prikaz prve stranice dokumenta Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?
  Download
PDF 345.31 KB
Professional paper - Review paper
Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?
Paediatria Croatica, 64 (2020), 4; 223-228. https://doi.org/10.13112/PC.2020.34
Prpić, Igor

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

Cite this document

Prpić, I. (2020). Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?. Paediatria Croatica, 64. (4), 223-228. doi: 10.13112/PC.2020.34

Prpić, Igor. "Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?." Paediatria Croatica, vol. 64, no. 4, 2020, pp. 223-228. https://doi.org/10.13112/PC.2020.34

Prpić, Igor. "Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?." Paediatria Croatica 64, no. 4 (2020): 223-228. https://doi.org/10.13112/PC.2020.34

Prpić, I. (2020) 'Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?', Paediatria Croatica, 64(4), pp. 223-228. doi: 10.13112/PC.2020.34

Prpić I. Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?. Paediatria Croatica [Internet]. 2020 [cited 2024 November 07];64(4):223-228. doi: 10.13112/PC.2020.34

I. Prpić, "Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?", Paediatria Croatica, vol. 64, no. 4, pp. 223-228, 2020. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:193175. [Accessed: 07 November 2024]

Metadata
Title (english)Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?
Title (croatian)Rana dijagnoza neuronske* ceroidne lipofuscinoze tip 2 - mit ili stvarnost?
AuthorIgor Prpić
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Neuronal ceroid lipofuscinosis type 2 (CLN2) is the most common childhood progressive neurodegenerative disease. The main features of CLN2 disease are language delay that precedes epileptic seizures, motor disorders, progressive deterioration of vision and cognition with death in early adolescence. The average time from the onset of fi rst symptoms to diagnosis is about two years. Delay in diagnosis postpones therapeutic approach involving multidisciplinary health care and effi cacious enzyme replacement therapy with cerliponase alpha (Brineura®). The availability of enzyme replacement therapy classifi es CLN2 disease in the group of treatable neurodegenerative diseases. Recognition of early symptoms is crucial to direct clinicians to appropriate examinations or seek additional expert opinion. Timely diagnosis is imperative because it allows treatment at an early stage of the disease. In all children with the fi rst unprovoked epileptic seizures between the ages of two and four, and particularly in those children with a history of language delay and motor impairment, the fi rst step is to measure the TTP1 enzyme activity by dried blood spot testing, which is available in our setting. Genetic testing and a fi nding of pathogenic mutations in the CLN2 gene confi rm the diagnosis. Raising awareness of CLN2 disease as a treatable and potentially curable disease and following the proposed guidelines will certainly contribute to early diagnosis of CLN2 disease to become our reality rather than a myth. Timely and accurate diagnosis is the fi rst step in improving the overall care of children with CLN2 disease and their parents.
Abstract (croatian)
Neuronska ceroidna lipofuscinoza-tip 2 (CLN2) najčešća je dječja progresivna neurodegenerativna bolest. Glavna obilježja bolesti CLN2 su usporen razvoj govora koji prethodi epileptičkim napadajima, motoričkim poremećajima, progresivnom propadanju vida i kognitivnih funkcija te smrti u dobi rane adolescencije. Prosječno vrijeme od pojave prvih simptoma do postavljenja dijagnoze iznosi oko dvije godine. Kašnjenje u postavljanju dijagnoze odgađa terapijski pristup koji uključuje multidisciplinsku zdravstvenu skrb i učinkovitu primjenu enzimske nadomjesne terapije cerliponazom alfa (Brineura®). Dostupnost liječenja enzimskom nadomjesnom terapijom cerliponazom alfa svrstava CLN2 u skupinu lječivih neurodegenerativnih bolesti. U svake lječive i/ili potencijalno izlječive progresivne neurodegenrativne bolesti pravodobna dijagnoza je ključna, jer omogućuje liječenje u ranom stadiju bolesti. Prepoznavanje ranih simptoma od bitnog je značenja za usmjeravanje kliničara na odgovarajuće pretrage ili traženje dodatnog stručnog mišljenja. U sve djece s prvim neprovociranim epileptičkim napadajem u dobi između druge i četvrte godine, a izričito u one djece koja dodatno u anamnezi imaju podatak o usporenom razvoju govora i/ili motoričke smetnje prvi korak u cilju rane i pravodobne dijagnoze je mjerenje aktivnosti enzima TTP1 putem suhe kapi krvi na fi ltarskom papiru, koji je dostupan u našoj sredini. Dodatna genska analiza i nalaz patogenih mutacija u genu CLN2 potvrđuje dijagnozu. Podizanje svjesnosti o bolesti CLN2 kao lječivoj i potencijalno izlječivoj, te poštivanje predloženih smjernica u kliničkom pristupu zasigurno će pridonijeti tome da rana dijagnoza bolesti CLN2 postane naša stvarnost, a sve manje bude mit. Pravovremena i ispravna dijagnoza prvi je korak u poboljšanju cjelokupne skrbi za djecu oboljelu od bolesti CLN2 i njihove roditelje.
Keywords (english)
Keywords (croatian)
Languageenglish
Languagecroatian
Publication typeProfessional paper - Review paper
Publication statusPublished
Peer reviewPeer review - domestic
Publication versionPublished version
Journal titlePaediatria Croatica
Numberingvol. 64, no. 4, pp. 223-228
p-ISSN1330-1403
e-ISSN1846-405X
DOIhttps://doi.org/10.13112/PC.2020.34
URN:NBNurn:nbn:hr:184:193175
Publication2020
Document URLhttps://hrcak.srce.hr/251928
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2021-02-10 10:38:39