[Oligosymptomatic presentation of tuberous sclerosis in two pedigrees]. / Skapoobjawowe wystepowanie stwardnienia guzowatego w dwóch rodowodach.

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. All 7 affected persons presented in the paper were mentally normal and only two of them suffered from epilepsy.

[Diagnostic problems of congenital muscular dystrophies in children]. / Problemy diagnostyczne we wrodzonych dystrofiach miesniowych u dzieci.

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]. / Objawy okulistyczne u chorych ze stwardnieniem guzowatym.

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. Three types of tumors were observed: a) flat or slightly elevated, indistinct, salmon-grey colour, b) whitish-yellow, mulberry-like, located in disc area, c) mixed or intermediate. The authors observed 4 stages of tumors' development: changes in distribution of pigment in retina, arising of semitranslucent, salmon-grey tumors, mineralization of tumors-so called intermediate type, mulberry-like type. Progress from one stage to the next one is slow.

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. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients.

[Extrapyramidal diseases in children--clinical problems regarding etiopathogenesis and epidemiology]. / Choroby ukladu pozapiramidowego u dzieci--problemy kliniczne, etiopatogenetyczne i epidemiologiczne.

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. The various categories extrapyramidal syndromes are known, but a variety of intermediate forms have been described. The diagnosis extrapyramidal diseases in children despite recent advances in neurology and genetic remains very difficult.

[Analysis of adverse factors affecting the result of therapy for West syndrome in children]. / Analiza czynników niekorzystnie wplywajacych na wyniki leczenia w zespole Westa u dzieci.

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). Children were divided into four groups, depending on etiology of the disease. Group 1 included 39 children with lesions to CNS during pregnancy; group 2-8 children with developmental CNS disorders, group 3-6 children with a history of encephalitis or meningitis, and group 4-13 children in whom etiology of West syndrome was unclear. Patients were treated with Synacthen-Depot in a daily dose of 0.03 mg/kg combined with other anti-epileptic agents. The most difficult to treat were those children in whom West syndrome occurred below 6 months of life, were psychomotor retarded before the onset of symptoms, hormonal treatment was introduced with delay, there were additional seizures of different etiology, and there were frequently recurrent infections.

[Lennox-Gastaut syndrome--clinical course and therapy]. / Zespól Lennoxa-Gastauta--obraz kliniczny i postepowanie terapeutyczne.

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. Clinical course, prognosis and results of therapy are largely dependent on the degree of mental development before the onset of epileptic seizures, course of pregnancy and perinatal period, and the time of therapy. Children with Lennox-Gastaut syndrome require relative polytherapy in which valproic acid derivatives are predominating together with benzodiazepines, and temporary corticosteroids. An improvement was achieved in about 30% of the treated children. Prognosis in the remaining 70% of children is rather poor. Irregular administration of drugs, frequent changes of anti-epileptic agents, too low doses and abnormal environmental effects (abnormal parental attitudes) affect the results of therapy. An emphasis is on the poor prognosis in Lennox-Gastaut syndrome proceeded with West syndrome.

[A case of renal clear cell sarcoma in a child with tuberous sclerosis]. / Przypadek miesaka jasnokomórkowego nerki u dziecka ze stwardnieniem guzowatym.

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. The authors pay attention to the fact that both clear cell sarcoma and most lesions observed in sclerosis tuberosa have common origin from the nervous crest so their coexistence seems no accidental. In view of the observed in sclerosis tuberosa proneness to neoformation, the authors stress the necessity of periodical examinations of the brain and internal organs, mainly kidneys and liver.

[The examination of mental status of children with multiple sclerosis]. / Ocena stanu psychicznego u dzieci ze stwardnieniem rozsianym.

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. It was noted that with time the chance of organic pathology increases.

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. Their age ranged from 3 months to 18 years. Liver hamartomas were seen in 12 (23.5%) of the children, more often in girls than boys (5:1). Their incidence increased with age reaching 45% in children over the age of 10. They did not produce any symptoms of hepatic dysfunction. Our study and review of reported cases prove that hepatic hamartomas are a common finding in patients with tuberous sclerosis and may be very helpful in providing a more accurate diagnosis and consequently help in genetic counselling.

[The Landau-Kleffner syndrome]. / Zespól Landau-Kleffnera.

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. The small number of publications on the Landau-Kleffner syndrome in the available literature, especially Polish, is stressed.

[Results of using Dorsiflex in various neurologic diseases in children]. / Wyniki stosowania dorsiflexu w niektórych chorobach neurologicznych u dzieci.

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 drug was well tolerated.