Neurološki simptomi kao prvi znaci tumora mozga u djece

During a 15-year period (1985-1999), 181 children were hospitalized at the Oncological Ward of the Department for Pediatrics, for primary brain tumor. Medical records were reviewed to assess the duration and prevalence of symptoms prior to diagnosis. Headache was the leading symptom found in 47% of children, followed by vomiting in 31%, ataxia in 27%, and ocular symptoms in 23% of children with brain tumor. Neurologic problems as the only symptom of brain tumor may mislead pediatricians and neuropediatricians, so that a low index of suspicion may delay the diagnosis. The aim of this 15-year casuistic analysis was to help improve the diagnostic procedure and reduce the delay in reaching the diagnosis.Za vrijeme petnaestogodišnjeg razdoblja (1985.-1999.) na Onkološkom odsjeku Klinike za pedijatriju bilo je hospitalizirano 181 dijete zbog primarnog tumora mozga. Analizirali smo njihove povijesti bolesti kako bismo ustanovili zbog kojih su simptoma bili primljeni i kako dugo su simptomi trajali prije postavljanja dijagnoze. Glavobolja je bila vodeći simptom u 47% djece, zatim povraćanje u 31%, ataksija u 27% te očni simptomi u 23% djece s tumorom mozga. Neurološki simptomi kao jedini simptomi tumora mozga mogu pedijatru i neuropedijatru biti dijagnostički problem. Zbog toga se može kasniti s postavljanjem točne dijagnoze, što pogoršava prognozu u takvih bolesnika

Increase of Classical Antiepileptic Drug Utilization in Croatia During the Process of Introducing the New Generation of Drugs

During the last decade the process of introducing the new generation of antiepileptic drugs (AEDs) has substantially changed the ways of treating epilepsy. Although a great deal of information about the role of new drugs has been accumulated, much less attention was paid to the impact of the new generation of AEDs on the utilization of classical AEDs. In order to detect the relation between the new and classical AEDs, the data about drug consumption in Croatia in the period 2000–2002 were analyzed. The main results indicated that the growth utilization rate (15%) was more the result of increasing consumption of the classical antiepileptic substances (in almost 2/3). It has been discussed that one of the possible interpretations for this phenomenon could lie in the fact that the continuing process of introducing the new AEDs was accompanied by a great number of educational activities. These activities have led to greater awareness of the facilities in treating epilepsy and consequently to a more active therapeutic approach, which encompassed both generations of drugs, even more the older one

Neurološki simptomi kao prvi znaci tumora mozga u djece

During a 15-year period (1985-1999), 181 children were hospitalized at the Oncological Ward of the Department for Pediatrics, for primary brain tumor. Medical records were reviewed to assess the duration and prevalence of symptoms prior to diagnosis. Headache was the leading symptom found in 47% of children, followed by vomiting in 31%, ataxia in 27%, and ocular symptoms in 23% of children with brain tumor. Neurologic problems as the only symptom of brain tumor may mislead pediatricians and neuropediatricians, so that a low index of suspicion may delay the diagnosis. The aim of this 15-year casuistic analysis was to help improve the diagnostic procedure and reduce the delay in reaching the diagnosis.Za vrijeme petnaestogodišnjeg razdoblja (1985.-1999.) na Onkološkom odsjeku Klinike za pedijatriju bilo je hospitalizirano 181 dijete zbog primarnog tumora mozga. Analizirali smo njihove povijesti bolesti kako bismo ustanovili zbog kojih su simptoma bili primljeni i kako dugo su simptomi trajali prije postavljanja dijagnoze. Glavobolja je bila vodeći simptom u 47% djece, zatim povraćanje u 31%, ataksija u 27% te očni simptomi u 23% djece s tumorom mozga. Neurološki simptomi kao jedini simptomi tumora mozga mogu pedijatru i neuropedijatru biti dijagnostički problem. Zbog toga se može kasniti s postavljanjem točne dijagnoze, što pogoršava prognozu u takvih bolesnika

Karakterističan fenotip u djevojčice s Rettovim sindromom i delecijom 25 bp zbog nove mutacije u 4. eksonu (.881_905del25, nm_004992.3) gena MECP2

Rett syndrome is a pervasive developmental disorder with a variable clinical presentation, which is caused by point mutations or large deletions/duplications in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. The aim is to describe variation in the clinical course related to the mutation identifi ed in exon 4 of the MECP2 gene. Retrospective review of data, electroencephalography and treatment was done in a 19-year-old girl previously diagnosed with a MECP2 gene mutation. Born after an uneventful pregnancy, the female patient’s growth and psychomotor development were normal, except for delayed speech. At the age of 3 years, tonic-clonic seizures started and at the age of 3.5 years autistic behavior was observed, followed by rapid mental deterioration, loss of speech and motor skills, with periods of hyperventilation. At the age of 5 years, she showed occasionally „hand-washing“ movements. Extensive neuro-metabolic investigation was nondiagnostic. Genetic analysis revealed a novel 25 bp deletion mutation in exon 4 (c.881_905del25) of the MECP2 gene. Until now, multiple epileptic seizure types, refractory to all antiepileptic polytherapy and with normal video EEG background, have occurred daily. She is spastic and ataxic, but still able to walk slowly with a wide based gait. In this female patient, the onset of symptoms manifested much later than encountered in typical cases of Rett syndrome. Epilepsy with daily frequency is however drug resistant. Unexpectedly, she is still able to walk at the age of 19 years. A genotype-phenotype correlation is suspected.Rettov sindrom (RTT) pervazivni je razvojni poremećaj s različitim kliničkim slikama, a uzrokovan najčešće točkastim mutacijama ili delecijom/duplikacijom metil-CpG-vezanog proteina 2 (MECP2) na genu X. Cilj je opisati različitosti kliničkog tijeka bolesti koje su vezane za nađenu mutaciju na 4. eksonu gena MECP2. Retrospektivna analiza anamnestičkih podataka, electroencefalograma i liječenja kod 19-godišnje djevojke s nalazom mutacije na genu MECP2. Djevojčica je rođena nakon uredne trudnoće kao 4. dijete u obitelji, rast i psihomotorni razvoj su bili uredni, osim zaostatka u razvoju govora. Sa 3 godine započeli su toničko-klonički grčevi, a sa 3,5 godine uočava se autistično ponašanje, nakon čega je uslijedila mentalna deterioracija s prestankon govora, smetnjama motorike i povremenim kratkotrajnim javljanjima hiperventilacije. Sa 5 godina povremeno su se uočavali pokreti „pranja ruku“. Velikim opsegom neurometaboličkih pretraga nije se našao uzrok smetnjama. Genetičkom analizom nađena je delecija 25 bp kao jedna od novih mutacija u 4. eksonu (c.881_905del25) gena MECP2. Uslijedili su razni oblici epileptičkih napadaja koji su bili tvrdokorni na antiepileptičku terapiju, uz urednu osnovnu aktivnost na video-elektroencefalogramu. Djevojka ima povišen mišićni tonus, ataktičan hod i može samostalno hodati na širokoj osnovi. U ove djevojke simptomi su počeli kasnije nego u tipičnim slučajevima Rettovog sindroma. Epileptički napadaji su svakodnevni i tvrdokorni na terapiju, a 19-godišnja djevojka još hoda, a najvjerojatniji razlog je međusobna povezanost genotipa i fenotipa

Increase of Classical Antiepileptic Drug Utilization in Croatia During the Process of Introducing the New Generation of Drugs

During the last decade the process of introducing the new generation of antiepileptic drugs (AEDs) has substantially changed the ways of treating epilepsy. Although a great deal of information about the role of new drugs has been accumulated, much less attention was paid to the impact of the new generation of AEDs on the utilization of classical AEDs. In order to detect the relation between the new and classical AEDs, the data about drug consumption in Croatia in the period 2000–2002 were analyzed. The main results indicated that the growth utilization rate (15%) was more the result of increasing consumption of the classical antiepileptic substances (in almost 2/3). It has been discussed that one of the possible interpretations for this phenomenon could lie in the fact that the continuing process of introducing the new AEDs was accompanied by a great number of educational activities. These activities have led to greater awareness of the facilities in treating epilepsy and consequently to a more active therapeutic approach, which encompassed both generations of drugs, even more the older one

HEADACHES IN CHILDREN

Uvod: Glavobolja je vrlo čest simptom u djece i adolescenata, a uzroci su raznoliki. Cilj: Raščlaniti i povezati anamnestičke podatke i nalaze djece hospitalizirane na Neuropedijatrijskom odjelu s dijagnozom glavobolje pri prijmu - povezati trajanje, kliničku sliku i uzroke glavobolja; oblik glavobolje klasificirati prema kriterijima The International Classification of Headache Disordersa, 2nd Edition. Metode: Retrospektivna analiza kliničkih značajki glavobolja u 377-ero djece praćene u razdoblju od 1. 1. 2003. Do 31. 12. 2007. Rezultati: Analiza obuhvaća podatke 221 (58.6%) djevojčice i 156 (41.4%) dječaka. Srednja dob ispitanika bila je 11godina i 8 mjeseci (raspon 2 godine i 8 mjeseci – 22 g.). Trajanje glavobolje ≤3 mj. Bilo je prisutno u 137-ero (36.3%) djece, u njih 220-ero (58.4%) >3mj, a u 20-ero (5.3%) djece podatci su bili nepoznati. Akutna glavobolja bila je prisutna u 144-ero (38.2%) djece, a recidivirajuća u njih 215-ero (57.0%). U sve djece učinjena je hematološko-biokemijsko-mikrobiološka, neurološka, okulistička i ORL obrada. Na temelju anamneze i ostalih nalaza glavobolje smo klasificirali kao: tenzijske (36.1%), moguće tenzijske (5.6%), povezane sa strukturnim promjenama organa glave (20.7%), migrena (16.7%), posttraumatske(3.2%), intrakranijske nevaskularne (neoplazme, disfunkcija drenažnog sustava prema Pudenzu) (1.8%) i vaskularne (CVI ) (0,3%). Učestalost glavobolja povezanih s infekcijom (sistemske infekcije, nakon preboljelog meningitisa) nađena je u 0.8% , zbog hipertenzije 0.5% slučajeva, dok su ostali uzroci (neklasificirane, sideropenična anemija, multipla skleroza, epilepsija, menstruacija) bili prisutni u 14.3% djece. Zaključak: Najčešći tip glavobolje bile su psihogene – tenzijske glavobolje.Radi utvrđivanja etiološke dijagnoze glavobolja koje zahtijevaju specifičnu terapiju, preporučujemo detaljnu kliničku obradu djece kojoj glavobolja traje dulje od tri mjeseca.Introduction: Headache is a common symptom in children and adolescents, with various causes. AIM: To divide and put together the anamnestic data and findings of children hospitalized at the Neuropaediatric Unit with headache as the primary diagnosis – to associate the duration, clinical features and causes of headaches and classify them according to the criteria of The International Classification of Headache Disorders Second Edition. Methods: The retrospective analysis of clinical data in 377 children followed up from January 1st 2003 until December 31st 2007. Results: The analysis includes data from 221(58.6%) girls and 156 (41.4%) boys. Mean age was 11 years (y) and 8 months (m) (2y8m – 22y). Headache with duration ≤3m was found in 137 (36.3%), >3m in 220 (58.4%) children. In 20 (5.3%) children the data was unknown. Acute headache was present in 144 (38.2%), recurrent headache in 215 (57.0%) children. In all children the haematological-biochemical-microbiological findings were made, together with neurological, ophthalmologic and ORL evaluation. Based on anamnestic data and findings we classified headaches as follows: tension-type (36.1%), possible tension-type (5.6%), associated with structural changes of the organs in the head (20.7%), migraine (16.7%), post-traumatic (3.2%), intracranial non-vascular (neoplasms, dysfunction of Pudenz drainage system) (1.8%) and vascular (CVI) (0,3%). Frequency of headaches associated with infection (systemic infection, after meningitis) was 0.8%, headache 0.5% was due to hypertension, while other causes were noted in 14.3% (non-classified, sideropenic anaemia, multiple sclerosis, epilepsy, menstruation). Conclusion: The most frequent type of headache was tension-type headache. In order to evaluate the etiological diagnosis of headaches which demand specific therapy, we recommend detailed clinical evaluation in children with duration of headaches of more than 3 months