Summary
We represent the case of a premature twin neonate born from uncomplicated pregnancy who developed seizures at the age of 24 h. Two-dimensional ultrasound and magnetic resonance imaging ...revealed left-sided hemimegalencephaly. Further extensive diagnostic evaluation revealed a diagnosis of Ohtahara syndrome. Resistance of the seizures to antiepileptic therapy led to hemispherotomy that was performed at the age of 10 months. Our patient is now a 4-year-old child, walking, eating without a nasogastric tube, still with right hemiparesis and lateral strabismus but without seizures.
To evaluate visual impairment (VI) in children with cerebral palsy (CP).
This population-based study included 419 children from the Surveillance of Cerebral Palsy in Europe (SCPE) C28 RCP-HR - ...Register of Cerebral Palsy of Croatia born 2003-2008. Vision in children with CP (according to SCPE) was classified as normal or impaired, with the subcategory of severe VI. The proportion of children with VI was assessed in groups with different CP type/subtype, gross and fine motor function, and gestational age (GA).
A total of 266 children had some degree of VI (266/400; 66.5%), 134 had normal vision, and data on VI were unknown for 19 children. Severe VI was present in 44 children (44/400; 11%). The proportion of children with VI and severe VI increased with the Gross Motor Function Classification System and Bimanual Fine Motor Function levels. Children with bilateral spastic CP had the highest frequency of severe VI (14.9%). The percentage of severe VI in children with bilateral spastic CP was 53.8% in the group born <28 weeks of GA, 13.3% in the group born 28-31 weeks of GA, 11.1% in the group born 32-36 weeks of GA, and 24.4% in the group born >36 weeks of GA (λ2=4.95; df=6; P<0.001).
Children with CP have a high prevalence of VI and severe VI, which is increasing with the level of motor impairment. Severe VI is significantly more common in children with bilateral spastic CP, especially among extremely premature infants.
Moždani udar (MU) je teško neurološko oštećenje, udruženo sa značajnim morbiditetom i mortalitetom. Spada među prvih deset uzroka smrti u djece i stoga zahtijeva hitnu dijagnozu, slikovne pretrage ...mozga i brzo liječenje u zadanom vremenskom okviru. Postavljanje dijagnoze IMU u djece je teško i izazovno, zbog zbog raznolike i nepatognomonične prezentacije. Zahvaljujući provođenju protokola za IMU u djece, smjernica za dijagnosticiranje moždanog udara (prvenstveno magnetske rezonancije), uspostavi pedijatrijskih centara za moždani udar i specifičnoj terapiji za visokorizične bolesnike, ukupna smrtnost od IMU u djece se smanjuje, unatoč porastu incidencije zadnjih desetljeća. Dakle, glavni cilj je rano prepoznavanje IMU, standardizirani pristup i rana terapija (individualni pristup od slučaja do slučaja) u visokorizičnih pacijenata. Novija saznanja o neaterosklerotskim arteriopatijama, koje su u djetinjstvu najčešći uzrok IMU i koje predstavljanju najvažniji prediktor rekurentnog IMU u djece, zahtijevaju nove longitudinalne i multicentrične studije koje će vjerojatno pridonijeti boljem razumijevanju infektivnih, parainfektivnih i upalnih mehanizama IMU u djetinjstvu i razvoju prediktivnih biomarkera
progresije bolesti.
To assess the role of human platelet antigens (HPA), P-selectin gene (SELP) polymorphisms, and HPA and SELP haplotypes with factor V (FV) R506Q in ischemic pediatric stroke (IPS) subtypes: cerebral ...sinovenous thrombosis (CSVT), perinatal (PAIS), and childhood (CAIS) arterial ischemic stroke.
This case-control study enrolled 150 children with confirmed IPS and 150 age- and sex-matched controls. FV R506Q and HPA-1 were genotyped with CVD StripAssay®, HPA-2 and HPA-3 with real-time polymerase chain reaction, SELP S290N, V599L, and T715P with high resolution melting analysis, and SELP N562D with sequence-specific polymerase chain reaction.
HPA-1b allele (odds ratio OR 2.75, 95% confidence interval CI 1.02-7.42, P=0.048) and HPA-1a2a3b (OR 5.46, 95% CI 1.51-19.76, P=0.011), HPA-1b2a3a (OR 7.00, 95% CI 1.25-39.13, P=0.028), and HPA-1b2b3a (OR 11.39, 95% CI 1.39-92.95, P=0.024) haplotypes increased the risk for CSVT. HPA-3b allele was significantly associated with 2-fold lower risk for PAIS (OR 0.49, 95% CI 0.26-0.89, P=0.020) and CAIS (OR 0.47, 95% CI 0.26-0.86, P=0.014) and non-significantly associated with increased risk for CSVT (OR 6.43, 95% CI 0.83-50.00, P=0.022). HPA-1a2b3a haplotype was significantly associated with CAIS (OR 6.76, 95% CI 2.13-21.44, P=0.001). The inclusion of FV R506Q in SELP haplotype analysis increased the risk for PAIS 4-fold in QNDVT carriers (OR 8.14, 95% CI 0.93-71.33, P=0.060) compared with NDVT haplotype (OR 2.45, 95% CI 0.98-6.18, P=0.058), but the result was not significant.
Individual HPAs, and particularly HPA haplotypes, are involved in IPS subtypes pathogenesis. A possible risk-inducing synergistic effect of SELP haplotypes with FV R506Q is restricted to PAIS only.
To determine the frequency of inherited and acquired prothrombotic risk factors in children with arterial ischemic stroke (AIS) and transient ischemic attacks (TIA) in Croatia.
We investigated 14 ...prothrombotic risk factors using blood samples from 124 children with AIS or TIA and 42 healthy children. Prothrombotic risk factors were classified into five groups: natural coagulation inhibitors (antithrombin, protein C, protein S), blood coagulation factors (FV Leiden and FII 20210), homocysteine, lipid and lipoprotein profile (lipoprotein (a), triglycerides, total, high- and low-density lipoprotein), and antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, and antiphosphatidylserine antibodies).
The most common prothrombotic risk factor was elevated lipoprotein (a), which was identified in about 31% of patients and in 24% of controls. Natural coagulation inhibitors were decreased in about 19% of patients, but not in controls. Pathological values of homocysteine, blood coagulation factor polymorphisms, and antiphospholipid antibodies were found in similar frequencies in all groups. Fourteen children with AIS and TIA (11.3%) and no children from the control group had three or more investigated risk factors.
The presence of multiple prothrombotic risk factors in children with cerebrovascular disorder suggests that a combination of risk factors rather than individual risk factors could contribute to cerebrovascular disorders in children.
Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections, oculocutaneous telangiectasia, ...radiosensitivity, early aging, and increased incidence of cancer.
We report the case of an 8-year-old boy affected by A-T. At 12 months of age, he had a waddling gait, with his upper body leaning forward. Dystonic/dyskinetic cerebral palsy was diagnosed at the age of 3 years. At age 6 he was diagnosed with asthma based on recurrent wheezing episodes. A-T was confirmed at the age 8 years on the basis of clinical signs and laboratory findings (increased alpha fetoprotein--AFP, immunodeficiency, undetectable ataxia-telangiectasia mutated (ATM) protein on immunoblotting, and identification A-T mutation, 5932G>T).
The clinical and immunological presentation of ataxia-telangiectasia (A-T) is very heterogeneous and diagnostically challenging, especially at an early age, leading to frequent misdiagnosis.
We aimed to examine inherited thrombophilia frequencies by extending genetic profile to previously rarely or not investigated polymorphisms in children with ischemic pediatric stroke (IPS) and their ...parents.
The study included 33 children: 23 with perinatal arterial ischemic stroke (PAIS), eight with childhood arterial ischemic stroke (CAIS), and two with sinovenous thrombosis and their parents (33 mother-child, 12 father-child, and 12 mother-father-child pairs). Genotyping of FV-Leiden, FV-H1299R, FII-G20210A, β-fibrinogen-455G>A, FXIII-A-Val34Leu, PAI-1(4G/5G), HPA-1, MTHFR-C677T, MTHFR-A1298C, ACE(I/D), and APOE(ε2-4) was performed using CVD Strip assay (ViennaLab, Austria).
At least one and up to seven simultaneously present polymorphisms were observed in all children with IPS, mothers, and fathers. More than five simultaneously present polymorphisms were identified threefold more frequently in children with IPS (10 of 33; 30%) compared with the child control group (17 of 150; 11%), yielding a statistically significant difference between the two groups (odds ratio OR = 3.40; 95% confidence interval CI = 1.39 to 8.35; P = 0.012). Stronger association was revealed for PAIS (OR = 4.17; 95% CI = 1.55 to 11.29; P = 0.008) and CAIS subgroups (OR = 7.82; 95% CI = 1.79 to 34.20; P = 0.012). Complete match of polymorphisms was not identified in any parent-child pair. A partial match (one to four mutual polymorphisms) was found in 11 of 12 parent-child pairs where until three mutual polymorphisms was present in 11 of 12 (91.7%) father-child compared with 21 of 33 (63.6%) mother-child pairs.
According to obtained results the simultaneous presence of more than five polymorphisms is associated with a higher risk for IPS occurrence, suggesting the risk enhancement for PAIS in the presence of pregnancy complications or for CAIS in conjunction with maternal comorbidity and positive family history. The presence of up to three mutual polymorphisms more frequently in father-child than mother-child pairs suggests significant paternal contribution of inherited thrombophilia to increased risk of IPS.
Electrical status epilepticus in sleep (ESES) is defined as an age related, self-limited epileptic encephalopathy. It is characterized by heterogeneous clinical manifestations and a specific ...electroencephalographic (EEG) pattern of continuous spikes and waves during slow sleep (CSWS)ObjectiveThe aim of this study was to describe the electroclinical spectrum in children with electrical status epilepticus in sleep (ESES), and assessment of treatment pattern.MethodsClinical data of 16 patients with ESES/CSWS syndrome who were treated and followed at least two years were analyzed. Inclusion criteria were as follows: (1) Determination of the ESES pattern on the EEG and a (2) follow-up period of two to four years. All patients underwent a clinical evaluation including history, physical and neurological examinations, sleep and awake EEGs, and brain MRI. Patients with an underlying etiology were classified as symptomatic while others were classified as idiopathic.Records of EEGs of patients were reevaluated to determine two aspects of ESES: (1) The spike–wave index (SWI) on the NREM sleep EEG and (2) the area of maximum amplitude of continuous epileptic activity. The SWI on the NREM sleep EEG during the ESES period was visually calculated. The ranges of the SWI considered were as follows: N85– 100% (typical ESES) and 50–85% (atypical ESES). We also defined the ESES pattern as anterior if the maximum amplitude of spike–waves was in the frontal, frontocentral, or frontotemporal areas and as posterior if the maximum amplitude of spike–waves was in the posterior temporal, temporo-occipital, or occipital areas on the EEG.ResultsComplete data were available in 16 children. Age at ESES diagnosis ranged from 36 to 84 months. Antiepileptic drugs were used as first treatment for ESES in 16/16 (100%). Electrical status epilepticus in sleep initially resolved in 87%, but 56% had subsequent relapse. At last follow-up, ESES resolved in 56%. And those children was seizures free.ConclusionWe found high failure rate of first line AEDs in preventing ESES, and high relapse rate. There are no standardizations of managment of ESES.We were managed by our experiences, relevant medical records and clinical trials.
Hemimegalencephaly (HME) is rare congenital, hamartomatuous malformation of the brain cortical development characterised by enlargement of all or a part of one cerebral hemisphere. It is estimated ...that prevalence range is from 1 to 3 cases per 1000 children with epilepsy, and 1-14% among children with disturbed cortical development. Ohtahara syndrome is a rare infant epilepsy syndrome, characterised by ‘’burst supression’’ pattern in EEG (high amplitude spikes followed by little brain activity or flattening of the brain waves). It is accompanied by severe neurodevelopemental delay, presumably caused by HME as a structural malformation.We present a case of female premature newborn from bichorionic, biamniotic twin pregnancy, who was delivered vaginally after 35 weeks and 6 days, as the first twin. Apgar scores after 1 and 5 minutes were 10, physical examination was uneventful. The first in vitro fertilization resulted in twin pregnancy of 27-year healthy mother. Apart from oligohydramnios before delivery, pregnancy was uneventful. Family history of both parents was unremarkable. At the age of 24-hours baby girl developed first tonic spasms lasting one minute and spontaneously ceasing, without losing consciousness.She received intravenous Phenobarbital 10 mg/kg followed by 5 mg/kg/day.Initial laboratory findings including lumbal pucture and initial metabolic evaluation were all unremarkable. A tumor or congenital malformation of the left hemisphere of the brain was suspected after the first two dimensional brain ultrasonography. Multi Slice Computed Tomography (MSCT) revealed left HME, confirmed with the magnetic resonance imaging (MRI) together with polymicrogyria of frontal lobe, atypical form of the left Sylvian fissure and the left frontal ventriculomegaly. She developed refractory seizures (tonic; focal with automatisms – squelching, eye blinking; generalised, often waking her up from sleep). EEG showed suppression burst pattern and after extensive diagnostic evaluation the Ohtahara syndrome was diagnosed.Despite several different antiepileptic drugs, and their different combination, frequency and severity of the seizures did not improve and she developed severe developmental delay. At the age of 10 months she underwent functional hemispherotomy, and so far, eight months after the surgery she experienced no seizures together with major improvement in neuromotor development (despite strabismus and right hemiparesis which occurred after surgery). Her twin sister is healthy, normally developing, without seizures. Our findings are in comply with the data from the literature, claiming that after surgery the improvement of the patients is remarkable.
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