A case report on the challenging diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2)

• Autor(a) principal: Nunes, Andrea
• Data de Publicação: 2020
• Outros Autores: Meira, Joanna, Cunha, Caio, Veiga, Marielza, Magalhães, Ana Paula Pereira Sholz de, Málaga, Diana Elizabeth Rojas, Giugliani, Roberto, Leão, Emília Katiane Embiruçu de Araújo
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/220782
• topic: Doenças por armazenamento dos lisossomos; Lipofuscinoses ceróides nueronais; Doenças neurodegenerativas; Relatos de casos; Mutação; Lysosomal storage disorders; Neuronal ceroid lipofuscinoses; CLN2; TPP1; Childhood neurodegenerative diseases

Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient activity of the tripeptidyl peptidase I (TPP1) enzyme, encoded by the TPP1 gene, most frequently leading to the classic late infantile phenotype. Nearly 140 CLN2- causing mutations have been described. In this case report, we describe the identification of a new disease-causing mutation and highlight the importance of appropriate laboratory investigation based on clinical suspicion. The collection of dried blood spots (DBS) on filter paper, which is a convenient sample, can be used to measure the TPP1 enzyme activity and detect CLN2-related mutations. Since the biochemical and genetic diagnoses are possible and as the disease progression is fast and the therapeutic window is short, the investigation of CLN2 should be always considered when this diagnostic hypothesis is raised in order to enable the patients to benefit from the specific pharmacological treatment.