Neuronal Ceroid Lipofuscinosis Type 2- Early Diagnosis Importance for Treatment Start with Cerpolinase Alfa: A Case Report

Case presentation: Female patient, 4 years old, cousin parents. Normal development up to 3 when seizures started as cephalic and ocular versions, labial commissure myoclonus, left upper limb flexion lower extension, lasting 5–6 minutes, in addition atonic crises. An electroencephalogram showed paroxysms the right temporal region, a brain magnetic resonance imaging cerebellar atrophy. Treatment with levetiracetam valproic acid. Progressed an increase frequency duration of seizures, global ataxia. After condition worsened, she was referred our service for investigation. A genetic panel epilepsies ataxias requested, which alteration homozygosity TPP1 gene, confirming diagnosis neuronal ceroid lipofuscinosis type 2 (CLN2). At time diagnosis, scored 8/12 on Hamburg Scale, 10/12 Weill Cornell scale, 4/6 motor-language CLN2 scale. court order made treatment cerliponase alfa possible. This is first patient Espírito Santo state who will undergo treatment.