Antenataalne periventrikulaarne venoosne insult ema rasedusaegse uroinfektsiooni järel

Eesti Arst 2021; 100(9):506–50

Kõnekeskuse lateralisatsioon ja kaugtulemused erineva vaskulaarse alatüübiga perinataalse insuldiga lastel

Eesti Arst 2022; 101(12):71

Ipsilesional volume loss of basal ganglia and thalamus is associated with poor hand function after ischemic perinatal stroke

Background Perinatal stroke (PS) is the leading cause of hemiparetic cerebral palsy (CP). Involvement of the corticospinal tract on neonatal magnetic resonance imaging (MRI) is predictive of motor outcome in patients with hemiparetic CP. However, early MRI is not available in patients with delayed presentation of PS and prediction of hemiparesis severity remains a challenge. Aims To evaluate the volumes of the basal ganglia, amygdala, thalamus, and hippocampus following perinatal ischemic stroke in relation to hand motor function in children with a history of PS and to compare the volumes of subcortical structures in children with PS and in healthy controls. Methods Term born PS children with arterial ischemic stroke (AIS) (n = 16) and with periventricular venous infarction (PVI) (n = 18) were recruited from the Estonian Pediatric Stroke Database. MRI was accuired during childhood (4-18 years) and the volumes of the basal ganglia, thalamus, amygdala and hippocampus were calculated. The results of stroke patients were compared to the results of 42 age- and sex-matched healthy controls. Affected hand function was evaluated by Assisting Hand Assessment (AHA) and classified by the Manual Ability Classification System (MACS). Results Compared to the control group, children with AIS had smaller volumes of the ipsi- and contralesional thalami, ipsilesional globus pallidus, nucleus accumbens and hippocampus (p 0.5; p < 0.05) and larger volume of the contralesional putamen and hippocampus (r < - 0.5; p < 0.05). In children with PVI, size of the ipsilesional caudate nucleus, globus pallidus, thalamus (p 0.55; p < 0.05) in children with PVI. Conclusions Smaller volume of ipsilesional thalamus was associated with poor affected hand function regardless of the perinatal stroke subtype. The pattern of correlation between hand function and volume differences in the other subcortical structures varied between children with PVI and AIS. Evaluation of subcortical structures is important in predicting motor outcome following perinatal stroke.Peer reviewe

Kõnekeskuse reorganisatsioon perinataalse insuldi korral: haigusjuhu kirjeldus

Artiklis on käsitletud 9aastase lapse haigusjuhtu eesmärgiga tutvustada vasema hemisfääri perinataalse insuldi korral kujunevat ajufunktsioonide reorganisatsiooni. Patsiendil teostati funktsionaalne magnetresonantstomograafia (fMRT) motoorse ja sensoorse kõnekeskuse aktivatsioonitestidega. Mõlemad kõnekeskused lokaliseerusid paremas hemisfääris, kusjuures kliiniliselt lapsel kõnehäiret ei esinenud. Eesti Arst 2009; 88(1):52−5

Vastsündinu insult – haigestumus Eestis

Insult vastsündinueas on raske tüsistus, mis on senini olnud aladiagnoositud, kuid tänu radioloogiliste uurimismeetodite täiustumisele on selle diagnoosimine kõikjal sagenenud. Neonataalse insuldi kliinilisele pildile on iseloomulik fokaalsete krampide, apnoehoogude ja teadvushäirete esinemine, hiljem avalduvad lastel hemiparees, epilepsia ning kognitiivsete funktsioonide häired. Eestis tehtud epidemioloogilise uuringu senised tulemused näitavad, et vastsündinuea isheemilise insuldi esmashaigestumus oli aastatel 1998–2002 üks juht 2000 ja 2003. aastal 1 juht 1200 elussünni kohta. Artiklis on käsitletud neonataalse insuldi epidemioloogiat, tekkepõhjusi, riskitegureid ja diagnoosimist. Eesti Arst 2004; 83 (5): 296–30

Long-term neurodevelopmental outcome after perinatal arterial ischemic stroke and periventricular venous infarction

Background: Long-term follow-up data after different vascular types of ischemic perinatal stroke is sparse. Our aim was to study neurodevelopmental outcomes following neonatal and presumed perinatal ischemic middle cerebral artery territory stroke (arterial ischemic stroke, AIS) and periventricular venous infarction (PVI). Methods: A prospective consecutive cohort of 40 term-born children with perinatal stroke (21 AIS, 19 PVI) was identified through the Estonian Paediatric Stroke Database. While 48% of the children with AIS were diagnosed during the neonatal period, all the children with PVI had presumed perinatal stroke. Outcomes based on the Paediatric Stroke Outcome Measure (PSOM) and Kaufman Assessment Battery for Children Second Edition (K-ABC-II), in relation to extent and laterality of stroke, were defined. Results: At a median age of 7 years 6 months (range 3.6-13y), there was a trend towards worse neurodevelopmental outcome in participants with AIS when compared to PVI (mean total PSOM scores 3.1 and 2.2, respectively; p = 0.06). Combined deficits of motor, language and cognitive/behavioural functions were significantly more common among children with AIS (90%) when compared to children with PVI (53%, p = 0.007). General cognitive ability (by K-ABC-II) was significantly lower in the AIS subgroup (mean 79.6; 95% CI 72.3-87.0), but children with PVI (91.6; 95% CI 85.5-97.8) also had poorer performance than the age-equivalent normative mean. Large extent of stroke was associated with poorer neurodevelopmental outcome and lower cognitive performance in children following AIS but not in PVI. Conclusion: In this national cohort, poor long-term neurodevelopmental outcome after perinatal ischemic stroke was seen irrespective of the vascular type or time of diagnosis of stroke. However, the spectrum of neurological deficits is different after perinatal AIS and PVI, with combined deficits more common among children following AIS. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.Peer reviewe

Sinovenoosne tromboos lastel: kirjanduse ülevaade ja kogemus Eestis

Tänu aju piltdiagnostika paranenud võimalustele ning suurenenud teadlikkusele diagnoositakse aju sinovenoosset tromboosi üha sagedamini. Artikli eesmärgiks on anda ülevaade laste sinovenoosse tromboosi esinemisest, sümptomitest, riskiteguritest, diagnoosimisest ja ravist ning kirjeldada Eesti lastel diagnoositud sinovenoosse tromboosi juhte. Sinovenoosset tromboosi esineb nii vastsündinutel kui ka vanematel lastel (vanuses 1 kuu kuni 18 aastat). Väheste epidemioloogiliste uuringute andmetel on sinovenoosse tromboosi haigestumus 0,25–0,67 juhtu 100 000 lapse kohta aastas. Sinovenoosse tromboosi sümptomid on mittespetsiifilised: sagedamini esinevad neuroloogilised üldsümptomid, umbes pooltel haigetest kaasneb ka neuroloogiline koldesümptomaatika. Vastsündinute puhul on sagedasemateks sümptomiteks hingamishäired, krambid, toitmisraskused ja lihashüpotoonia. Enamasti on sinovenoosset tromboosi põhjustav tegur tuvastatav: sagedasemateks põhjusteks on pea- ja kaelainfektsioonid, dehüdratatsioon, omandatud või pärilik trombofiilia; vastsündinute puhul on olulised ka raseduse ja/või sünnitusega seotud tegurid. Aju sinovenoosse tromboosi diagnoosimise valikmeetoditeks on magnetresonantstomograafia koos magnetresonantsvenograafiaga ja kompuutertomograafia (KT) koos KT-venograafiaga. Laste sinovenoosse tromboosi ravi koosneb toetavast sümptomaatilisest ravist ning antikogulantravist. Eestis on aastatel 2005–2011 diagnoositud sinovenoosset tromboosi 5 vastsündinul ja 5 lapsel (keskmine vanus 6,8 aastat). Sümptomid olid valdavalt mittespetsiifilised. Sagedasemateks riskiteguriteks vastsündinueas olid komplitseeritud sünnitus ning kaasasündinud trombofiilia. Lapseea sinovenoosse tromboosi riskiteguriteks olid dehüdratatsioon, mastoidiit, nefrootiline sündroom (omandatud trombofiilia) ja kaasasündinud trombofiilia. 8 juhul 10-st diagnoositi sinovenoosne tromboos nelja päeva jooksul pärast sümptomite tekkimist, kahel juhul diagnoos hilines tunduvalt. Varast antikoagulantravi rakendati 10 patsiendist 6 juhul. Kokkuvõtteks, kuna sinovenoosse tromboosi sümptomid on mittespetsiifi lised, siis tuleb vastsündinute ja laste teadvushäirete ja/või neuroloogiliste sümptomite korral neuroradioloogist uuringut tellides mõelda tromboosi võimalusele aju venoosses süsteemis. Eesti Arst 2012; 91(11):604–60

Resting-State Functional Connectivity and Cognitive Impairment in Children with Perinatal Stroke

Perinatal stroke is a leading cause of congenital hemiparesis and neurocognitive deficits in children. Dysfunctions in the largescale resting-state functional networks may underlie cognitive and behavioral disability in these children. We studied resting-state functional connectivity in patients with perinatal stroke collected from the Estonian Pediatric Stroke Database. Neurodevelopment of children was assessed by the Pediatric Stroke Outcome Measurement and the Kaufman Assessment Battery. The study included 36 children (age range 7.6-17.9 years): 10 with periventricular venous infarction (PVI), 7 with arterial ischemic stroke (AIS), and 19 controls. There were no differences in severity of hemiparesis between the PVI and AIS groups. A significant increase in default mode network connectivity (FDR 0.1) and lower cognitive functions (p <0.05) were found in children with AIS compared to the controls and the PVI group. The children with PVI had no significant differences in the resting-state networks compared to the controls and their cognitive functions were normal. Our findings demonstrate impairment in cognitive functions and neural network profile in hemiparetic children with AIS compared to children with PVI and controls. Changes in the resting-state networks found in children with AIS could possibly serve as the underlying derangements of cognitive brain functions in these children.Peer reviewe

Neurologic phenotypes associated with COL4A1/2 mutations

Objective: To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype–phenotype correlation. Methods: We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations. Results: Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most common phenotype. EEG typically showed focal epileptiform discharges in the context of other abnormalities, including generalized sharp waves or slowing. In 46.4% of new patients with focal seizures, porencephalic cysts on brain MRI colocalized with the area of the focal epileptiform discharges. In patients with porencephalic cysts, brain MRI frequently also showed extensive white matter abnormalities, consistent with the finding of diffuse cerebral disturbance on EEG. Notably, we also identified a subgroup of patients with epilepsy as their main clinical feature, in which brain MRI showed nonspecific findings, in particular periventricular leukoencephalopathy and ventricular asymmetry. Analysis of 15 pedigrees suggested a worsening of the severity of clinical phenotype in succeeding generations, particularly when maternally inherited. Mutations associated with epilepsy were spread across COL4A1 and a clear genotype–phenotype correlation did not emerge. Conclusion: COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying COL4A1/COL4A2 mutations may have important clinical consequences, while for research efforts, omission from large-scale epilepsy sequencing studies of individuals with abnormalities on brain MRI may generate misleading estimates of the genetic contribution to the epilepsies overall

Laste insult Eestis: epidemioloogia ja riskitegurid

Väitekirja elektroonilisest versioonist puuduvad publikatsioonid.Lastel esineb insulti sagedamini, kui üldiselt arvatakse. Laste insuldi uuringute arv on viimastel aastakümnetel tunduvalt kasvanud. Peamised edusammud lapseea insuldi diagnoosimisel on seotud neuroradioloogiliste uurimisvõimaluste olulise paranemisega ja arstkonna suurenenud teadlikkusega lapseea insuldist. Laste insuldi tekkemehhanism jääb tihti ebaselgeks, sest arvestada tuleb paljusid erinevaid riskitegureid. Eestis ja ka mujal Ida-Euroopas puudusid kuni praeguse uurimuseni laste ajuinsuldi epidemioloogiat käsitlevad uuringud. Töö eesmärgiks oli uurida perinataalse ja lapseea insuldi haigestumust, kliinilisi sümptomeid ja riskitegureid. Lisaks veel perinataalse insuldi neuroloogilist hilistulemust, lapseea arteriaalse isheemilise insuldi diagnoosimise kiirust ja kahe enimuuritud tromboosi soodustavate geenimutatsioonide (V hüübismisteguri Leideni mutatsioon ja protrombiini 20210G>A mutatsioon) seost laste isheemilisse insulti haigestumisega. Uurimuse tulemusena selgus, et perinataalse insuldi haigestumus Eestis on 63 juhtu 100 000 ehk 1 juht 1578 elussünni kohta – seda on rohkem kui varem teistes maades kirjeldatud. Lapseea insuldi esmashaigestumus Eestis on 2,73 juhtu 100 000 lapse kohta aastas, mis on sarnane teiste uuringute tulemustega. Ühel kolmandikul perinataalse insuldiga lastest esinevad neuroloogilised sümptomid (krambid, teadvushäire) vastsündinuperioodis (neonataalne insult). Ülejäänud kaks kolmandikku lastest jõuab eriarsti vastuvõtule keskmiselt 8 kuu vanuses peamiselt hemipareesi tõttu (tõenäoline perinataalne insult). Perinataalse insuldi riskiteguriteks olid sagedamini esmassünnitus, erakorraline keisrilõige, Apgari hinne 1. minutil alla 7, preeklampsia ja protrombootilised tegurid. Arteriopaatia, südamepatoloogia ja protrombootilised tegurid esinesid sagedamini lapseea ajuinfarkti korral. Kõigil perinataalse insuldiga lastel esines neuroloogilise jääkleiuna hemiparees. Epilepsia esines ühel kolmandikul nii neonataalse kui ka tõenäoliselt perinataalse insuldiga lastest. Lapseea ajuinfarkti diagnoos hilines keskmiselt 9,2 päeva. V hüübismisteguri Leideni ja protrombiini 20210G>A mutatsioonid suurendavad lastel sinovenoosse tromboosi riski 3 korda.Stroke is an increasingly recognised cause of childhood mortality and long-term neurological morbidity. The number of studies on paediatric stroke has increased over the past decades due to increased recognition and the possibilities of modern neuroradiology. Many disorders and risk factors have been associated with paediatric stroke but the pathogenesis of stroke in children remains is often unclear. Paediatric stroke in Estonia is not investigated earlier and the incidence of stroke among children in this country is unknown. The present study was designed to investigate the incidence rate of paediatric stroke in Estonia and to evaluate the risk factors of paediatric stroke. Additionally, we studied the outcome of perinatal stroke, time lag to the diagnosis of childhood arterial ischemic stroke and the association between Factor V Leiden and prothrombin 20210G>A and paediatric ischemic stroke. Our study revealed that the incidence rate of perinatal stroke in Estonia is 63/100,000 incidence rate of perinatal stroke in Estonia is 63 per 100,000 live births, which is more than estimated in previous studies in other countries. The incidence rate of childhood stroke in Estonia is 2.73/100,000, which is similar to earlier reported data. One-third of patients with perinatal stroke have symptoms (most often seizures) after birth (neonatal stroke). The remaining two-thirds reach medical attention at a mean age of eight months, mostly because of hemiparesis (presumed perinatal stroke). Most frequently identified risk factors of perinatal stroke are primiparity, emergent caesarean section, an Apgar score A mutation have 3.1-fold increased risk to have sinovenous thrombosis