Epileptički status je najčešće neuropedijatrijsko hitno stanje u hitnim ambulantama i čini 1% od svih hitnih stanja. Cilj rada je racionalizacija dijagnostičkih preporuka i terapijskih postupaka za ...epileptički status u pedijatriji prema dobi i okolnostima. Motorički generalizirani epileptički status trajanja duljeg od četiri minute potrebno je prekinuti optimalno unutar 5 – 20 minuta trajanja epileptičkog statusa (ES), primarno intravenski (i.v.) primjenom diazepama (0,2 mg/kg), a u novorođenčeta fenobarbitona i.v. 20 mg/kg u bolničkim uvjetima. U izvanbolničkim uvjetima primjenjuju se benzodiazepini: midazolam bukalno (za starije od 3 mjeseca) ili midazolam intramuskularno (i.m.) ili klizmu diazepama (rektalno) za djecu >12 mjeseca, maksimalno dvije doze s razmakom od 5 minuta ako ES ne prestaje. Ako je ES refrakteran (RSE) primjenjuje se od 20. minute trajanja levetiracetam 40 mg/kg i.v. zbog mogućnosti brze pripreme ili fenobarbiton, uz B6 100 mg i.v. u novorođenčeta. U superrefrakternom statusu primjenjuju se anestetici: midazolam u infuziji ili ketamin i.v. u infuziji. Epileptički status do najdulje 10 minuta od početka trajanja zbrinjava se na mjestu događaja ili u I. razini, nakon kliničkog
pregleda i anamneze, prekidanjem napadaja. Potom se dijete transportira u II., a novorođenče i dojenče optimalno u III. razinu zbrinjavanja. Benzodiazepini su efikasni u zaustavljanju 80 – 90% epileptičkih napada u fazi prijetećeg prije razvoja ustanovljenog ES-a (5 – 10 min). Nema statistički značajne razlike u učinkovitosti između antiepileptičkih lijekova druge linije. Nema dovoljno dokaza za preporuku anestetika iz 3. linije liječenja ES-a. U novorođenčadi, dojenčadi i djece s ES-om potrebno je isključiti infekciju središnjega živčanog sustava (SŽS), ishemiju, intrakranijalne hemoragije, intoksikacije, strukturne abnormalnosti i provesti metaboličku i genetsku obradu. Neuroslikovni prikaz MR-a mozga indiciran je u svakog bolesnika s epileptičkim statusom. Video EEG monitoring
neophodan je u dijagnostici ES-a, ponajprije nekonvulzivnog, koji je česti nastavak konvulzivnog ES-a, i bezuvjetan u praćenju učinkovitosti terapije ES-a antiepileptičkim lijekovima i anesteticima.
To evaluate the relationship between the neurological outcome, neonatal epileptic seizures, and signal-intensity visibility of the frontal and parietal periventricular crossroads of pathways on brain ...magnetic resonance imaging (MRI) in preterm infants at term-equivalent age.
The study enrolled 48 preterm infants born between 2012 and 2016. The signal-intensity characteristics of the frontal and parietal periventricular crossroads were evaluated and classified into four grades. A non-favorable outcome was defined as a motor and functional disorder with developmental delay and/or cerebral palsy.
Neonatal seizures, epilepsy, pathological EEG and brain ultrasound finding, and brain MRI abnormalities were mostly found in neonates with non-favorable outcomes. Visible frontal and parietal periventricular crossroads were associated with a normal neurologic outcome (P=0.0004; P=0.0009, respectively). Not-visible or slightly visible periventricular crossroads were associated with non-favorable outcomes in the case of frontal crossroads (P=0.036) and not-visible periventricular crossroads in the case of both frontal and parietal crossroads (P=0.001, P=0.015, respectively). The visibility of the frontal and parietal periventricular crossroads was associated with a lack of neonatal epileptic seizures (P=0.03; P=0.02, respectively). The frontal crossroads were more frequently slightly visible, while the parietal periventricular crossroads were more frequently visible.
Poor visibility of the frontal and parietal crossroads of pathways on MRI is associated with neonatal epileptic seizures and poor neurological outcomes in preterm infants at term-equivalent age.
Hipotonija u novorođenčadi i dojenčadi predstavlja dijagnostički izazov za neonatologe i pedijatre, budući da je to klinički simptom koji upućuje na dobroćudna, ali i ozbiljna stanja. Diferencijalna ...dijagnoza neonatalne i dojenačke hipotonije jest opsežna, a metodičan pristup pomaže u lokalizaciji problema na određeni dio živčanog sustava i formuliranju diferencijalne dijagnoze. Postavljanje dijagnoze pomaže u planiranju liječenja i informiranju roditelja o prognozi. Ovaj pregledni članak predstavlja strukturirani pristup koji naglašava početnu
procjenu, pregled i liječenje novorođenčeta i dojenčeta s generaliziranom hipotonijom.
Vrtoglavice u djece Čokolić Petrović, Dunja; Markov-Glavaš, Duška; Barišić, Nina
Liječnički vjesnik,
4/2023, Volume:
145, Issue:
Supp 1
Journal Article
Peer reviewed
Open access
Vrtoglavica je subjektivni osjećaj stanja okretanja ili stanje gubitka ravnoteže u prostoru, često udruženo s mučninom, glavoboljom i povraćanjem, nesigurnošću i zanošenjem u hodu. Vrtoglavica ...ukazuje na oštećenje centralnoga ili perifernoga vestibularnog sustava. Gubitak sluha i tinitus uz vrtoglavicu najčešće ukazuju na periferno oštećenje koje zahvaća unutarnje uho (labirint). Vestibulospinalni sustav omogućuje orijentaciju u prostoru, kontrolu ravnoteže kretanja, stabilizaciju i fiksaciju slike predmeta u očima. Centralno (intrakranijalno) oštećenje vestibularnog sustava povezano je s disartrijom, disfagijom, diplopijama i hemiparezom. Najčešći uzroci
centralnog oštećenja su neurovaskularni, demijelinizirajuće bolesti, ozljede glave te tumori mozga. Najčešći uzrok centralnog vertiga je vestibularna migrena. Vrtoglavica udružena s izraženim autonomnim simptomima poput povraćanja, znojenja, bljedila i mučnine upućuju ponajprije na oštećenje perifernoga vestibularnog sustava. Benigni paroksizmalni vertigo (BPV) i labirintitis najčešći su uzroci periferne vrtoglavice i povezani su s perifernim oštećenjem vestibularnog sustava. Akutna vrtoglavica povezana je s vestibularnim neuritisom, demijelinizirajućom bolesti, moždanim udarom, infekcijom središnjeg živčanog sustava (SŽS) i traumom glave. Subakutni i kronični
vertigo pojavljuju se u ekspanzivnim intrakranijalnim procesima stražnje lubanjske jame te u okviru toksičnog oštećenja vestibularnog sustava. Racionalni dijagnostički pristup djetetu s vrtoglavicom periferne i centralne etiologije temelji se ponajprije na detaljnim anamnestičkim podatcima i detaljnom neurološkom statusu. Predloženi su dijagnostički algoritmi/postupnici (diferencijalno-dijagnostički pristup) koji omogućuju racionalizaciju pretraga u djece s perifernim i centralnim uzrocima vrtoglavice.
Aims
Considering the substantial variability in treatment response across patients with spinal muscular atrophy (SMA), reliable markers for monitoring response to therapy and predicting treatment ...responders need to be identified. The study aimed to determine if measured concentrations of disease biomarkers (total tau protein, neurofilament light chain, and S100B protein) correlate with the duration of nusinersen treatment and with scores obtained using functional scales for the assessment of motor abilities.
Methods
A total of 30 subjects with SMA treated with nusinersen between 2017 and 2021 at the Department of Pediatrics, University Hospital Centre Zagreb, Croatia, were included in this study. Cerebrospinal fluid (CSF) samples were collected by lumbar puncture prior to intrathecal application of nusinersen. Protein concentrations in CSF samples were determined by enzyme‐linked immunosorbent assay in 26 subjects. The motor functions were assessed using functional motor scales.
Results
The main finding was significantly decreased total tau correlating with the number of nusinersen doses and motor improvement in the first 18–24 months of treatment (in all SMA patients and SMA type 1 patients). Neurofilament light chain and S100B were not significantly changed after administration of nusinersen.
Conclusions
The measurement of total tau concentration in CSF is a reliable index for monitoring the biomarker and clinical response to nusinersen therapy in patients with SMA.
In this study, we performed a follow‐up study of 26 spinal muscular atrophy types 1–3 patients treated with nusinersen between 2017 and 2021 to determine if measured concentrations of total tau, neurofilament light chain, and S100B proteins in cerebrospinal fluid correlate with the duration of nusinersen treatment and with scores obtained using functional scales of motor abilities. The main finding was significantly decreased total tau protein correlating with the number of nusinersen doses and motor improvement in the first 18–24 months of treatment. Neurofilament light chain and S100B were not significantly changed after administration of nusinersen.
Dystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been demonstrated as a safe and ...effective treatment for genetic dystonia in adolescents and adults. The results of DBS in children are limited to individual cases or case series, although it has been proven to be an effective procedure in carefully selected pediatric cohorts. The aim of our study was to present the treatment outcome for 7- to 9-year-old pediatric patients with disabling monogenic isolated generalized DYT-
and DYT-
dystonia after bilateral GPi-DBS.
We present three boys aged <10 years; two siblings with disabling generalized DYT-
dystonia and a boy with monogenic-complex DYT-
. Dystonia onset occurred between the ages of 3 and 6. Significantly disabled children were mostly dependent on their parents. Pharmacotherapy was inefficient and patients underwent bilateral GPi-DBS. Clinical signs of dystonia improved significantly in the first month after the implantation and continued to maintain improved motor functions, which were found to have improved further at follow-up. These patients were ambulant without support and included in everyday activities. All patients had significantly lower Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) values, indicating >25% improvement over the first 15 months. However, there was a decline in speech and upper limb function, manifesting with bradylalia, bradykinesia, and dysphonia, which decreased after treatment with trihexyphenidyl.
Although reports of patients with monogenic dystonia, particularly DYT-
, treated with DBS are still scarce, DBS should be considered as an efficient treatment approach in children with pharmacoresistent dystonia, especially with generalized monogenic dystonia and to prevent severe and disabling symptoms that reduce the quality of life, including emotional and social aspects. Patients require an individual approach and parents should be properly informed about expectations and possible outcomes, including relapses and impairments, in addition to DBS responsiveness and related improvements. Furthermore, early genetic diagnosis and the provision of appropriate treatments, including DBS, are mandatory for preventing severe neurologic impairments.
To analyse literature data on vaccine related induction, worsening of the disease and disease reccurrences as well as vaccine safety and efficacy among pediatric patients with acquired inflammatory ...immune-mediated neuromuscular disorders (NMD).
Medline, Pub Med and Scopus database search from 1975 to 2020 focused on pediatric age was conducted including peer reviews, meta analyses and epidemiological studies on vaccination and Guillain-Barré syndrome (GBS), Bell's palsy, optic neuritis (ON), myasthenia gravis (MG), chronic inflammatory demyelinating polyneuropathy (CIDP) and immune-mediated inflammatory myopathy (IM).
s: There are no strong evidence supporting relationship between vaccination with different pediatric vaccines and development of first episodes or reccurrences of GBS, Bell's palsy, optic neuritis (ON), juvenile MG, CIDP, and IM. The vaccination and revaccination with inactivated vaccines is considered safe in children with medical history of GBS, Bell's palsy, ON, MG and IM. Caution when immunization against influenza, quadrivalent conjugated meningococcal vaccine (MCV4) and pneumococcal disease and avoiding tetanus toxoid immunization in CIDP patients is suggested. Patients with immune mediated acquired NMD should be vaccinated with live vaccines before the initiation of immunosupressive treatment. Immunosuppressed patients with low protective antibody titers should be considered for revaccination.
•Vaccination with inactivated vaccines in pediatric patients with GBS, MG, CIDP and IM is considered safe.•Certain safety concerns still remain for tetanus toxoid and pneumoccocal polysaccharide vaccines in patients with CIDP.•Postvaccinal development or relapses of immune inflammatory NMDs are rare in pediatric patients.•Vaccination with live attenuated vaccines should precede immunosupressive treatment.•Vaccination with inactivated vaccines is considered safe in patients with autoimmune NMD on immunosupressive treatment.
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of ...the
gene (survival motor neuron). As a backup, the
gene has the
gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as
pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients' body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers).
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad ...nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
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