Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy?

Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America

“…There is one case description of CLN2 disease with biventricular dilation and severe heart failure but no definitive conclusion on whether the pathophysiological mechanisms of the disease may cause heart failure. (38) Recommended tools for use in patient assessment (3,39 CLN2 disease is a progressive, chronic, multi-system neurological condition in which cognitive, motor and sensorineural functions affected by the disease cannot be reverted with the treatments available at the present time. This translates into a significant impact on patient and family quality of life as a result of challenges with daily living which, to compound things, cannot be expressed during consultation time which is mostly devoted to the physical aspects of the disease.…”