Fibrinogen alpha and beta gene polymorphisms in pediatric stroke--case-control and family based study.

BACKGROUND/PURPOSE: Data on the role of the -455G > A polymorphism of the gene encoding ß fibrinogen subunit (FGB) and the Thr312Ala polymorphism of the gene for the α fibrinogen subunit (FGA) in childhood ischemic stroke are insufficient. Therefore the aim of the study was to evaluate a possible association between these two polymorphisms and arterial ischemic stroke. METHODS: The study group consisted of 85 children after ischemic stroke, 146 of their parents and 159 controls. Both polymorphisms were genotyped using the restriction fragment length polymorphism method. Two study designs were used: a case-control model and a family-based transmission-disequilibrium test. Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. RESULTS: In the TDT test, a tendency to a higher transmission of the 312Ala allele of the FGA gene and the -455A allele of the FGB gene was observed, however, it was statistically non-significant. The frequencies of alleles and genotypes of both FGA and FGB genes polymorphisms did not differentiate children from both groups also in the case-control model. Additive or synergistic effects between FGA and FGB genes polymorphisms were not observed. CONCLUSION: An analysis of the results obtained in this study and a critical review of previously published data indicate that examined gene polymorphisms are not related to ischemic stroke in children.

The plasminogen activator inhibitor-1 gene polymorphism in determining the risk of pediatric ischemic stroke--case control and family-based study.

Pediatric ischemic stroke, though relatively rare, remains an important medical problem since 20-40% of patients have recurrent strokes and 50-85% of them suffer from long-term neurological deficits. Approximately 20-50% of the affected children have prothrombotic disorders, therefore upon looking for possible genetic causes of the disease we focused on the plasminogen activator inhibitor (PAI-1)--the major inhibitor of fibrinolysis. The aim of the present study was to investigate a possible association between the -675_-674insG PAI-1 gene polymorphism and pediatric ischemic stroke. The study population consisted of 343 individuals: 70 children with ischemic stroke, 140 their biological parents and 133 control children. The PAI-1 gene polymorphism was genotyped using the restriction fragment length polymorphism and was visualized by AgNO3 staining. The transmission/disequilibrium test showed exactly the same transmission of alleles from parents to the affected children (37:37). The case-control model also did not reveal any statistical significance in alleles and genotypes distribution between patients and control children. The obtained results suggest that the 4 G/5 G polymorphism of the PAI-I gene is not a risk factor of ischemic stroke in Polish children.

[Progress in tests for cavum septi pellucidi in children and adults]. / Rozwój badan nad torbiela przegrody przezroczystej u dzieci i doroslych.

Persistent cavum septi pellucidi (CSP) is a congenital anomaly of the midline, regarded as a marker of cerebral dysgenesis. It is more commonly encountered in patients with disturbances of intellectual development. Experimental data point to the role of CSP in memory and learning-related processes, and also to its association with disturbances of bioelectric activity of the brain. Various authors emphasize its occurrence in schizophrenia, various motor syndromes and some selective developmental deficits. Of a great significance in the better understanding of CSP will be the assessment of the bilateral brain bioelectric activity in children, as well as neuropsychological evaluation of the very patients at subsequent developmental stages. This will allow for a detailed assessment of their quality of life and neurodevelopmental problems, as well as for an early introduction of thus identified therapeutic management.

[Video electroencephalography in seizure disorders of children]. / Videoelektroencefalografia w stanach napadowych u dzieci.

A total of 225 video-EEG examinations were performed in 179 children with various types of paroxysmal events, including 41 children aged 1-24 months of life and 138 patients aged 3-18 years. The studies were repeated in 25 patients; 80 one-hour recordings, 115 two-hour and 30 three-hour recordings were made. In selected cases EEG stimulating methods were employed, as well as tests provoking psychogenic events. In younger children video-EEG allowed confirming and more precise characterization of seizures in 19 of 41 patients (46.3%), whereas the corresponding number in older children was 17.4% (24 of 138 patients). In two children whose epilepsy was treated surgically, video-EEG was a significant element of preoperative diagnostic management. The use of the method allowed for diagnosing epileptic syndromes, Landau-Kleffner syndrome, reflex epilepsy, photogenic epilepsy and infant myoclonus epilepsy in 11 children. Video-EEG made it possible to rule out epilepsy in 3 of 41 younger children (7.3%) and in 24 of 138 older patients (17.4%). In 10 of 138 patients aged 12-17 years (7.3%), the method facilitated the diagnosis of psychic epilepsy, what allowed for initiation of an appropriate management without the administration of anti-epileptic drugs. In approximately one third of patients, video-EEG evaluation was helpful in selecting appropriate therapy.

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA family from Poland. We found that the patient was in a state of compound heterozygosity. He had one mutant allele with a novel G>A substitution in the conserved splice junction donor site affecting the first base pair of intron 5 (IVS5+1G>A). In the other allele he had a cluster of four single nucleotide substitutions in exon 15: an 1876C>T change (relative to the transcription start site) and three G>T changes (1904G>T, 1909G>T and 1915G>T). All of these mutations change the sense of the codons: H598Y, G607V, E609X and V611L, respectively. Mutations E609X and V611L are novel and unique to the patient family and at least one of them, which creates a premature stop codon in position 609, should have a deleterious effect on the gene function. The other two substitutions H598Y and G607V are most likely rare polymorphisms, which are in linkage disequilibrium. They occur together with an estimated allele frequency of about 6%. Our report increases the spectrum of NTRK1 mutations in CIPA patients and describes an unusual case of a cluster of four mutations located close to each other in one exon.

[Acquired inflammatory neuropathies in children and their therapy]. / Nabyte neuropatie zapalne u dzieci i ich leczenie.

Neuropathies where there is an association with acquired peripheral nerves dysfunction and inflammation include inflammatory neuropathies (IN), as well as sequelae of vaccinations involving peripheral nerves. In a small portion of these diseases central nervous system is involved. In the years 1996-2000, among 22 children with acute flaccid paresis who were hospitalized in the Kraków Department of Paediatric Neurology, there were 16 patients with IN, including 13 with Guillain-Barré syndrome, single cases of Miller-Fisher syndrome, chronic inflammatory demyelinating polyneuropathy involving central nervous system and neuroborreliosis. Additionally, four children were hospitalized for optic neuritis. The author presents data on aetiology, electrophysiology and follow-up of these patients, as well as describes the management and outcome. Apart from their cognitive and practical value, these data significantly correspond with the currently implemented program of poliomyelitis eradication.

[Diagnostic progress in spinal muscular atrophy]. / Postepy w diagnostyce rdzeniowego zaniku miesni.

Progress of diagnostic methods in recognition of spinal muscular atrophy (SMA), the most common degenerative disease of the nervous system in children has been observed in the last years. It has been proved, that all types of SMA, phenotypically variable Werdnig-Hoffman and Kugelberg-Welander diseases are results of homozygous absence of the telomeric copy of SMN gene located on the long arm of chromosome 5; this discovery was very important for mechanisms investigation. Based on the evolution of SMA diagnostic, the results of diagnostic in 18 children hospitalized in the Department of Pediatric Neurology Collegium Medicum of Jagiellonian University are presented. In the years 1995-1997 the basic procedure for confirming the diagnosis of SMA has been muscle biopsy. Molecular studies introduced in 1998 were a chance for confirmation not only classical, but other than three main clinical SMA phenotypes. The molecular analysis performed in children allowed to confirm diagnosis in 7 patients, showing in 5 cases absence of exon 7 of the SMN gene and in 2 children detecting deletions involving SMN and NAIP genes. In the less typical cases the results of molecular analysis were less definite.

[Canavan disease in a young infant]. / Choroba Canavan u mlodego niemowlecia.

This paper shows the clinical status and neuroimaging data in the youngest described Polish child with Canavan disease.

Severe polyneuropathy in a 3-year-old child after dichlorophenoxyacetic herbicide--chwastox intoxication, treated successfully with plasmapheresis (PF).

The clinical picture of intoxication with dichlorophenoxy acetic herbicides is well recognised in adults and some treatment recommendations are established. To the best of our knowledge there is scarcity of well documented cases of intoxication with this substance in children. Our report describes the clinical picture of Chwastox intoxication in a 3-year-old child. Some similarities and differences between adults and children are discussed, as well as the indications for plasmapheresis, which could be a valuable mode of treatment in such cases.

[A case of congenital muscular dystrophy with changes in the white matter of the brain]. / Przypadek wrodzonej dystrofii miesniowej ze zmianami w istocie bialej mózgu.

A case of cerebro-muscular disease is reported in a 5-year-old girl with normal mental development. The changes resembled those in Fukuyama dystrophy, but the clinical picture differs from that dystrophy in normal mental development and absence of other pathological changes in the central nervous system.

[The effect of monotherapy on concentration of selected blood serum hormones and upon cognitive function of children with epilepsy]. / Wplyw monoterapii na stezenie wybranych hormonów w surowicy krwi i sprawnosc umyslowa dzieci chorych na padaczke.

The studies included 64 children with newly diagnosed epilepsy, aged from 6 to 15 years of life. In 25 children with partial and secondary generalized seizures monotherapy with carbamazepine was introduced; in 19 children with primary generalized seizures--with phenobarbital, and in patients with both types of seizures--with primidone. Monotherapy was controlled by means of blood serum drug concentration level monitoring; the therapy was successful in all the children. The group did not include patients with mental retardation, and epilepsy was idiopathic. Prior to the institution of treatment, a single determination of blood serum triiodothyronine, thyroxine, TSH, prolactin, cortisol, LH and testosterone was made. Psychological test were carried out employing Wechsler's scale, Bender-Santucci test, rhythmic structures developed by Mira Stambak and test of manual dexterity (card display). In order to evaluate short-term effects of the employed drugs upon the blood serum concentration values of the studied hormones, a repeated determination was made one month after the initiation of therapy. The third determination was made one year after the onset of treatment in order to assess the long-term effects. The effect of drugs upon their cognitive functions was assessed in a follow-up psychological testing performed after one year of therapy. The studies combined with statistical analysis led to a conclusion that after one month of monotherapy there occurred a significant drop in thyroxine concentration levels, still augmented after one year. Patients treated with carbamazepine showed a significant decrease of T3 levels after one month and one year, whereas treatment with phenobarbital and primidone did not result in significant changes of T3 concentration. Yet, T3 and T4 concentration values did not exceed normal limits. No type of monotherapy resulted in significant long-term changes of TSH concentration levels. No clinical signs of hypothyroidism nor goiter were observed in the studied children. After one month of monotherapy with carbamazepine and phenobarbital there was observed a significant increase of prolactin and cortisol levels, which was absent after one year. The values observed did lie within normal limits. No significant changes were observed with respect to the effect of the studied drugs upon blood serum LH and testosterone levels. After a one-year monotherapy with primidone the children revealed a significant improvement of results measured on performance scale and by means of a full Wechsler scale. Carbamazepine and phenobarbital did not affect the intelligence quotient of the studied children.(ABSTRACT TRUNCATED AT 400 WORDS)

A case of abetalipoproteinaemia in a Polish family.

Abetalipoproteinaemia (ABLP) was diagnosed in a brother and sister, 9 and 13 years old, presenting with symptoms of malabsorption during the neonatal period. Both children showed most of the main clinical features of ABLP, including neurological, and ophthalmic symptoms, and mental retardation. Acanthocytosis of erythrocytes was almost complete in the affected children, while in most of the remaining 11 members of their three-generation family, it was found in less than 50% of red blood cells. Absence of apoprotein B and low concentrations of apo A-I and lipids were found only in ABLP-affected children. Among five siblings only the two affected children had ABLP-characteristic lipid storage in enterocytes. The latter features correlated better with clinical symptoms than did the acanthocytosis of erythrocytes.

[Monotherapy of epileptic children with monitoring of the serum levels of anticonvulsive drugs]. / Monoterapia u dzieci chorych na padaczke z wykorzystaniem monitorowania stezen leków przeciwpadaczkowych w surowicy krwi.

In 46 children with partial and primarily generalized seizures monotherapy was started with amizepine, luminal, mysodin or phenytoin. The treatment was monitored determining serum concentrations of the drugs. Monotherapy was effective in 74% of cases. In 89% of them the duration of treatment was one year, at least. In some children the values of amizepine, luminal and mysodin concentrations below the therapeutic level were effective. The evolution of electroencephalographic changes failed to correspond strictly to the clinical results of the treatment.

[Cerebrospinal fluid prealbumins in children with subacute sclerosing panencephalitis]. / Prealbuminy plynu mózgowo-rdzeniowego u dzieci chorych na podostre stwardniajace zapalenie mozgu.

In the cerebrospinal fluid of 26 children with SSPE the levels of prealbumins and total proteins were determined and electrophoretic separation of proteins was done. The usefulness is discussed of the percent proportion of prealbumins in the cerebrospinal fluid as a criterion indicating damage to the blood-cerebrospinal fluid barrier with increased penetration of proteins in SSPE. It is concluded that in diseases in which biosynthesis occurs of proteins in the central nervous system the percent proportion of prealbumins fails to reflect the integrity of the brain-cerebrospinal fluid barrier.

[Mirror writing in a child]. / Pismo lustrzane u dziecka.

The authors analysed the causes of mirror writing and its evolution in a girl aged 7-9 years. Among the possible causes they consider changing lateralization of extremities, absence of evident predominance of a hemisphere, acquiring of this writing by exercise through imitation with the left hand of the writing movements performed by the right hand, and the possibility of microtrauma of the central nervous system. It is stressed that the mental development was normal and there were on features of developmental dyslexia.

[Tolosa-Hunt syndrome in a child]. / Zespól Tolosy-Hunta u dziecka.

A case of Tolosa-Hunt syndrome is described in a girl aged 2.5 years with a recurrence at the age of 4.5 years. Remissions with slight residual signs were obtained after steroid treatment. The physical state showed participation of the vascular factor and the results of laboratory investigations indicated participation of the inflammatory factor in the aetiopathogenesis of the syndrome.