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

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
Category: Review
Volume: Vol. 64, No 4, october - december 2020
Authors: Ksenija Fumić, Iva Bilandžija Kuš
Reference work: Paediatr Croat. 2020;64:277-81
DOI: http://dx.doi.org/10.13112/PC.2020.40

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