Focal Epilepsy as the First Clinical Manifestation of NCL2 without Dementia

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We are reporting about a 5-year-old boy who presented focal seizures at the age of 3½ years with normal development and without any other symptoms. Blood test, lumbar puncture, and MRI were normal. We started therapy with levetiracetam and changed to brivaracetam due to behavioral disorders. As the seizures did not respond, we switched to Sulthiame, without success. Finally, he became seizure free with valproic acid. Genetic testing revealed two variants in the TPP1 gene, which is associated with neuronal ceroid lipofuscinosis (NCL2), a neurodegenerative disorder which typically presents as a focal epilepsy first lacking any other symptoms. With one of the TPP1 variants formally being classified as unclear, we further added biochemical analysis of the enzyme tripeptidyl peptidase (TPP1) which was significantly reduced with 0.03 nmol/ spot*45 hours. In conclusion, the diagnosis of NCL 2 was verified in the patient, who still showed no signs of regression. After consultation with the NCL Department of the University of Hamburg, the patient was connected to the University of Munich, Children's Department, close to his home, where he receives the enzyme replacement therapy after the setup of his Rickham reservoir every 2 weeks without any side effects yet. Publication History Publication Date: 28 October 2021 (online) © 2021. Thieme. All rights reserved. Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

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