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A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Authors :
Andrea Nunes
Ana Paula Pereira Scholz de Magalhães
Caio Cunha
Emília Katiane Embiruçu de Araújo Leão
Roberto Giugliani
Marielza Veiga
Joanna Goes Castro Meira
Diana Rojas Málaga
Source :
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200010, Published: 16 DEC 2020, Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020), Repositório Institucional da UFRGS, Universidade Federal do Rio Grande do Sul (UFRGS), instacron:UFRGS
Publication Year :
2020
Publisher :
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), 2020.

Abstract

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.

Details

Language :
English
Database :
OpenAIRE
Journal :
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200010, Published: 16 DEC 2020, Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020), Repositório Institucional da UFRGS, Universidade Federal do Rio Grande do Sul (UFRGS), instacron:UFRGS
Accession number :
edsair.doi.dedup.....d12f8090a76dba042b274122a8bb6068