The perception of the sister relationship quality among young adolescents

Brat i sestra su uz roditelje najbliži članovi obitelji i bez obzira u kakvom se odnosu nalazili(suparništvo, prijateljstvo) to je jedna od najdubljih emocionalnih veza. Uz izuzetak jednogistraživanja na skupini odraslih, kod nas, koliko je poznato, nije bilo sustavnog istraživanjaovog odnosa u ranijim periodima razvoja. Sukladno tome, cilj provedenog istraživanja bio jeispitati kvalitetu odnosa sa starijom ili mlađom sestrom kod mlađih adolescenata. U istraživanjusu sudjelovali adolescenti (N = 160) i adolescentice (N = 192) u dobi od 13 do 15 godina kojisu imali do 5 godina stariju ili mlađu sestru. Jedna podskupina sudionika procjenjivala je odnossa starijom sestrom (N = 181), a druga s mlađom sestrom (N = 171). Primijenjena je adaptiranaverzija Upitnika o odnosima među braćom i sestrama kojim je obuhvaćeno devet pozitivnih (npr.sličnost, ljubav, prisnost) i šest negativnih aspekata (npr. svađe, natjecanje, antagonizam) odnosakoje dječaci i djevojčice doživljavaju u odnosu sa svojom sestrom. Rezultati analiza rodnihrazlika, između ostalog, ukazuju da u usporedbi s adolescentima, adolescentice percipirajuznačajno više prisnosti ljubavi, suradnje, sličnosti i druženja u odnosu sa sestrom. Nisu utvrđeneznačajne razlike između adolescenata i adolescentica na mjerama negativnih aspekata odnosameđu braćom i sestrama. Nadalje, utvrdile su se razlike u percepciji kvalitete odnosa sa starijomodnosno mlađom sestrom. Faktor dobne razlike pokazao se značajnim na gotovo svim mjeramakvalitete odnosa među braćom i sestrama. U skladu s pretpostavkama, mlađi adolescenti iadolescentice imaju kvalitetniji odnos sa starijom sestrom.Most people grow up in a family with at least one brother or a sister. The relationship betweensiblings can be marked with rivalry and conflict, but it can also be one of the closest and mostintimate relationships that a person has in childhood, adolescence, and adulthood. Unlike parentchildrelationships and children’s peer relationships, there is far less empirical research related tothe study of sibling relationships which is very surprising given that it is the longest relationshipof an individual’s life. With the exception of a research on a group of adults, in our country, aswe know, there was no systematic study of this relationship in the early stages of development.Accordingly, the aim of the study was to assess the quality of relationships with older or youngersister, in early adolescence. Participants in this study were 352 adolescents (192 girls and 160boys) ranging in age from 13 to 15. The mean age of the participants was 13.9 years. Adolescentassessed the relationship with the sister who is 1-5 years older or younger than them. Onesubgroup of respondents assessed the relationship with older sister (N = 181) and the other witha younger sister (N = 171). The data were collected by anonymous self-report questionnairecontaining the measures of the children’s perception of quality of sibling relationship. Resultsof the analysis of gender differences indicate that compared to boys, girls perceive significantlymore intimacy, cooperation, friendship and similarities in relationship with their sister. Therewere no significant differences between boys and girls on measures of negative aspects of thesibling relationship. Age difference proved to be significant in almost all measures of the qualityof sibling relationship. In accordance with the assumptions, adolescents and early adolescencehave better relations with their older sister.</p

Paroxysmal non-epileptic disorders in children and adolescents

Cilj i metode rada: opsežnim pregledom literature opisati paroksizmalne neepileptičke napadaje (PNEP) u djetinjstvu i adolescentnoj dobi s naglaskom na semiologiju i razlikovne kliničke značajke poremećaja u odnosu na epileptičke napadaje te dati opće smjernice liječenja. Rezultati: PNEP-i se javljaju kao iznenadni, brzi napadaji koji mogu često recidivirati i mogu biti praćeni gubitkom svijesti ili bez gubitka svijesti. Imaju podrijetlo u cerebralnoj disfunkciji različitog uzroka, ali nikad u poremećaju biolektrične kortikalne aktivnosti. PNEP-i su česti u dječjoj populaciji i javljaju se u bilo kojoj dobi djeteta, od novorođenačke do adolescentne. Oni uključuju anoksično/ hipoksične paroksizmalne poremećaje, psihogene paroksizmalne napadaje, paroksizmalne napadaje u tijeku spavanja, atake sa stereotipnim promjenama pokreta i položaja tijela ili predstavljaju fiziološke oblike ponašanja. Procjenjuje se da oko 10% djece opće populacije ima nekonvulzivne atake. Nalazimo ih u čak 60% dojenčadi sa sumnjom na epileptičke napadaje, 60% djece s određenim stupnjem intelektualnih teškoća i u 20%–25% djece s urednim psihomotornim razvojem. Oko 15% pacijenata upućenih u tercijarne centre za epilepsiju zapravo imaju PNEP. Značajan broj ovih događaja ne zahtijeva specifično liječenje i tijekom vremena spontano regredira. Zaključak: Pedijatri bi trebali identificirati paroksizmalne neepileptičke događaje, izbjegavajući pogrješnu dijagnozu epilepsije i njezine implikacije kao što su nepotrebne pretrage, dugotrajna farmakoterapija te negativne psihosocijalne posljedice za bolesnika (ograničenja, stigmatizacija) i njegovu obitelj. U kliničkoj procjeni i dijagnosticiranju ovih poremećaja treba uzeti u obzir: dob djeteta, kliničku sliku napadaja i rezultate dijagnostičke obrade. Dijagnostička metoda izbora je video EEG poligrafija. U dvojbenim slučajevima najprimjerenije je ove poremećaje klasificirati kao nejasne paroksizmalne napadaje. Kliničko praćenje i ponovna procjena napadaja/događanja/stanja dovest će do ispravne dijagnoze.Aim and methods: Through an extensive review of the literature, to describe paroxysmal non-epileptic seizures(PNEP)in childhood and adolescence, with the emphasis on the semiology and distinguishing clinical features of the disorder in relation to epileptic seizures, and provide general treatment guidelines. Results: PNEPs occur as sudden onset rapid seizures which can frequently recur and may be accompanied by or without loss of consciousness.Their origin is in cerebral dysfunction of various causes but never in disorders of cortical bioelectrical activity. PNEPs are frequent in children and occur at any time in children, from newborns to adolescents. They include anoxic/hypoxic paroxysmal disorders, psychogenic paroxysmal seizures, paroxysmal seizures during sleep, attacks with stereotypical changes in movement and body posture, or represent physiological forms of behaviour. It is estimated that about 10% of children in the general population have non-convulsive attacks.We find them in as many as 60% infants with suspicion of epileptic attacks, 60% of children with a certain degree of intellectual difficulties, and in 20% to 25% of children with normal psychomotor development. About 15% of patients referred to tertiary centres for epilepsy actually have PNEP.A significant number of these events do not require specific treatment and regress spontaneously over time. Conclusion: Paediatricians should identify paroxysmal non-epileptic events, avoiding the mistaken diagnosis of epilepsy and its implications, as unnecessary tests, longterm pharmacotherapy and the negative psycho-social consequences for the patients (restrictions, stigmatization) and their families. In the clinical assessment and diagnosis of these disorders, the following should be taken into account: the child’s age, the clinical picture of the seizure, and the results of diagnostic workup.The diagnostic method of choice is video EEG polygraphy.In case of doubt, it is most appropriate to classify these disorders as paroxysmal events of unclear origin. Clinical monitoring and repeat assessment of the seizures/events/status will lead to the correct diagnosis

The perception of the sister relationship quality among young adolescents

Brat i sestra su uz roditelje najbliži članovi obitelji i bez obzira u kakvom se odnosu nalazili(suparništvo, prijateljstvo) to je jedna od najdubljih emocionalnih veza. Uz izuzetak jednogistraživanja na skupini odraslih, kod nas, koliko je poznato, nije bilo sustavnog istraživanjaovog odnosa u ranijim periodima razvoja. Sukladno tome, cilj provedenog istraživanja bio jeispitati kvalitetu odnosa sa starijom ili mlađom sestrom kod mlađih adolescenata. U istraživanjusu sudjelovali adolescenti (N = 160) i adolescentice (N = 192) u dobi od 13 do 15 godina kojisu imali do 5 godina stariju ili mlađu sestru. Jedna podskupina sudionika procjenjivala je odnossa starijom sestrom (N = 181), a druga s mlađom sestrom (N = 171). Primijenjena je adaptiranaverzija Upitnika o odnosima među braćom i sestrama kojim je obuhvaćeno devet pozitivnih (npr.sličnost, ljubav, prisnost) i šest negativnih aspekata (npr. svađe, natjecanje, antagonizam) odnosakoje dječaci i djevojčice doživljavaju u odnosu sa svojom sestrom. Rezultati analiza rodnihrazlika, između ostalog, ukazuju da u usporedbi s adolescentima, adolescentice percipirajuznačajno više prisnosti ljubavi, suradnje, sličnosti i druženja u odnosu sa sestrom. Nisu utvrđeneznačajne razlike između adolescenata i adolescentica na mjerama negativnih aspekata odnosameđu braćom i sestrama. Nadalje, utvrdile su se razlike u percepciji kvalitete odnosa sa starijomodnosno mlađom sestrom. Faktor dobne razlike pokazao se značajnim na gotovo svim mjeramakvalitete odnosa među braćom i sestrama. U skladu s pretpostavkama, mlađi adolescenti iadolescentice imaju kvalitetniji odnos sa starijom sestrom.Most people grow up in a family with at least one brother or a sister. The relationship betweensiblings can be marked with rivalry and conflict, but it can also be one of the closest and mostintimate relationships that a person has in childhood, adolescence, and adulthood. Unlike parentchildrelationships and children’s peer relationships, there is far less empirical research related tothe study of sibling relationships which is very surprising given that it is the longest relationshipof an individual’s life. With the exception of a research on a group of adults, in our country, aswe know, there was no systematic study of this relationship in the early stages of development.Accordingly, the aim of the study was to assess the quality of relationships with older or youngersister, in early adolescence. Participants in this study were 352 adolescents (192 girls and 160boys) ranging in age from 13 to 15. The mean age of the participants was 13.9 years. Adolescentassessed the relationship with the sister who is 1-5 years older or younger than them. Onesubgroup of respondents assessed the relationship with older sister (N = 181) and the other witha younger sister (N = 171). The data were collected by anonymous self-report questionnairecontaining the measures of the children’s perception of quality of sibling relationship. Resultsof the analysis of gender differences indicate that compared to boys, girls perceive significantlymore intimacy, cooperation, friendship and similarities in relationship with their sister. Therewere no significant differences between boys and girls on measures of negative aspects of thesibling relationship. Age difference proved to be significant in almost all measures of the qualityof sibling relationship. In accordance with the assumptions, adolescents and early adolescencehave better relations with their older sister.</p

A NOVEL DISEASE-CAUSING NF1 VARIANT IN A CROATIAN FAMILY WITH NEUROFIBROMATOSIS TYPE 1

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous syndrome with the estimated prevalence ranging from 1 in 3000 to 1 in 4000 individuals and wide phenotypical variability. NF1 is caused by autosomal dominant heterozygous mutations in the neurofibromin gene which is located on the chromosome 17 (17q11.2). Phenotypically, NF1 patients have a very heterogeneous clinical phenotype. In this study, a novel frameshift NF1 variant was identified in a Croatian family with NF1 (mother and two daughters). The novel variant c. 4482_4483delTA leads to sequence change that creates a premature translational stop signal (p.His1494Glnfs*7) in the NF1 gene. Our study showed that even when the same germline NF1 variant has been identified, there is still huge phenotypic variability in patients even within the same family, and it makes prognosis of the disease more complex. The development of next-generation sequencing technologies which allow rapid and accurate identification of disease-causing mutations becomes crucial for molecular characterization of NF1 patients as well as for patient follow-up, in the context of genetic counseling and clinical management of patients

A NOVEL DISEASE-CAUSING NF1 VARIANT IN A CROATIAN FAMILY WITH NEUROFIBROMATOSIS TYPE 1

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous syndrome with the estimated prevalence ranging from 1 in 3000 to 1 in 4000 individuals and wide phenotypical variability. NF1 is caused by autosomal dominant heterozygous mutations in the neurofibromin gene which is located on the chromosome 17 (17q11.2). Phenotypically, NF1 patients have a very heterogeneous clinical phenotype. In this study, a novel frameshift NF1 variant was identified in a Croatian family with NF1 (mother and two daughters). The novel variant c. 4482_4483delTA leads to sequence change that creates a premature translational stop signal (p.His1494Glnfs*7) in the NF1 gene. Our study showed that even when the same germline NF1 variant has been identified, there is still huge phenotypic variability in patients even within the same family, and it makes prognosis of the disease more complex. The development of next-generation sequencing technologies which allow rapid and accurate identification of disease-causing mutations becomes crucial for molecular characterization of NF1 patients as well as for patient follow-up, in the context of genetic counseling and clinical management of patients

Epliepsy in 14-year old girl with pineal cyst - case report

Cilj: Ciste pinealne žlijezde su rijetko simptomatske, ukoliko su manje od 10 mm. Ciste većega promjera od 10 mm se najčešće prezentiraju glavoboljom, vrtoglavicom, opstruktivnim hidorcefalusom, poreme-ćajima vida i okulomotorike, a rjeđe epilepsijom. Prikaz slučaja: Predstavljamo slučaj 14-godišnje djevojčice s epilepsijom uzrokovanom pinealnom cistom. Obiteljska anamneza je negativna na neurološke bolesti, a perinatalna anamneza je uredna. Elektroencefalogramski nalaz (EEG) bio je fokalno dizritmičan sa zašiljenim valovima desno temporalno, te generaliziranim širenjem i paroksizmalnom tendencijom pri intermitetnoj fotostimulaciji i hiperventilaciji. Magnetska rezonancija (MR) mozga prikazuje cističnu tvorbu pinealne žlijezde, veličine 10 mm i debljine stijenke 1 mm. Transkranijalni color dopler (TCD) krvnih žila mozga bio je uredan. Na započetu antikonvulzivnu terapiju napadaji prestaju. MR nalaz nakon godinu dana prikazuje stacionaran nalaz, napadaji su prestali a pacijentica se žali na povremene glavobolje. Zaključak: Ciste pinealne žlijezde mogu biti uzrokom epilepsije, a obzirom na veličinu ciste i nalaz EEG-a kod naše pacijentice je ta mogućnost vjerojatna. Prvi korak u terapiji je antikonvulzivno liječenje i kliničko praćenje. Za praćenje rasta ciste preporučuje se MR i TCD. Kirurško uklanjanje ciste se radi ukoliko dođe do pogoršanja neuroloških funkcija i/ili rasta ciste.Aim: Cysts of the pineal gland are rarely symptomatic when smaller than 10 mm but those over 10 mm may result in symptoms which may include headache, vertigo, obstructive hydrocephalus, visual and oculomotor disturbances and rarely with epilepsy. Case report: We present the case of a 14-year-old girl with pineal cyst and epilepsy. The family history was uneventful and perinatal anamnesis was normal. The girl had focal and paroxysmal electroencephalogram (EEG) discharges with temporal spikes on the right and with secondary generalization and paroxismal tendency during intermittent photic stimulation and hyperventilation. Brain magnetic resonance imaging (MRI) showed a pineal cyst 10 mm in diameter with a 1 mm cyst wall. Transcranical color doppler (TCD) of brain vessels was normal. The anticonvulsant therapy was started. After initiation of anticonvulsant therapy, the seizures stopped. MRI findings after one year showed no enlargement in cyst size. Conclusion: Epilepsy may be caused by the pineal cyst. This case is in accordance with this statement, considering the size of the cyst and the EEG in our patient. The treatment starts with anticonvulsants and with clinical follow-up, for monitoring the growth of cysts. MRI and TCD are recommended. Surgical treatment is the therapeutic choice in case of deterioration of neurological function and/or cyst growth

Prognostička vrijednost intrakranijskog ultrazvuka u usporedbi s magnetskom rezonancijom mozga u djece s cerebralnom paralizom: populacijska studija

The aim of this population-based study was to evaluate the characteristics of cerebral palsy (CP) in relation to the predominant pattern of the Magnetic Resonance Imaging Classification System (MRI CS) that was analogously applied to the neonatal/early infant cranial ultrasound (CUS). The study included children born during the 2004-2007 period from the Croatian part (C28 RCP-HR ) of the Surveillance of Cerebral Palsy in Europe (SCPE) CP register. Motor functions, accompanying impairments and brain MRI were evaluated in 227 children, 185 of which also had CUS. Concerning CP types, 56% of children had bilateral spastic, 34% unilateral spastic, 9% dyskinetic and 1% ataxic CP type. Gross Motor Function Classification System (GMFCS) revealed that 62.05% had mild (GMFCS I-III ) and 37.85% had severe motor impairment (GMFCS IV-V). CUS showed white matter injury in 60%, gray matter injury in 12%, maldevelopments in 8%, miscellaneous changes in 14%, while 6% were normal; MRI showed significant agreement (κ=0.675, p<0.001). Neuroimaging findings of maldevelopments and predominant gray matter injury were associated with more severe CP, but 7% of children with CP had normal MRI . As we found very good agreement between CUS and MRI findings, CUS is recommended in children at an increased risk of CP if MRI is not available.Cilj ove populacijske studije bio je procijeniti karakteristike cerebralne paralize (CP) u odnosu na predominantni uzorak na magnetskoj rezonanciji mozga prema klasifikacijskom sustavu Magnetic Resonance Imaging Classification System (MRI CS) koji je analogno primijenjen i na novorođenački/rani dojenački intrakranijski ultrazvuk (UZV). Istraživanje je uključivalo djecu rođenu od 2004. do 2007. godine iz hrvatskog dijela (C28 RCP-HR ) Registra Europskog projekta nadzora cerebralne paralize (Surveillance of Cerebral Palsy in Europe, SCPE). Ispitivane su grube i fine motoričke funkcije, pridružena odstupanja i slikovni prikazi mozga u 227 djece s MRI mozga od kojih je 185 imalo i neonatalni/rani dojenački UZV. U odnosu na tip CP, 56% djece imalo je bilateralno spastičnu, 34% jednostrano spastičnu, 9% diskinetsku i 1% ataktičku CP. Prema funkcionalnoj klasifikaciji grubih motoričkih funkcija Gross Motor Function Classification System (GMFCS), 62,05% djece imalo je blaže motoričko oštećenje (GMFCS I-III ), a 37,85% teško motoričko oštećenje (GMFCS IV-V). Intrakranijski UZV pokazao je oštećenje bijele tvari mozga u 60%, ozljedu sive tvari u 12%, poremećaj razvoja mozga u 8%, razne promjene u 14% ispitanika, dok ih je 6% imalo normalan nalaz; MRI je pokazala značajnu podudarnost (κ=0,675, p<0,001). Poremećaji razvoja mozga i predominantne ozljede sive tvari mozga bile su povezane s težim stupnjem CP, no 7% djece s CP imalo je normalnu MRI mozga. Zbog vrlo dobre podudarnosti UZV i MRI nalaza u našem istraživanju UZV se preporučuje kod djece s povećanim rizikom od CP ako MRI nije dostupna

Infantile Spasms in Children with Down Syndrome

Down syndrome (DS) is the most common genetic cause of mental retardation. It is estimated that 5–13% of persons affected by DS have seizures. Infantile spasms are the most common type of seizures and usually are well controlled with steroids and antiepileptic drugs.We present 11 children at the age of 3 years and 4 months to 10 years and 7 months with DS and infantile spasms, treated at Children’s Hospital Zagreb from January 2000 until July 2009. Infantile spasms began at the age of 5 to 10.5 months in 10 children, in one child at the age of 16 months. Only one child had perinatal risk factors for the development of IS. Changes in EEG correlated to hypsarrhythmia. Infantile spasms were treated initially with antiepileptic drugs, most often with valproic acid. Treatment was inefficient in 10/11 patients. After application of ACTH, infantile spasms stopped between 7 and 15 days in 6 patients, until 28th day in 4 patients. Hypsarrhythmia vanished in all children. During follow-up period (2 years and 7 months to 9 years and 5 months) none of the children developed another type of seizures. No major epileptogenic changes were registered in EEG. Antiepileptic therapy was discontinued in 4 children (aged 4 years and 2 months to 5 years). In this group is the boy who died of heart failure. Infantile spasms associated with DS are categorized into symptomatic group. The existence of cerebral pathology and delayed psycho-motor development precedes occurrence of seizures. It is possible to achieve good control of seizures and disappearance of hypsarrhythmia with application of ACTH and antiepileptic drugs

Congenital myotonic dystrophy: case report

Miotonička distrofi ja ili Steinertova bolest druga je po učestalosti mišićna distrofi ja u djetinjstvu, odmah nakon progresivnih mišić- nih distrofi ja (Duchenne i Becker). Incidencija u općoj populaciji iznosi 1:8000 u Europi, 1:30000 u Hrvatskoj. Nasljeđuje se autosomno dominantno, gen je lociran na dugom kraku 19. kromosoma (19q13), a genski produkt je miotonin proteinska kinaza. Bolest nastaje zbog patološkog umnažanja sljedova identičnih trinukleotida CTG unutar nekodirajuće sekvencije gena za miotonin protein kinazu (DMPK). U zdravih osoba broj ponavljanja tripleta CTG iznosi 5-34 i ostaje stabilan tijekom generacija. Kod bolesnih osoba slijed je produljen i sadržava od 50 do nekoliko tisuća trinukleotida CTG, a težina kliničke slike i vrijeme javljanja bolesti koreliraju s veličinom produljenog slijeda. Osobe s brojem tripleta 35-49 zdravi su prenositelji bolesti. Mutacija se češće prenosi preko majke, a svaka sljedeća generacija nosi molekulski i klinički težu mutaciju. Bolest se očituje simptomima više organskih sustava: zahvaćeni su proprečnoprugasti mišići i glatki mišići crijeva, miokard i njegov provodni sustav, endokrini i imunološki sustav, razvija se katarakta, djeca intelektualno zaostaju, a postoje i neurološki defi citi. Prikazujemo muško novorođenče s generaliziranom hipotonijom, facijalnom dismorfi jom, oskudnom mimikom, poteškoćama hranjenja i deformitetima stopala. Iz obiteljske anamneze se saznaje da je sedmogodišnjem bratu postavljena klinička sumnja na facioscapulohumeralnu mišićnu distrofi ju. Ciljani neurološki pregled majke otkrio je slabost mišića lica, nemogućnost čvrstog zatvaranja očiju, akcijsku miotoniju ruku i perkusijsku miotoniju jezika. Zbog toga smo se odlučili učiniti molekularno genetičku analizu kojom je utvrđen alel s punom mutacijom. Potrebno je obaviti i genetičko ispitivanje cijele obitelji.Myotonic dystrophy or Steinert’s disease has the second highest incidence in childhood, immediately after progressive muscular dystrophies (Duchenne and Becker). The incidence in general population is 1:8000 in Europe and 1:30000 in Croatia. This disease is inherited in an autosomal dominant manner. The gene is located on the long arm of chromosome 19 (19q13), gene product is myotonin protein kinase. The disease develops due to pathologic multiplication of the identical CTG trinucleotide repeat inside the noncoding region of the myotonin protein kinase gene (DMPK). The number of repeating CTG triplets ranges from 5 to 34 and it remains stable in healthy persons through generations. Diseased people have the extended sequence that consists of 50 to several thousand CTG trinucleotides, and the severity of the clinical picture and the disease occurrence correlate with the size of the expansion. People with 35-49 triplets are healthy disease carriers. Mutation is more often transmitted by the mother and every next generation carries molecular and clinically more severe mutation. Myotonic dystrophy manifests with symptoms in several organic systems: skeletal striated muscles and smooth intestinal muscles are aff ected, as well as cardiac muscle and its conductive system, endocrine and immune system, with development of cataract, intellectual disability and neurologic defi cits. This study presents a male infant with generalized hypotonia, facial dysmorphism, feeble mime, feeding diffi culties and feet deformities. Family history revealed his 7-yearold brother to be clinically suspected of facioscapulohumeral muscular dystrophy. Targeted neurological examination of the mother showed weakness of facial muscles, inability to fully close her eyes, action myotonia of the hands and percussion myotonia of the tongue, all of these pointing to molecular genetic analysis which determined full mutation allele and the need of genetic examination of the whole family

Rijetka Dravet-like – epileptička encefalopatija s novom mutacijom gena PCDH19

Mutacija gena PCDH19, koji kodira protokaderin 19 na kromosomu Xq22, rezultira epilepičkim sindromom s početkom napadaja u dojenačkoj dobi, s blagim do teškim intelektualnim oštećenjem i autističnim obilježjima ili bez njih. Ovaj poremećaj pokazuje neobičan obrazac X- vezanog nasljeđivanja, koji zahvaća heterozigotne žene, ali štedi hemizigotne muškarce. Smatra se da se temeljni odgovorni mehanizam odnosi na „celularnu interferenciju“. Postoji široki klinički spektar napadaja, uglavnom s početkom u dojenačkom ili ranom dječjem razdoblju. Dio bolesnika pokazuje fenotip nalik na sindrom Dravet. Napadaji se uglavnom javljaju u kratkim serijama, već kod blago do umjereno povišene tjelesne temperature. U početnoj fazi primjena antiepileptičkih lijekova relativno slabo utječe na smanjenje napadaja. No s napredovanjem bolesti, učestalost napadaja i njihova farmakorezistencija opadaju. Mogu se javiti smetnje ponašanja, kao što su autistična, opsesivna ili agresivna obilježja. Prikazana je devetogodišnja djevojčica koja od rane dječje dobi boluje i liječi se od farmakorezistentne epilepsije, koja se klinički prezentirala serijom žarišnih motoričkih napadaja praćenih strahom i vrištanjem. Ponavljani interiktalni i iktalni elektroencefalogrami, u budnosti i spavanju, bili su bez specifi čnih abnormalnosti, kao i slikovni prikaz mozga magnetskom rezonancijom visoke rezolucije (3T). Analizom cerebrospinalnog likvora isključene su upalne bolesti središnjeg živčanog sustava, a opsežnom metaboličkom obradom rijetke bolesti s epileptičkim napadajima. Nakon prvih napadaja preporučen je fenobarbiton, a nakon recidiviranja bila je na terapiji s više kombinacija različitih antiepileptika i nijedna nije bila učinkovita. Potpuna kontrola napadaja nikad nije postignuta. Genskom analizom pronađena je nova heterozigotna nonsense mutacija (c.1630C>T ; p. Q544X) u egzonu 1 gena PCDH 19 na Xq22.1. U terapiju je uključen perampanel uz valproat i levetiracetam. Željeli smo upozoriti na rijedak oblik epileptičke encefalopatije od koje obolijevaju samo ženska djeca i na koju treba obratiti pozornost u diferencijalnoj dijagnozi nekontroliranih epileptičkih sindroma vezanih za febrilna stanja