Review article

https://doi.org/10.13112/PC.2020.40

Challenges and possibilities of selective laboratory diagnostics of neuronal ceroid lipofuscinosis types 1 and 2 in Croatia

Ksenija Fumić
Iva Bilandžija Kuš

Abstract

Neuronal ceroid lipofuscinoses are one of the most common neurometabolic disorders in children. Enhanced diagnostic and therapeutic possibilities, primarily for ceroid lipofuscinosis type 2, presents a challenge for timely diagnosis, which is mostly off ered in large
diagnostic centres. Early diagnosis of this disease is of utmost importance to ensure optimum care for children and their families, but
is challenging mainly due to the lack of awareness of the disease, along with its nonspecifi c initial symptoms. The aim of this article
is to provide basic information on the availability of selective laboratory diagnostics for ceroid lipofuscinosis types 1 and 2 in Croatia
and off er such diagnostics also to paediatric neurologists from neighbouring countries.

Keywords

NEURONAL CEROID-LIPOFUSCINOSES; CROATIA; LABORATORIES; DRIED BLOOD SPOT TESTING

Hrčak ID:

251943

URI

https://hrcak.srce.hr/251943

Publication date:

30.12.2020.

Article data in other languages: croatian

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