"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series".

ABSTRACT:

Introduction

Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease.

Methods

Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment.

Results

An atypical phenotype, associated with initial symptoms and late di

SUBMITTER: Espitia Segura OM 

PROVIDER: S-EPMC7873677 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature