Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?

Abstract

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.