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S Jóźwiak

Publications and source records attributed to S Jóźwiak.

At least 19 recordsLinked to original sources
PubMed2001

[Tests for loss of heterozygosity in tuberous sclerosis].

The authors assessed loss of heterozygosity in TSC1 and TSC2 genes in three patients undergoing resection of TSC hamartomas: two sub-ependymal giant cell astrocytomas and one kidney angiomyolipoma. Loss with heterozygosity was found only in the patient with kidney angiomyolipoma. A germline mutation, TSC2 E35 645 > A 1549Y > N missense mutation was identified by DHPLC and direct genome sequencing in the blood and loss of the normal allele was demonstrated in the tumor. In one of the patients with brain tumors no germline mutation was identified in the blood, but a heterozygous TSC2 E14 1516C > T 505R > X nonsense mutation was found in the SEGA. Another patient demonstrated germline mutation in TSC2 E38 5116C > T 1706R > C, but tumor DNA indicated that there was retention of heterozygosity for this mutation. The presence of LOH in internal organ tumors is consistent with the Knudson's two-hit model in TS. The frequency of LOH depends on the type of tumor and type of mutation (TSC1 or TSC2).

Adolescent↗
PubMed2000

Cranial MRI in the Nijmegen breakage syndrome.

We present the results paragraph signof MRI examinations in ten patients with documented Nijmegen paragraph signbreakage syndrome (NBS), aged 1.75-19 years. T1-, Proton-Density- and T2-weighted spin-echo sequences were performed in three planes. All patients showed microcephaly with decreased size of the frontal lobes and narrow frontal horns. In four patients agenesis of the posterior part of the corpus callosum was found, with colpocephaly and temporal horns dilatation. In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria. Sinusitis was present in all ten patients, as a result of primary immunodeficiency. As in ataxia teleangiectasia and other breakage syndromes, patients with NBS show an inherited susceptibility to malignancy and hypersensitivity to X- and gamma-radiation. CT is therefore contraindicated in these patients and MRI should be the method of choice for diagnostic imaging.

Adolescent↗
PubMed2000

[Phacomatoses: structural substare of epilepsy].

AIM: Evaluation of frequency and characteristics of seizures in the most frequent phacomatoses and assessment of relationship between fits and structural changes in CNS. MATERIAL AND METHODS: 135 children with tuberous sclerosis (TS), 73 with NF-1 and 30 with Sturge-Weber syndrome took part in the study. Except for careful anamnesis in all patients with fits were done brain CT or MR studies. RESULTS: Seizures were reported in 128 of 135 (95%) patients with TS, usually, between 3rd and 6th month of life. Their early presentation was related to developmental delay. Cortical and subcortical lesions detected in neuroimaging studies were responsible for drug-resistant epilepsy in the children. 13 of 73 (18%) children with NF-1 had seizures. In 9 of them CNS lesions were detected on neuroimaging. In Sturge-Weber syndrome inherited meningo-encephalic lesions correlated with hemilateral seizures, even in first months of life. Most children did not show apparent developmental delay. CONCLUSIONS: Epileptic seizures in phacomatoses had their own specificity. They were correlated with structural lesions in CNS.

Brain↗
PubMed2000

[Gabitril as an additive drug in therapy of intractable epileptic seizures in children].

Tiagabine (Gabitril, Sanofi Synlhelabo) new antiepileptic drug was used in add-on therapy in 25 children with resistant partial complex and secondary generalized seizures. Treatment was carried out in children aged 4-17 years with low dose escalation from 5 to 45 mg/day, in three doses until good clinical effects were obtained. In 3 patients aged 4 years, in 11 children aged 5-12 years and in 11 children aged above 17 years Gabitril was used. Follow up period was 8-10 months. Frequency of epileptic seizures before implementation of Gabitril treatment, even during polytherapy with 2 or more antiepileptic drugs was several to hundred per day (status epilepticus was observed in 2 children with Rasmussen syndrome). During the observation 5 children became seizure free, in 11 patients reduction in seizures frequency above 50% was observed and in 9 children effects of treatment were not good enough. Gabitril was well tolerated, and any adverse events were observed in add-on therapy. Preliminary observation and good results of add-on therapy with Gabitril are positive. Drug is safe and generally well-tolerated with good effects at add-on therapy in 64% children with resistant partial complex and secondary generalized seizures.

Adolescent↗
PubMed1998

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.

Adolescent↗
PubMed1995

[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.

Biopsy↗
PubMed1994

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.

Adolescent↗
PubMed1993

[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. 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.

Child↗
PubMed1992

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.

Adolescent↗
PubMed1989

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

Aphasia↗