17 research outputs found
Polimorfizam gena endotelne sintaze duÅ”ikova monoksida i perinatalno hipoksiÄno-ishemiÄno oÅ”teÄenje mozga : doktorska disertacija
Cilj: HipoksiÄno-ishemiÄna encefalopatija (HIE) je oÅ”teÄenje mozga, koja se razvija
zbog manjka kisika i poremeÄaja cirkulacije. Kod hipoksije i ishemije u mozgu dolazi do niza
biokemijskih dogaÄaja, izmeÄu ostalog i pojaÄana aktivnost sintaze duÅ”ikova monoksida
(NOS). Aktivacija endotelne NOS (eNOS) ima neuroprotektivu ulogu. Cilj istraživanja je
utvrditi povezanost mutacija polimorfizama gena za NOS3 s HIE.
Ispitanici i metode: Ova studija ukljuÄila je 110 djece (69 djeÄaka i 41 djevojÄica) s
hipoksiÄno-ishemiÄnim (HI) oÅ”teÄenjem mozga i kontrolnu skupinu od 128 djece (60 djeÄaka
i 68 djevojÄica) roÄenih u 16-godiÅ”njem periodu na podruÄju Dalmacije ā Hrvatska. Djeca s
HI oÅ”teÄenjem mozga ispunjavala su dijagnostiÄke kriterije za perinatalnu asfiksiju.
Analizirali smo 6 tag SNP-ova NOS3 gena (rs3918186, rs3918188, rs1800783, rs1808593,
rs3918227, rs1799983), i dva funkcionalna polimorfizma istog gena SNP rs1800779 i
rs2070744. Polimorfizmi su analizirani metodom real-time PCR. Asocijacijska analiza
napravljena je na razini alelske i genotipske distribucije.
Rezultati: Genotipiziranjem je utvrÄena je povezanost rs1808593 tag SNP-a s
hipoksiÄno-ishemiÄnim oÅ”teÄenjem mozga (p=0.03). Analizom omjera izgleda (engl. odd
ratio ā OR) genotipova osam polimorfizama uoÄena je veÄa uÄestalost TT genotipa
polimorfizma rs1808593 (-10G/T u intronu 23) u djece s hipoksiÄno-ishemiÄnim oÅ”teÄenjem
mozga [OR 1.06 (95% CI 1.0-1.1) p=0.025]. UtvrÄena je povezanost TGT haplotipa
polimorfizama rs1800783 (-1474T/A), rs1800779 (-922 A/G) i rs2070744 (-786T/C) s
hipoksiÄno-ishemiÄnim oÅ”teÄenjem mozga (p=0.001). Distribucijom genotipova ispitivanih
polimorfizma s obzirom na kliniÄke parametre utvrÄena je povezanost TT genotipa
polimorfizma rs1808593 s patoloÅ”kim nalazom magnetske rezonancije. UoÄena je veÄa
uÄestalost AA genotipa polimorfizma rs3918186 u ispitanika s urednim Apgar indeksom.
Analizom povezanosti alelske distribucije svih osam ispitivanih polimorfizama nije dobivena
statistiÄki znaÄajna povezanost s HIE. Analizom distribucije alela ispitivanih polimorfizama s
obzirom na kliniÄke parametre utvrdili smo da je T alel SNP-a rs1808593 uÄestaliji u djece s
niskim AS (p=0.015). Drugi polimorfizmi nisu pokazali povezanost distribucije alela i
genotipova s kliniÄkim parametrima.
ZakljuÄak: Usprkos ograniÄenom broju ispitanika s HIE Å”to umanjuje statistiÄku
snagu studije, utvrdili smo genotipsku i haplotipsku povezanost polimorfizma NOS3 gena s
hipoksiÄno-ishemiÄnim oÅ”teÄenjem mozga.Aim: Perinatal hypoxic-ischemic encephalopathy (HIE) is characterized with
impaired cerebral circulation and increased activity of nitric oxide synthase (NOS).
Activation of the eNOS in endothelial cells has a neuroprotective role. Aim of this study was
to test the association of NOS3 gene with HIE.
Patients and Methods: The study included 110 unrelated term or preterm born
children (69 boys and 41girls) with HIE and 128 term and preterm born children (60 boys and
68 girls) without any neurological problems after two years. Children with perinatal HIE
fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the
Clinical Hospital Split between 1992 and 2008. We analyzed 6 tagging SNPs within NOS3
gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983), in addition to
previously confirmed NOS3-associated SNP rs1800779 and rs2070744. Genotyping was
conducted using real-time polymerase chain reaction (PCR). Association analyses were
performed according to allelic and genotypic distribution.
Results: Genotypic test detected association of rs1808593 tag SNP with HIE
(p=0.03). We found that TT genotype SNP rs1808593 (-10G/T intron 23) was more common
in HIE [OR 1.06 (95% CI 1.0-1.1) p=0.025]. We found that the TT genotype of SNP rs
1808593 is more frequent in children with brain damage confirmed by MRI (p=0,015). We
also found that the genotype AA of SNP rs 3918186 is more frequent in children with normal
Apgar score (p=0,025). We also observed rs1800783-rs1800779-rs2070744 TGT haplotype
association with HIE (p=0.001). Allelic test did not observe any SNP association with HIE.
We found that the T allele of SNP rs1808593 is more frequent in children with low Apgar
score (p=0.015).
Conclusion: Despite the limited number of HIE patients that reduced the statistical
power of this study, we observed genotypic and haplotype associations of NOS3
polymorphisms with HIE
Polimorfizam gena endotelne sintaze duÅ”ikova monoksida i perinatalno hipoksiÄno-ishemiÄno oÅ”teÄenje mozga : doktorska disertacija
Cilj: HipoksiÄno-ishemiÄna encefalopatija (HIE) je oÅ”teÄenje mozga, koja se razvija
zbog manjka kisika i poremeÄaja cirkulacije. Kod hipoksije i ishemije u mozgu dolazi do niza
biokemijskih dogaÄaja, izmeÄu ostalog i pojaÄana aktivnost sintaze duÅ”ikova monoksida
(NOS). Aktivacija endotelne NOS (eNOS) ima neuroprotektivu ulogu. Cilj istraživanja je
utvrditi povezanost mutacija polimorfizama gena za NOS3 s HIE.
Ispitanici i metode: Ova studija ukljuÄila je 110 djece (69 djeÄaka i 41 djevojÄica) s
hipoksiÄno-ishemiÄnim (HI) oÅ”teÄenjem mozga i kontrolnu skupinu od 128 djece (60 djeÄaka
i 68 djevojÄica) roÄenih u 16-godiÅ”njem periodu na podruÄju Dalmacije ā Hrvatska. Djeca s
HI oÅ”teÄenjem mozga ispunjavala su dijagnostiÄke kriterije za perinatalnu asfiksiju.
Analizirali smo 6 tag SNP-ova NOS3 gena (rs3918186, rs3918188, rs1800783, rs1808593,
rs3918227, rs1799983), i dva funkcionalna polimorfizma istog gena SNP rs1800779 i
rs2070744. Polimorfizmi su analizirani metodom real-time PCR. Asocijacijska analiza
napravljena je na razini alelske i genotipske distribucije.
Rezultati: Genotipiziranjem je utvrÄena je povezanost rs1808593 tag SNP-a s
hipoksiÄno-ishemiÄnim oÅ”teÄenjem mozga (p=0.03). Analizom omjera izgleda (engl. odd
ratio ā OR) genotipova osam polimorfizama uoÄena je veÄa uÄestalost TT genotipa
polimorfizma rs1808593 (-10G/T u intronu 23) u djece s hipoksiÄno-ishemiÄnim oÅ”teÄenjem
mozga [OR 1.06 (95% CI 1.0-1.1) p=0.025]. UtvrÄena je povezanost TGT haplotipa
polimorfizama rs1800783 (-1474T/A), rs1800779 (-922 A/G) i rs2070744 (-786T/C) s
hipoksiÄno-ishemiÄnim oÅ”teÄenjem mozga (p=0.001). Distribucijom genotipova ispitivanih
polimorfizma s obzirom na kliniÄke parametre utvrÄena je povezanost TT genotipa
polimorfizma rs1808593 s patoloÅ”kim nalazom magnetske rezonancije. UoÄena je veÄa
uÄestalost AA genotipa polimorfizma rs3918186 u ispitanika s urednim Apgar indeksom.
Analizom povezanosti alelske distribucije svih osam ispitivanih polimorfizama nije dobivena
statistiÄki znaÄajna povezanost s HIE. Analizom distribucije alela ispitivanih polimorfizama s
obzirom na kliniÄke parametre utvrdili smo da je T alel SNP-a rs1808593 uÄestaliji u djece s
niskim AS (p=0.015). Drugi polimorfizmi nisu pokazali povezanost distribucije alela i
genotipova s kliniÄkim parametrima.
ZakljuÄak: Usprkos ograniÄenom broju ispitanika s HIE Å”to umanjuje statistiÄku
snagu studije, utvrdili smo genotipsku i haplotipsku povezanost polimorfizma NOS3 gena s
hipoksiÄno-ishemiÄnim oÅ”teÄenjem mozga.Aim: Perinatal hypoxic-ischemic encephalopathy (HIE) is characterized with
impaired cerebral circulation and increased activity of nitric oxide synthase (NOS).
Activation of the eNOS in endothelial cells has a neuroprotective role. Aim of this study was
to test the association of NOS3 gene with HIE.
Patients and Methods: The study included 110 unrelated term or preterm born
children (69 boys and 41girls) with HIE and 128 term and preterm born children (60 boys and
68 girls) without any neurological problems after two years. Children with perinatal HIE
fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the
Clinical Hospital Split between 1992 and 2008. We analyzed 6 tagging SNPs within NOS3
gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983), in addition to
previously confirmed NOS3-associated SNP rs1800779 and rs2070744. Genotyping was
conducted using real-time polymerase chain reaction (PCR). Association analyses were
performed according to allelic and genotypic distribution.
Results: Genotypic test detected association of rs1808593 tag SNP with HIE
(p=0.03). We found that TT genotype SNP rs1808593 (-10G/T intron 23) was more common
in HIE [OR 1.06 (95% CI 1.0-1.1) p=0.025]. We found that the TT genotype of SNP rs
1808593 is more frequent in children with brain damage confirmed by MRI (p=0,015). We
also found that the genotype AA of SNP rs 3918186 is more frequent in children with normal
Apgar score (p=0,025). We also observed rs1800783-rs1800779-rs2070744 TGT haplotype
association with HIE (p=0.001). Allelic test did not observe any SNP association with HIE.
We found that the T allele of SNP rs1808593 is more frequent in children with low Apgar
score (p=0.015).
Conclusion: Despite the limited number of HIE patients that reduced the statistical
power of this study, we observed genotypic and haplotype associations of NOS3
polymorphisms with HIE
Diagnostic, clinical and therapeutic challenges in patients with Duchenne muscular dystrophy ā patient series reports
Duchenneova miÅ”iÄna distrofija najÄeÅ”Äa je miÅ”iÄna distrofija koja se javlja u djece. Cilj istraživanja: Procijeniti pravodobno prepoznavanje kliniÄke slike, provoÄenje multidisciplinskog pristupa prema najnovijim smjernicama te analizirati kliniÄki tijek u oboljelih na suvremenoj terapiji. Materijali i metode: Retrospektivnom analizom medicinske dokumentacije izdvojeni su bolesnici s distrofinopatijama. Izdvojeni su podatci o kliniÄkom tijeku bolesti, kliniÄkoj slici u trenutku postavljanja dijagnoze, metodama njene potvrde, tipovima mutacija i terapiji koju primaju. Rezultati: U istraživanje je ukljuÄeno ukupno devet ispitanika, osam s dijagnozom Duchenneove i jedan s dijagnozom Beckerove miÅ”iÄne distrofije. Dob pri postavljanju dijagnoze Duchenneove miÅ”iÄne distrofije bila je u rasponu izmeÄu dvije i Å”est i pol godina, dok je kod ispitanika s Beckerovom miÅ”iÄnom distrofijom postavljena u dobi od jedanaest godina. Od tipova mutacija Äetvorica ispitanika ima delecije, trojica duplikacije i dvojica toÄkaste mutacije. Samostalno pokretna su Å”estorica ispitanika, dok su trojica ovisna o uporabi kolica. PluÄna funkcija uredna je kod sedmorice ispitanika, dok su dvojica razvila kroniÄnu pluÄnu insuficijenciju i kod njih se primjenjuju metode neinvazivne ventilacije. Na glukokortikoidnoj terapiji ukupno je Å”estorica ispitanika i svi primjenjuju deflazacort. ZakljuÄak: Pacijenti s Duchenneovom miÅ”iÄnom distrofijom uz osnovnu progresivnu slabost miÅ”iÄa, razvijaju i komplikacije drugih organskih sustava, Å”to zahtijeva multidisciplinsku skrb. Pojava genske terapije kao uzroÄne terapije Duchenneove miÅ”iÄne distrofije stavila je dodatni naglasak na Å”to ranijem postavljanju dijagnoze. Time se postiže dodatno produljenje životnog vijeka te podizanje kakvoÄe života u bolesnika s Duchenneovom miÅ”iÄnom distrofijom.The aim of the study was to assess timely recognition of clinical characteristics and implementation of a multidisciplinary approach
according to the latest guidelines, and to analyse clinical course in patients on gene therapy. The research was designed as a crosssectional and retrospective study. Patients with dystrophinopathies and their contacts were singled out by retrospective analysis of
medical documentation. Data on current age, age at diagnosis, type of mutations, methods of confi rming the diagnosis, clinical
picture and therapy administered were extracted. Nine subjects were included in the study, eight with the diagnosis of Duchenne
muscular dystrophy (DMD) and one with the diagnosis of Becker muscular dystrophy (BDM). The age at diagnosis of DMD ranged
between two and six and a half years, while in the subject with BMD it was set at the age of eleven. Considering types of mutations,
four patients had deletions, three of them duplications and two of them point mutations. Six subjects were mobile independently,
while three subjects were dependent on wheelchair use. Pulmonary function was normal in seven subjects, while two developed
chronic pulmonary insuffi ciency and used non-invasive ventilation methods. Six subjects were on glucocorticoid therapy and all
were using defl azacort. In conclusion, patients with DMD, in addition to basic progressive muscle weakness, also develop complications of other organ systems, which requires multidisciplinary care. The advent of gene therapy as a causal therapy for DMD has
placed additional emphasis on diagnosing the disease as early as possible. This achieves an additional prolongation of life expectancy and increase in the quality of life in patients with DMD
Duchenne Muscular Dystrophy: Clinical and Therapeutic Approach
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are dystrophinopathies, a group of muscular dystrophies caused by mutations in the dystrophin gene. Duchenne muscular dystrophy is the most common muscular dystrophy that occurs in children. A mutation in the DMD gene leads to a loss of expression of the dystrophin protein, a subsarcolemmal protein that provides strength, stability, and functionality to the myofibrils. Patients with dystrophinopathies with basic progressive weakness of the musculoskeletal system develop complications of many organ systems that significantly contribute to the deterioration of the clinical condition and shorter life expectancy. Multidisciplinary care has extended the patientsā life expectancy and the development of subspecialist branches has enabled the improvement of diagnostic methods and treatment. Recently, therapeutic options in the treatment of DMD have advanced significantly, and new genetic and molecular therapies are emerging. The advent of gene therapy as a causal therapy for DMD has placed additional emphasis on diagnosing and treating the disease as early as possible. This achieves an additional prolongation of life expectancy, increases the quality of life in patients with DMD, and provides hope for patients and their families
Neurological manifestations and complications of autoimmune gastrointestinal diseases in children
Upalna bolest crijeva i celijakija autoimune su bolesti kojima su crijeva zajedniÄki specifiÄni ciljni organ, ali obje se smatraju sistemskim bolestima koje se mogu manifestirati i izvanintestinalnim simptomima. Cilj istraživanja: Istražiti uÄestalost neuroloÅ”kih poremeÄaja sa celijakijom i upalnom bolesti crijeva u djeÄjoj i adolescentnoj dobi. Materijali i metode: Istraživanje je provedeno retrospektivno prikupljanjem podataka u Klinici za djeÄje bolesti KBC-a Split u razdoblju od 1. sijeÄnja 2015. do 31. prosinca 2019. U istraživanje je ukljuÄeno 122-je bolesnika s dijagnozom upalne bolesti crijeva ili celijakije. Ispitanicima su analizirani podatci: spol i dob prilikom dijagnoze autoimune bolesti crijeva, prisutnost i tip neuroloÅ”kih simptoma te dob u kojoj je doÅ”lo do manifestacije. Rezultati: NajviÅ”e bolesnika je bolovalo od Crohnove bolesti (35,2%), potom od ulceroznog kolitisa (30,3%) te celijakije (27,9%). Udio djece s neuroloÅ”kim simptomima u skupini oboljelih od celijakije je 32,4%, ulceroznog kolitisa 16,2% i Crohnove bolesti 4,7%. Udio neuroloÅ”kih simptoma u istraživanoj skupini je veÄi kod oboljelih od celijakije nego kod oboljelih od upalnih bolesti crijeva i postoji statistiÄki znaÄajna povezanost neuroloÅ”kih simptoma s vrstom bolesti (P=0,005). NajÄeÅ”Äi neuroloÅ”ki simptom u istraživanoj skupini je glavobolja, a ostale neuroloÅ”ke manifestacije su: epilepsija, cerebrovaskularna bolest, pervazivni razvojni poremeÄaj, zastoj u psihomotornom razvoju i tikovi. ZakljuÄak: Upalne bolesti crijeva i celijakija kroniÄne su bolesti kojima je potrebno dugoroÄno praÄenje lijeÄnika gastroenterologa, ali iako neuroloÅ”ke manifestacije nisu uÄestale, odreÄeni dio bolesnika ih ima ili Äe ih razviti, stoga je važno pravodobno prepoznavanje, a može biti potrebno i dugoroÄno praÄenje neurologa i u odrasloj dobi.The aim was to investigate the association of neurological disorders with celiac disease and infl ammatory bowel disease (Crohnās
disease, ulcerative colitis and indeterminate colitis) in children and adolescents. The research was conducted retrospectively by
collecting data from available hospital documentation at Department of Paediatrics, Split University Hospital Centre, during the
period from January 1, 2015 to December 31, 2019. The study included 122 patients diagnosed with infl ammatory bowel disease or
celiac disease. The following data were analysed: sex and age at the time of autoimmune bowel disease diagnosis, presence and
type of neurological symptoms, and age at the onset of disease manifestation. The greatest proportion of patients suff ered from
Crohnās disease (35.2%), followed by ulcerative colitis (30.3%) and celiac disease (27.9%). The proportion of children with neurological
symptoms was 32.4% in patients with celiac disease, 16.2% in those with ulcerative colitis and 4.7% in those with Crohnās disease. The
proportion of children with neurological symptoms was higher in patients with celiac disease than in those with infl ammatory
bowel disease, and there was a statistically signifi cant association of neurological symptoms with the type of disease (p=0.005). The
most common neurological symptom in the study group was headache; other neurological manifestations were epilepsy, cerebrovascular disease, pervasive developmental disorder, psychomotor developmental delay and tics. In conclusion, infl ammatory bowel
diseases and celiac disease are chronic diseases that require long-term follow-up by a gastroenterologist; however, although neurological manifestations are uncommon, some patients develop them, so timely recognition is important, and long-term follow-up by
neurologists may be necessary in adulthood
Inovativne terapije redefiniraju terapijske ciljeve u multiploj sklerozi
The treatment of multiple sclerosis (MS) is becoming more complex, especially with the expanding number of available therapies for relapsing forms of MS. Greater understanding of the degenerative aspects of MS pathogenesis is redefining treatment goals and creating new treatment strategies. The existing immunomodulation drugs (disease-modifying therapies, DMTs) used in MS treatment have shown only partial benefits in controlling disease progression, primarily by reducing the inflammation component. However, new therapies for MS have been shown to be effective in delaying disease progression by protecting against brain atrophy, which is considered
the most important preindicator of future patient disability. The favorable effect on reducing brain atrophy suggests the potential neuroprotective or even neuroregenerative effects of new treatments,
marking progress in the treatment of MS.LijeÄenje multiple skleroze (MS) postaje sve složenije, naroÄito zbog rastuÄeg broja dostupnih terapija za relapsni oblik MS. Sve bolje razumijevanje degenerativnog aspekta patogeneze MS redefinira terapijske ciljeve i stvara nove terapijske strategije. DosadaÅ”nji
imunomodulacijski lijekovi (disease-modifying therapies, DMTs) u terapiji MS pokazuju samo djelomiÄnu korist u kontroli progresije bolesti, prvenstveno smanjujuÄi upalnu komponentu. MeÄutim, nove terapije u MS pokazuju djelotvoran uÄinak na odgaÄanje progresije
bolesti Å”titeÄi od atrofije mozga koja se smatra najvažnijim predskazateljem buduÄeg invaliditeta bolesnika. Pozitivan utjecaj na
smanjenje atrofije mozga ukazuje na potencijalno neuroprotektivno ili Äak neuroregenerativno djelovanje novih terapija, Å”to predstavlja
korak naprijed u lijeÄenju MS
The Floppy Infant : Evaluation of Hypotonia
Hipotonija u novoroÄenÄadi i dojenÄadi predstavlja dijagnostiÄki izazov za neonatologe i pedijatre, buduÄi da je to kliniÄki simptom koji upuÄuje na dobroÄudna, ali i ozbiljna stanja. Diferencijalna dijagnoza neonatalne i dojenaÄke hipotonije jest opsežna, a metodiÄan pristup pomaže u lokalizaciji problema na odreÄeni dio živÄanog sustava i formuliranju diferencijalne dijagnoze. Postavljanje dijagnoze pomaže u planiranju lijeÄenja i informiranju roditelja o prognozi. Ovaj pregledni Älanak predstavlja strukturirani pristup koji naglaÅ”ava poÄetnu
procjenu, pregled i lijeÄenje novoroÄenÄeta i dojenÄeta s generaliziranom hipotonijom.Hypotonia in newborns and infants represents a diagnostic challenge for neonatologists and pediatricians, since it is a clinical symptom that points to benign as well as serious conditions. The differential diagnosis of neonatal and infant hypotonia is extensive, and a methodical approach helps in localizing the problem to a specific part of the nervous system and formulating a differential diagnosis. Establishing a diagnosis helps in planning treatment and informing parents about the prognosis. This review article presents a structured approach that emphasizes the initial assessment, examination, and management of the neonate and infant with generalized
hypotonia
Analysis of the C609T Polymorphism of NQO1 Gene in South Croatian Patients with Hematological Malignancies
In this study we analyzed the effect of polymorphic variation of NAD(P)H: quinone oxidoreductase1 (NQO1) gene that
encode enzyme which detoxifies harmful quinines and protect hematopoietic stem cells against oxidative stress. C609T
polymorphism of NQO1 gene leads to loss of enzyme activity, which may be a risk factor in the etiology of specific types of
hematopoietic malignancies.We analyzed C609T polymorphism in NQO1 gene in the group of 82 patients (56 adult and
26 children) with different type of hematopoietic malignancies and 99 healthy participants (61 adult and 38 children)
using PCR and the RFLP method. We confirmed that the polymorphism C609T in NQO1 gene was more frequent in the
adult patientsā group with myeloid disorders, (p=0.0267) compared with adult controls.We could not confirm the association
C609T polymorphism with recurrent chromosome translocations (clonal karyotype changes) neither in the adult
nor in pediatric group of patients
West Syndrome with Periventricular Leukomalacia: Ten-year Clinical Study
The aim of the study was to evaluate magnetic resonance imaging (MRI) findings in infants with periventricular
leukomalacia (PVL) andWest syndrome (WS) and determine the neurodevelopmental outcome in children withWest syndrome
and PVL. Ultrasound and brain MRI were performed in 37 infants with recognized PVL. PVL was categorized according
to De Vries, whereas West syndrome was categorized according to International League Against Epilepsy 1989.
West syndrome in our patients developed during the first 2 years of life. The most common interictal abnormality was
hypsarrhythmia. All, except two patients had delayed development and various degrees of mental retardation.The most
characteristic neuroimaging findings were major reduction in cerebral cortical gray matter volume, reduction in the volume
of brain myelin, and delayed myelination. These findings may explain the anatomical association between the West
syndrome onset and PVL and intellectual and cognitive deficit in premature infants with PVL
Neurodevelopmental Outcome in Children with Periventricular Leukomalacia
The purpose of this study was to question the correlation of different grades of periventricular leukomalacia (PVL)
and subsequent neurodevelopmental outcome. In a prospective study we followed 52 preterm infants. Infants were divided
into three groups according to their cranial ultrasound findings of PVL (De Vries classification). Seventeen children
had PVL 1, 20 children had PVL 2, and 15 children had PVL 3. All 15 (100%) children with PVL 3 developed cerebral
palsy with additional visual perceptual dysfunctions and epilepsy. Children with PVL 1 had high frequency of mild
neuromotoric delay and visual impairment. PVL 2 and 3 have great predictive value for subsequent severe neurodevelopmental
disorder which refers to cerebral palsy, different cognitive deficits, vision impairment and epilepsy. We have
determined that due to high frequency of visual impairment and epilepsy we need to include neurophysiologic examinations
very early in children with PVL lesions