65 research outputs found
Acute ataxia in paediatric emergency department ā diagnostic and therapeutic approach
Ataksija je druga po uÄestalosti u kliniÄki i genetski vrlo heterogenoj skupini hiperkinetskih poremeÄaja pokreta. Ataksija je poremeÄaj kontrole koordinacije i nemoguÄnost izvoÄenja voljnih pokreta, Å”to ukljuÄuje nestabilnost glave, trupa (trunkalna ataksija) i udova, hod na Å”iroj osnovi, dismetriju, disdijadohokinezu, nistagmus i disartriju, tetivni refleksi mogu biti oslabljeni ili pojaÄani do pendularnog tipa. U hitnoj ambulanti ataksija se može oÄitovati kao akutna ili kroniÄna ā progresivna i neprogresivna, može biti lokalizirana ili generalizirana, jednostrana
ili obostrana. Jasno se oÄituje tek kada dijete usvoji sposobnost sjedenja, odnosno, kasnije, stajanja i hodanja. Akutna ataksija etioloÅ”ki obuhvaÄa steÄene: infekcijske, postinfekcijske ili imunoloÅ”ki posredovane, intoksikacije, ataksije uzrokovane tumorima mozga, traumom glave/mozga, moždanim udarima, paraneoplastiÄne ili funkcionalne/psihogene ataksije. NajÄeÅ”Äa od steÄenih akutnih ataksija jest akutna post ili parainfekcijska ataksija, zatim slijede ataksije uzrokovane intoksikacijom i ataksije povezane s tumorom mozga. Za dijagnostiÄku obradu ataksija potreban je ponajprije poman neuroloÅ”ki pregled i detaljna anamneza. U dijagnostici akutne ataksije indicirana je hitna slikovna pretraga srediÅ”njega živÄanog sustava (SŽS-a) MR-om (ili CT mozga), glukoza u krvi i toksikoloÅ”ki probir urina. Dijagnostika akutnih ataksija obuhvaÄa dodatno i lumbalnu punkciju, pregled oÄne pozadine, EEG i ORL pregled. Elektromioneurografija je informativna u dijagnostici i steÄenih i genetskih uzroka akutne ataksije, ponajprije motorne i senzorne polineuropatije, radikulopatija i mijelopatija, iako nije hitna pretraga. Vestibularna oÅ”teÄenja, vestibularna i bazilarna migrena, kliniÄki se mogu oÄitovati sekundarno (zbog vrtoglavice) ataksijom cerebelarnog tipa, kao i nekonvulzivni epileptiÄki status uz pseudoataksiju i pseudodemenciju i disfaziju. Neke od genetskih ataksija su ljeÄive i mogu se oÄitovati kao akutne: ataksija uzrokovana nedostatkom vitamina E, nedostatak transportera glukoze GLUT1, nedostatak piruvat dehidrogenaze, mitohondrijske ataksije i dr. Genetske ataksije su cerebelarne i spinocerebelarne, epizodne ili paroksizmalne, progresivne ili neprogresivne. Terapijski pristup ovisi o uzroku, pri Äemu je bitno rano prepoznatii i adekvatno lijeÄiti, ponajprije akutne ataksije povezane s progresivnim ili fulminantnim tijekom, znakovima poviÅ”enog intrakranijalnog tlaka i ostalih hitnih stanja u neurologiji, Å”to omoguÄuje povoljan ishod lijeÄenja.Ataxia is the second most common in the clinically and genetically very heterogeneous group of hyperkinetic movement disorders. Ataxia represents a disorder of coordination, control of and the inability to perform voluntary movements of the head, trunk (truncal ataxia) and limbs, broad base gait, dysmetria, dysdiadochokinesis, nystagmus and dysarthria, tendon reflexes can be decreased or absent, or increased, or of the pendular type. Ataxia In emergency department can be manifested as acute or chronic ā progressive and nonprogressive, it can be localized or generalized, unilateral or bilateral. Ataxia becomes clearly visible and recognizable when the child acquires the ability to sit, or later to stand and walk unassisted. Acute ataxia etiologically includes acquired: infectious, post-infectious or immune-mediated, intoxication, caused by brain tumours, head/ brain trauma, strokes, paraneoplastic or functional/psychogenic ataxias. The most common of acquired acute ataxias is acute, post or para-infectious ataxia, ataxia caused by intoxication or brain tumour. For the appropriate diagnosis and treatment of ataxia, first of all, a thorough clinical and neurological examination and a detailed medical history are required. Brain MR (or brain CT imaging in emergency department) and toxicological screening in urine sample and blood glucose level are mandatory indicated in children with acute ataxia. Diagnostic procedures in acute ataxia includes lumbar puncture and cerebrospinal fluid examination, optic fundi exam, EEG and ENT exam. Electromyoneurography is informative in the diagnosis of both acquired and genetic causes of acute ataxia, primarily of motor and sensory polyneuropathy, radiculopathy and myelopathy, though is not an urgent investigation. Vestibular lesions, vestibular and basilar migraine can be clinically manifested secondary
Management of pediatric status epilepticus ā diagnostic and therapeutic procedures
EpileptiÄki status je najÄeÅ”Äe neuropedijatrijsko hitno stanje u hitnim ambulantama i Äini 1% od svih hitnih stanja. Cilj rada je racionalizacija dijagnostiÄkih preporuka i terapijskih postupaka za epileptiÄki status u pedijatriji prema dobi i okolnostima. MotoriÄki generalizirani epileptiÄki status trajanja duljeg od Äetiri minute potrebno je prekinuti optimalno unutar 5 ā 20 minuta trajanja epileptiÄkog statusa (ES), primarno intravenski (i.v.) primjenom diazepama (0,2 mg/kg), a u novoroÄenÄeta fenobarbitona i.v. 20 mg/kg u bolniÄkim uvjetima. U izvanbolniÄkim 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 moguÄnosti brze pripreme ili fenobarbiton, uz B6 100 mg i.v. u novoroÄenÄeta. U superrefrakternom statusu primjenjuju se anestetici: midazolam u infuziji ili ketamin i.v. u infuziji. EpileptiÄki status do najdulje 10 minuta od poÄetka trajanja zbrinjava se na mjestu dogaÄaja ili u I. razini, nakon kliniÄkog
pregleda i anamneze, prekidanjem napadaja. Potom se dijete transportira u II., a novoroÄenÄe i dojenÄe optimalno u III. razinu zbrinjavanja. Benzodiazepini su efikasni u zaustavljanju 80 ā 90% epileptiÄkih napada u fazi prijeteÄeg prije razvoja ustanovljenog ES-a (5 ā 10 min). Nema statistiÄki znaÄajne razlike u uÄinkovitosti izmeÄu antiepileptiÄkih lijekova druge linije. Nema dovoljno dokaza za preporuku anestetika iz 3. linije lijeÄenja ES-a. U novoroÄenÄadi, dojenÄadi i djece s ES-om potrebno je iskljuÄiti infekciju srediÅ”njega živÄanog sustava (SŽS), ishemiju, intrakranijalne hemoragije, intoksikacije, strukturne abnormalnosti i provesti metaboliÄku i genetsku obradu. Neuroslikovni prikaz MR-a mozga indiciran je u svakog bolesnika s epileptiÄkim statusom. Video EEG monitoring
neophodan je u dijagnostici ES-a, ponajprije nekonvulzivnog, koji je Äesti nastavak konvulzivnog ES-a, i bezuvjetan u praÄenju uÄinkovitosti terapije ES-a antiepileptiÄkim lijekovima i anesteticima.Status epilepticus is the most common neuropediatric emergency in emergency departments, accounting for 1% of all emergencies. The aim of the manuscript is the rationalization of diagnostic recommendations and therapeutic procedures for status epilepticus in pediatrics according to age and circumstances. Motor generalized epileptic status lasting longer than 4 minutes should be terminated optimally within 5ā20 minutes of (epileptic status) ES duration, primarily i.v. using diazepam (0.2 mg/kg), and in the newborn, phenobarbitone
intravenous (i.v.) 20 mg/kg in hospital conditions. In outpatient settings, benzodiazepines are used, buccal midazolam, (for infants older than 3 months), or midazolam intramuscular (i.m.) or diazepam rectal tube for children >12 months, maximum 2 doses with an interval of 5 minutes if ES does not stop. If ES is refractory, 20 minutes after onset levetiracetam 40mg/kg i.v. is used or phenobarbitone, with B6 100 mg i.v in the newborn. In super-refractory status, anesthetics are used: midazolam in infusion ā or ketamine i.v. in infusion. Status epilepticus for a maximum of 10 minutes from the beginning of the duration, is treated out of hospital in Level I, after a clinical exam and history, by stopping the seizure. Child is transported afterward to 2nd, and the newborn and infant optimally to 3rd level of care if feasible. Benzodiazepines are effective in stopping 80ā90% of epileptic seizures in the impending phase before the development of established status SE. There is no statistically significant difference in efficacy between second-line antiepileptic drugs. Levetiracetam i.v. is the drug of the first choice from the second line due to the possibility of quick preparation. There is not enough evidence to recommend
anesthetics from the 3rd line of treatment for SE. In newborns, infants and children with ES, is necessary to rule out infection of the central nervous system (CNS), ischemia, intracranial hemorrhages, structural abnormalities and to carry out metabolic and genetic investigations. Brain MR imaging is indicated in each patient with status epilepticus. Video EEG monitoring is necessary in the diagnosis of primarily nonconvulsive ES, which is a frequent continuum of convulsive ES, and mandatory in monitoring the effectiveness of ES therapy with antiepileptic drugs and anesthetics
HEREDITARY POLYNEUROPATHIES: MOLECULAR GENETICS AND VARIABILITY OF CLINICAL FEATURES
Nasljedne periferne neuropatije kliniÄki i genetiÄki su vrlo raznolika skupina bolesti perifernih živaca. Ovisno o zahvaÄanju vlakana perifernih živaca, neuropatije se klasificiraju u motorne, senzorne i autonomne, odnosno mijeÅ”ane motorne, senzorne i autonomne. Temeljem patohistoloÅ”kih i neurofizioloÅ”kih karakteristika nasljedne bolesti perifernih živaca se mogu podijeliti u demijelinizirajuÄe i aksonalne neuropatije. Charcot-Marie-Toothova bolest (CMT) jedna je od najÄeÅ”Äih nasljedih neuroloÅ”kih bolesti i obuhvaÄa kliniÄki i genetski vrlo heterogenu skupinu nasljednih neuropatija. KliniÄka slika oÄituje se zahvaÄanjem distalne muskulature uz progresivni razvoj hipotrofije, arefleksije te deformacije stopala i razvojem skolioze te kasnije motoriÄkim hendikepom, odnosno nepokretnoÅ”Äu. CMT 1 ili hereditarne senzorne i motorne neuropatije (HSMN 1) su primarno demijelinizirajuÄe neuropatije, a CMT 2 ili HSMN 2 su primarno aksonske neuropatije. Rezultati molekularno genetiÄke analize su od izuzetne važnosti za postavljanje ispravne dijagnoze i genetskog savjetovanja te potom i u perspektivi za razvoj etioloÅ”ke terapije.Hereditary peripheral neuropathies present a very heterogeneous group of peripheral nerves disorders both clinically and genetically. Neuropathies are classified according to the large peripheral nerves fiber affection in pure motor, sensory and autonomic or mixed motor, sensory and autonomic neuropathies. On the basis of their pathohistological and neurophysiological characteristics, inherited neuropathies are divided into demyelinating and axonal types. Charcot-Marie-Tooth\u27s disease (CMT) is one of the most common inherited neurological disorders which includes a very heterogeneous group of inherited neuropathies both clinically and genetically. Clinical features include foot deformities, development of scoliosis, and later motor handicaps or severe motor disability. CMT 1 or hereditary motor and sensory neuropathies (HSMN1) are primarily demyelinating neuropathies. CMT2 or hereditary motor and sensory neuropathies (HSMN2) are primarily axonal neuropathies. The results of molecular genetic analyses are very important for appropriate diagnosis and genetic counseling and for development of etiological therapy in the future
GUILLAIN-BARRĆOV SINDROM I ATIPIÄNE VARIJANTE U DJECE: ISKUSTVO TERCIJARNOG CENTRA U REPUBLICI HRVATSKOJ
Aim: To depict heterogeneous clinical features of atypical Guillain-BarrĆ© syndrome (GBS) variants overlapping between different GBS types and subtypes. Methods: Retrospective analysis of data comprising neurological features, cerebrospinal fl uid (CSF) analysis, ganglioside antibody testing results, electromyography (EMG) fi ndings, brain and spinal magnetic resonance imaging (MRI) in all pediatric patients with GBS treated during a 10-year period at a tertiary center. Results: Twenty-three children were treated for GBS during the study period. Atypical variants were found in fi ve patients and included bifacial and severe pharyngocervicobrachial weakness of descending type, sixth nerve lesion accompanied with lower extremity paresthesias, sensory atactic neuropathy and facial nerve lesion, acute ptosis with mydriasis and incomplete Miller Fisher syndrome, and bilateral facial nerve paresis (one case each). Initial CSF analysis revealed mostly normal proteinlevel in atypical variants. MRI evaluation was normal in all atypical variants except for enhancement of the cervical nerve roots in a patient with pharyngocervicobrachial subtype. EMG performed in the fi rst two weeks showed prolonged distal latency and proximal conduction block in 3/5 patients, in elicitable nerves and axonal loss on upper extremities in a patient with pharyngocervicobrachial subtype, and absent F-waves and neural potentials in 3/5 patients. Slight decrease of motor conduction velocity was present in 2/5 patients in distal nerve segments. Antiganglioside antibodies were positive in 4/5 patients. Conclusion: Clinical manifestations of GBS are very variable, whereas atypical variants/overlaps are not so uncommon. This study supports the proposed hypothesis of continuous spectrum of GBS requiring reconsideration of the existing diagnostic criteria for classic GBS in pediatric population supported by recently proposed (published) diagnostic guidelines.Cilj: Prikazati heterogene kliniÄke znaÄajke inaÄica atipiÄnog Guillain-BarrĆ©ova sindroma (GBS) te preklapanje izmeÄu razliÄitih GBS tipova i podtipova. Metode: Retrospektivna analiza podataka koji ukljuÄuju neuroloÅ”ke znaÄajke, analizu cerebrospinalne tekuÄine, rezultate ispitivanja antigangliozidnih protutijela, nalaze elektromiografi je (EMG), magnetsku rezonanciju mozga i kralježnice (MRI), svih pedijatrijskih bolesnika lijeÄenih zbog GBS-a u tercijarnom centru u 10-godiÅ”njem razdoblju. Rezultati: LijeÄeno je ukupno 23 djece zbog GBS-a. AtipiÄne varijante pronaÄene su u pet bolesnika i ukljuÄivale su bifacijalnu i teÅ”ku faringo-cerviko-brahijalnu silaznu slabost, leziju Å”estog živca popraÄenu parestezijama donjih ekstremiteta, senzoriÄku ataktiÄnu neuropatiju i leziju facijalnog živca, akutnu ptozu s midrijazom i nepotpunim Miller Fisherovim sindromom te bilateralnu parezu facijalnog živca (sve po jedan sluÄaj). Inicijalna analiza cerebrospinalne tekuÄine pokazala je veÄinom normalnu razinu proteina. RadioloÅ”ka obrada je bila uredna u svim atipiÄnim varijantama osim u bolesnika s faringo-cerviko-brahijalnom varijantom gdje je naÄen pojaÄan signal u korijenu živaca cervikalne kralježnice. EMG je prva dva tjedna bolesti pokazao produljenu distalnu latenciju i proksimalni blok u 3/5 bolesnika, gubitak aksona na gornjim ekstremitetima u bolesnika s faringo-cerviko-brahijalnim podtipom te odsutne F-valove i neuronske potencijale u 3/5 bolesnika. Blago smanjenje brzine provoÄenja u distalnim segmentima živaca bilo je prisutno u 2/5 bolesnika. Antigangliozidna
protutijela bila su pozitivna u 4/5 bolesnika. ZakljuÄak: KliniÄke manifestacije GBS-a vrlo su varijabilne, a atipiÄne varijante/preklapanja nisu rijetke. Ovo istraživanje podupire predloženu hipotezu o kontinuiranom spektru GBS-a koja zahtijeva preispitivanje postojeÄih dijagnostiÄkih kriterija za klasiÄni GBS u djeÄjoj populaciji te ukljuÄenje kriterija za varijante GBS-a koji su nedavno predloženi i objavljeni
GUILLAIN-BARRĆOV SINDROM I ATIPIÄNE VARIJANTE U DJECE: ISKUSTVO TERCIJARNOG CENTRA U REPUBLICI HRVATSKOJ
Aim: To depict heterogeneous clinical features of atypical Guillain-BarrĆ© syndrome (GBS) variants overlapping between different GBS types and subtypes. Methods: Retrospective analysis of data comprising neurological features, cerebrospinal fl uid (CSF) analysis, ganglioside antibody testing results, electromyography (EMG) fi ndings, brain and spinal magnetic resonance imaging (MRI) in all pediatric patients with GBS treated during a 10-year period at a tertiary center. Results: Twenty-three children were treated for GBS during the study period. Atypical variants were found in fi ve patients and included bifacial and severe pharyngocervicobrachial weakness of descending type, sixth nerve lesion accompanied with lower extremity paresthesias, sensory atactic neuropathy and facial nerve lesion, acute ptosis with mydriasis and incomplete Miller Fisher syndrome, and bilateral facial nerve paresis (one case each). Initial CSF analysis revealed mostly normal proteinlevel in atypical variants. MRI evaluation was normal in all atypical variants except for enhancement of the cervical nerve roots in a patient with pharyngocervicobrachial subtype. EMG performed in the fi rst two weeks showed prolonged distal latency and proximal conduction block in 3/5 patients, in elicitable nerves and axonal loss on upper extremities in a patient with pharyngocervicobrachial subtype, and absent F-waves and neural potentials in 3/5 patients. Slight decrease of motor conduction velocity was present in 2/5 patients in distal nerve segments. Antiganglioside antibodies were positive in 4/5 patients. Conclusion: Clinical manifestations of GBS are very variable, whereas atypical variants/overlaps are not so uncommon. This study supports the proposed hypothesis of continuous spectrum of GBS requiring reconsideration of the existing diagnostic criteria for classic GBS in pediatric population supported by recently proposed (published) diagnostic guidelines.Cilj: Prikazati heterogene kliniÄke znaÄajke inaÄica atipiÄnog Guillain-BarrĆ©ova sindroma (GBS) te preklapanje izmeÄu razliÄitih GBS tipova i podtipova. Metode: Retrospektivna analiza podataka koji ukljuÄuju neuroloÅ”ke znaÄajke, analizu cerebrospinalne tekuÄine, rezultate ispitivanja antigangliozidnih protutijela, nalaze elektromiografi je (EMG), magnetsku rezonanciju mozga i kralježnice (MRI), svih pedijatrijskih bolesnika lijeÄenih zbog GBS-a u tercijarnom centru u 10-godiÅ”njem razdoblju. Rezultati: LijeÄeno je ukupno 23 djece zbog GBS-a. AtipiÄne varijante pronaÄene su u pet bolesnika i ukljuÄivale su bifacijalnu i teÅ”ku faringo-cerviko-brahijalnu silaznu slabost, leziju Å”estog živca popraÄenu parestezijama donjih ekstremiteta, senzoriÄku ataktiÄnu neuropatiju i leziju facijalnog živca, akutnu ptozu s midrijazom i nepotpunim Miller Fisherovim sindromom te bilateralnu parezu facijalnog živca (sve po jedan sluÄaj). Inicijalna analiza cerebrospinalne tekuÄine pokazala je veÄinom normalnu razinu proteina. RadioloÅ”ka obrada je bila uredna u svim atipiÄnim varijantama osim u bolesnika s faringo-cerviko-brahijalnom varijantom gdje je naÄen pojaÄan signal u korijenu živaca cervikalne kralježnice. EMG je prva dva tjedna bolesti pokazao produljenu distalnu latenciju i proksimalni blok u 3/5 bolesnika, gubitak aksona na gornjim ekstremitetima u bolesnika s faringo-cerviko-brahijalnim podtipom te odsutne F-valove i neuronske potencijale u 3/5 bolesnika. Blago smanjenje brzine provoÄenja u distalnim segmentima živaca bilo je prisutno u 2/5 bolesnika. Antigangliozidna
protutijela bila su pozitivna u 4/5 bolesnika. ZakljuÄak: KliniÄke manifestacije GBS-a vrlo su varijabilne, a atipiÄne varijante/preklapanja nisu rijetke. Ovo istraživanje podupire predloženu hipotezu o kontinuiranom spektru GBS-a koja zahtijeva preispitivanje postojeÄih dijagnostiÄkih kriterija za klasiÄni GBS u djeÄjoj populaciji te ukljuÄenje kriterija za varijante GBS-a koji su nedavno predloženi i objavljeni
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
Bilateral Amaurosis Caused by Salmonella enteritidis Infection
The aim of this paper was to show the potential of Salmonella enteritidis infection to eventually result in visual impairment. A case of salmonellosis in a 6-year-old boy, caused by intake of a cake made from eggs infected with Salmonella enteritidis, is presented. Prolonged duration of the disease was followed by complete remission of neurologic complications and persistent amaurosis with bilateral optic nerve atrophy. A severe form of Salmonella enterocolitis with neurologic involvement can lead to optic nerve lesion with consequential loss of vision
Progressive Chronic Inflammatory Demyelinating Polyneuropathy in a Child with Central Nervous System Involvement and Myopathy
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic disorder, manifesting with monophasic or
relapsing course. Progressive course is rare in children. The article presents a boy with progressive generalized muscle
weakness and areflexia since the age of two, developed after viral infection. Electromyoneurography showed severe neurogenic
lesion, with myopathic pattern in proximal muscles. Increased serum ganglioside antibody titers (anti-GM1
and anti-GD1b) were registered. Sural nerve biopsy revealed demyelination and onion bulbs. Inflammatory perivascular
CD3 positive infiltrates were present in muscle and nerve biopsies. Brain magnetic resonance imaging showed cortical
atrophy, hyperintensities of the white matter and gray matter hypointensities. Improvement occurred on intravenous immune
globulins and methylprednisolone treatment. Demyelination might develop in central and peripheral nervous system
associated with inflammatory myopathy in patients with progressive course of CIDP
Autoimmune encephalopathies in children: clasifi cation, diagnosis and treatment
Autoimune encefalopatije (AE) kliniÄki se manifestiraju znakovima limbiÄkog ili difuznog encefalitisa, a prema etiologiji se mogu
podijeliti u paraneoplastiÄne i neparaneoplastiÄne. Simptomi i znakovi autoimunog encefalitisa su vrlo varijabilni i najÄeÅ”Äe uklju-
Äuju glavobolju, epileptiÄke napadaje i nerijetko epileptiÄki status, poremeÄaje kretanja (ataksiju, diskinezije, koreju, distoniju i tremor),
poremeÄaje pamÄenja, ponaÅ”anja, psihoze te razliÄite stupnjeve poremeÄaja svijesti. Autonomna disfunkcija, poremeÄaji
spavanja i hipoventilacija Äesto su dio kliniÄke slike. Razvoj autoimunih encefalopatija mogu osim tumorskih potaknuti i virusni
antigeni, no najÄeÅ”Äe okidaÄi ostaju neidentifi cirani. Prema lokalizaciji antigena na koje je autoimunosni proces usmjeren, autoimune
se encefalopatije dijele u one uzrokovane protutijelima na intracelularne antigene (Ma2, Hu), a koje su ÄeÅ”Äe u odraslih,
paraneoplastiÄke su etiologije i slabo reagiraju na imunoterapiju te na one uzrokovane protutijelima na povrÅ”inske, odnosno
sinaptiÄke antigene (N-metil-diaspartatni receptor (NMDAR), kompleks naponom reguliranih kalijevih kanala VGKC /LGI1) koje
dobro reagiraju na imunoterapiju. Protutijela u autoimunim encefalopatijama dokazuju se u serumu i cerebrospinalnom likvoru. U
cerebrospinalnom se likvoru nalazi blaga pleocitoza i/ili oligoklonske vrpce, a nerijetko je nalaz u likvoru normalan. EEG pokazuje
difuzne encefalopatske spore disritmiÄke promjene ili tzv. āekstremne delta Äetkeā te žariÅ”ne epileptogene promjene, odnosno
paroksizmalna izbijanja u limbiÄkom encefalitisu. MR mozga u bolesnika s NMDAR protutijelima u pravilu je normalan ili pokazuje
prolazne subkortikalne T2 hiperintenzitete, no posebno je znaÄajan za dijagnozu limbiÄkog encefalitisa udruženog s kompleksom
protutijela VGKC/LGI1. Rano prepoznavanje AE-a, kao i poznavanje njegove potencijalne etiologije od izuzetnog je znaÄenja zbog
poduzimanja cjelovitog dijagnostiÄkog postupka i pravodobne primjene odgovarajuÄe terapije.Autoimmune encephalopathies are clinically manifested as limbic or diff use encephalitis. According to the etiology, they are classifi
ed as paraneoplastic and non-paraneoplastic. Signs and symptoms of autoimmune encephalitis are variable. The symptomatology
commonly includes headache and epileptic attacks often progressing to epileptic status, movement disorders (ataxia, dyskinesias,
chorea, dystonia and tremor), behavior changes, cognitive impairments, psychoses and various degrees of disorders of
consciousness. Faciobrachial dystonic seizures can precede the development of limbic encephalitis. Autonomic dysfunction, sleep
disorders and hypoventilation are often present. The development of autoimmune encephalopathies can be induced by either
tumor or viral antigens. However, in a signifi cant number of cases, disease triggers remain unidentifi ed. According to the localization
of target antigens, autoimmune encephalopathies can be divided into those caused by antibodies against intracellular antigens
(Ma2,Hu) and those caused by antibodies against cell surface antigens, i.e. synaptic antigens (N-methyl-D-aspartate receptor
(NMDAR), voltage-gated potassium channel complex/LGI1). The former are paraneoplastic in origin, more often in adults and
respond poorly to immunotherapy. The latter ones can aff ect children as well, and are usually-responsive to immunotherapy. Antibodies
can be detected in both cerebrospinal fl uid and serum. Mild pleocytosis and/or oligoclonal bands can be found in cerebrospinal
fl uid but in some patients the cerebrospinal examination fi ndings can be completely normal. The electroencephalography fi nding
consists of diff use, slow dysrhythmic encephalopathic changes or so-called extreme delta brushes and focal epileptogenic
changes, i.e. paroxysmal bursts in case of limbic encephalitis. Magnetic resonance image fi nding of the brain is usually normal or
presents transient sub/cortical hyperintensities in T2-weighted images but is signifi cant for the diagnosis of limbic encephalitis.
Early recognition of autoimmune encephalopathy is of utmost importance because of the need of proper diagnostic procedure and
timely introduction of appropriate therapy
Cerebral sinovenous thrombosis in children
Cerebral sinovenous thrombosis (CSVT) is an uncommon, but extremely dangerous condition which may have lethal consequences if not recognized on time. The incidence is estimated at 0,6/100 000/year. Clinical presentation is often nonspecific and age-related, including depressed mental status, headache, vomiting, cranial nerve palsy and neonatal seizures. Diagnosis is primarily radiologic with MRV being the gold standard. Most common specific treatment is systematic anticoagulation. A 13-year-old boy presented with diplopia, bilateral 6th cranial nerve palsy and neck pain. He had an episode of acute gastroenteritis recently. Contrast-enhanced MRV revealed an intraluminal filling defects of sagittal, transversal and sigmoid sinus with partial interruption of flow, which was deemed to be an extensive thrombosis. Right mastoid showed inflammatory content, suggesting the potential etiology of the thrombosis. Ophthalmologic assessment documented papilledema. Enoxaparine was initiated and titrated to a therapeutic range. Due to inflammatory finding of the right mastoid, he was given ceftriaxone IV. Control MRV revealed partial recanalization of the sinuses after 28 days of hospitalization. After discharge, he will continue with oral anticoagulant therapy with minimum of 6 months. Mastoiditis is common cause of CSVT in pediatric population. Clinician should keep that in mind when thinking about differential diagnosis for child with sudden neurological deficit and history of acute otitis. Role of thrombolytic therapy is yet to be established. Around 90% of children with well-timed therapy have complete or partial recanalization. There is no clear correlation between recanalization and long-term prognosis
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