A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
| Autor: | 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 |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
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 |
| Zdroj: | 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 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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