Abstract
Abstract Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric neurologists from Colombia, Argentina, Brazil and Chile. The aim of the expert panel was to describe a framework for standardized follow-up in patients with neuronal ceroid lipofucsinosis-2 disease, on or off therapy, that could benefit patients and treating physicians alike. Experts made recommendations in the following areas: seizures, abnormal movements and ataxia, sleep disorders and pain, cognitive function, visual function, hearing and speech, cardiac function, quality of life, and motor function. Recommendations include the most appropriate tools for use in the Latin-American context and health care systems, and provide feasible follow-up guidance, applicable in public and private healthcare facilities. They take into consideration the availability of clinical assessment resources, tools (scales, questionnaires, paraclinical tests) and access to these tools in Latin-American countries, as well as other regional and local needs defined by the participating experts.
Highlights
Neuronal ceroid lipofucsinosis-2 (CLN2) disease (OMIM # 204500), known as late infantile form, is a pediatric disease caused by intracellular fluorescent ceroid and lipofuscin-like deposits containing lipid peroxides and a subunit c of mitochondrial ATP synthase in different body tissues
The aim of this work was to describe a framework for standardized follow-up in patients with CLN2 disease, on or off therapy, based on expert recommendations
Seizures become refractory to treatment soon and patients end up receiving multiple medications
Summary
Neuronal ceroid lipofucsinosis-2 (CLN2) disease (OMIM # 204500), known as late infantile form, is a pediatric disease caused by intracellular fluorescent ceroid and lipofuscin-like deposits containing lipid peroxides and a subunit c of mitochondrial ATP synthase in different body tissues. It is characterized by rapidly progressing epilepsy due to the destruction of the central nervous system as a result of neuronal death related to lipofuscin accumulation in neuronal and glial cell lysosomes. The disease follows a devastatingly rapid course, with symptoms and loss of function advancing with age. The following is the timeline of symptom onset and loss of function in the classic form of CLN2 disease (Figure 1)
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