Acute ataxia in paediatric emergency department – diagnostic and therapeutic approach

Ataksija je druga po učestalosti u klinički i genetski vrlo heterogenoj skupini hiperkinetskih poremećaja pokreta. Ataksija je poremećaj kontrole koordinacije i nemogućnost izvođenja voljnih pokreta, što uključuje nestabilnost glave, trupa (trunkalna ataksija) i udova, hod na široj osnovi, dismetriju, disdijadohokinezu, nistagmus i disartriju, tetivni refleksi mogu biti oslabljeni ili pojačani do pendularnog tipa. U hitnoj ambulanti ataksija se može očitovati kao akutna ili kronična – progresivna i neprogresivna, može biti lokalizirana ili generalizirana, jednostrana ili obostrana. Jasno se očituje tek kada dijete usvoji sposobnost sjedenja, odnosno, kasnije, stajanja i hodanja. Akutna ataksija etiološki obuhvaća stečene: infekcijske, postinfekcijske ili imunološki posredovane, intoksikacije, ataksije uzrokovane tumorima mozga, traumom glave/mozga, moždanim udarima, paraneoplastične ili funkcionalne/psihogene ataksije. Najčešća od stečenih akutnih ataksija jest akutna post ili parainfekcijska ataksija, zatim slijede ataksije uzrokovane intoksikacijom i ataksije povezane s tumorom mozga. Za dijagnostičku obradu ataksija potreban je ponajprije poman neurološki pregled i detaljna anamneza. U dijagnostici akutne ataksije indicirana je hitna slikovna pretraga središnjega živčanog sustava (SŽS-a) MR-om (ili CT mozga), glukoza u krvi i toksikološki probir urina. Dijagnostika akutnih ataksija obuhvaća dodatno i lumbalnu punkciju, pregled očne pozadine, EEG i ORL pregled. Elektromioneurografija je informativna u dijagnostici i stečenih i genetskih uzroka akutne ataksije, ponajprije motorne i senzorne polineuropatije, radikulopatija i mijelopatija, iako nije hitna pretraga. Vestibularna oštećenja, vestibularna i bazilarna migrena, klinički se mogu očitovati sekundarno (zbog vrtoglavice) ataksijom cerebelarnog tipa, kao i nekonvulzivni epileptički status uz pseudoataksiju i pseudodemenciju i disfaziju. Neke od genetskih ataksija su lječive i mogu se očitovati 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 čemu je bitno rano prepoznatii i adekvatno liječiti, ponajprije akutne ataksije povezane s progresivnim ili fulminantnim tijekom, znakovima povišenog intrakranijalnog tlaka i ostalih hitnih stanja u neurologiji, što omogućuje povoljan ishod liječenja.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 – 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 – diagnostic and therapeutic procedures

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.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 5–20 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 – 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 80–90% 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 klinički i genetički su vrlo raznolika skupina bolesti perifernih živaca. Ovisno o zahvaćanju vlakana perifernih živaca, neuropatije se klasificiraju u motorne, senzorne i autonomne, odnosno miješane motorne, senzorne i autonomne. Temeljem patohistoloških i neurofizioloških karakteristika nasljedne bolesti perifernih živaca se mogu podijeliti u demijelinizirajuće i aksonalne neuropatije. Charcot-Marie-Toothova bolest (CMT) jedna je od najčešćih nasljedih neuroloških bolesti i obuhvaća klinički i genetski vrlo heterogenu skupinu nasljednih neuropatija. Klinička slika očituje se zahvaćanjem distalne muskulature uz progresivni razvoj hipotrofije, arefleksije te deformacije stopala i razvojem skolioze te kasnije motoričkim hendikepom, odnosno nepokretnošću. CMT 1 ili hereditarne senzorne i motorne neuropatije (HSMN 1) su primarno demijelinizirajuće neuropatije, a CMT 2 ili HSMN 2 su primarno aksonske neuropatije. Rezultati molekularno genetičke analize su od izuzetne važnosti za postavljanje ispravne dijagnoze i genetskog savjetovanja te potom i u perspektivi za razvoj etiološke 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-BARRÉOV SINDROM I ATIPIČNE VARIJANTE U DJECE: ISKUSTVO TERCIJARNOG CENTRA U REPUBLICI HRVATSKOJ

Aim: To depict heterogeneous clinical features of atypical Guillain-Barré 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 kliničke značajke inačica atipičnog Guillain-Barréova sindroma (GBS) te preklapanje između različitih GBS tipova i podtipova. Metode: Retrospektivna analiza podataka koji uključuju neurološke značajke, analizu cerebrospinalne tekućine, rezultate ispitivanja antigangliozidnih protutijela, nalaze elektromiografi je (EMG), magnetsku rezonanciju mozga i kralježnice (MRI), svih pedijatrijskih bolesnika liječenih zbog GBS-a u tercijarnom centru u 10-godišnjem razdoblju. Rezultati: Liječeno je ukupno 23 djece zbog GBS-a. Atipične varijante pronađene su u pet bolesnika i uključivale su bifacijalnu i tešku faringo-cerviko-brahijalnu silaznu slabost, leziju šestog živca popraćenu parestezijama donjih ekstremiteta, senzoričku ataktičnu neuropatiju i leziju facijalnog živca, akutnu ptozu s midrijazom i nepotpunim Miller Fisherovim sindromom te bilateralnu parezu facijalnog živca (sve po jedan slučaj). Inicijalna analiza cerebrospinalne tekućine pokazala je većinom normalnu razinu proteina. Radiološka obrada je bila uredna u svim atipičnim varijantama osim u bolesnika s faringo-cerviko-brahijalnom varijantom gdje je nađen pojačan 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 provođenja u distalnim segmentima živaca bilo je prisutno u 2/5 bolesnika. Antigangliozidna protutijela bila su pozitivna u 4/5 bolesnika. Zaključak: Kliničke manifestacije GBS-a vrlo su varijabilne, a atipične varijante/preklapanja nisu rijetke. Ovo istraživanje podupire predloženu hipotezu o kontinuiranom spektru GBS-a koja zahtijeva preispitivanje postojećih dijagnostičkih kriterija za klasični GBS u dječjoj populaciji te uključenje kriterija za varijante GBS-a koji su nedavno predloženi i objavljeni

GUILLAIN-BARRÉOV SINDROM I ATIPIČNE VARIJANTE U DJECE: ISKUSTVO TERCIJARNOG CENTRA U REPUBLICI HRVATSKOJ

Aim: To depict heterogeneous clinical features of atypical Guillain-Barré 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 kliničke značajke inačica atipičnog Guillain-Barréova sindroma (GBS) te preklapanje između različitih GBS tipova i podtipova. Metode: Retrospektivna analiza podataka koji uključuju neurološke značajke, analizu cerebrospinalne tekućine, rezultate ispitivanja antigangliozidnih protutijela, nalaze elektromiografi je (EMG), magnetsku rezonanciju mozga i kralježnice (MRI), svih pedijatrijskih bolesnika liječenih zbog GBS-a u tercijarnom centru u 10-godišnjem razdoblju. Rezultati: Liječeno je ukupno 23 djece zbog GBS-a. Atipične varijante pronađene su u pet bolesnika i uključivale su bifacijalnu i tešku faringo-cerviko-brahijalnu silaznu slabost, leziju šestog živca popraćenu parestezijama donjih ekstremiteta, senzoričku ataktičnu neuropatiju i leziju facijalnog živca, akutnu ptozu s midrijazom i nepotpunim Miller Fisherovim sindromom te bilateralnu parezu facijalnog živca (sve po jedan slučaj). Inicijalna analiza cerebrospinalne tekućine pokazala je većinom normalnu razinu proteina. Radiološka obrada je bila uredna u svim atipičnim varijantama osim u bolesnika s faringo-cerviko-brahijalnom varijantom gdje je nađen pojačan 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 provođenja u distalnim segmentima živaca bilo je prisutno u 2/5 bolesnika. Antigangliozidna protutijela bila su pozitivna u 4/5 bolesnika. Zaključak: Kliničke manifestacije GBS-a vrlo su varijabilne, a atipične varijante/preklapanja nisu rijetke. Ovo istraživanje podupire predloženu hipotezu o kontinuiranom spektru GBS-a koja zahtijeva preispitivanje postojećih dijagnostičkih kriterija za klasični GBS u dječjoj populaciji te uključenje kriterija za varijante GBS-a koji su nedavno predloženi i objavljeni

The Floppy Infant : Evaluation of Hypotonia

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.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) klinički se manifestiraju znakovima limbičkog ili difuznog encefalitisa, a prema etiologiji se mogu podijeliti u paraneoplastične i neparaneoplastične. Simptomi i znakovi autoimunog encefalitisa su vrlo varijabilni i najčešće uklju- čuju glavobolju, epileptičke napadaje i nerijetko epileptički status, poremećaje kretanja (ataksiju, diskinezije, koreju, distoniju i tremor), poremećaje pamćenja, ponašanja, psihoze te različite stupnjeve poremećaja svijesti. Autonomna disfunkcija, poremećaji spavanja i hipoventilacija često su dio kliničke slike. Razvoj autoimunih encefalopatija mogu osim tumorskih potaknuti i virusni antigeni, no najčešće okidači 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 češće u odraslih, paraneoplastičke su etiologije i slabo reagiraju na imunoterapiju te na one uzrokovane protutijelima na površinske, odnosno sinaptičke 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 disritmičke promjene ili tzv. „ekstremne delta četke“ te žarišne epileptogene promjene, odnosno paroksizmalna izbijanja u limbičkom encefalitisu. MR mozga u bolesnika s NMDAR protutijelima u pravilu je normalan ili pokazuje prolazne subkortikalne T2 hiperintenzitete, no posebno je značajan za dijagnozu limbičkog encefalitisa udruženog s kompleksom protutijela VGKC/LGI1. Rano prepoznavanje AE-a, kao i poznavanje njegove potencijalne etiologije od izuzetnog je značenja zbog poduzimanja cjelovitog dijagnostičkog postupka i pravodobne primjene odgovarajuće 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