Back to Search
Start Over
A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
- 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.
- Subjects :
- Medicine (General)
Batten disease
Childhood neurodegenerative diseases
Endocrinology, Diabetes and Metabolism
Lysosomal storage disorders
Doenças por armazenamento dos lisossomos
Bioinformatics
medicine.disease_cause
Neuronal Ceroid Lipofuscinoses
R5-920
Lysosomal Storage Disorders
medicine
Gene
Mutação
Genetics (clinical)
Neuronal Ceroid-Lipofuscinoses
TPP1
Mutation
Relatos de casos
business.industry
CLN2
Lipofuscinoses ceróides nueronais
medicine.disease
Tripeptidyl peptidase I
Doenças neurodegenerativas
Phenotype
Neuronal Ceroid Lipofuscinosis Type 2
Pediatrics, Perinatology and Child Health
business
Subjects
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