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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

Authors :
Lourenço CM
Pessoa A
Mendes CC
Rivera-Nieto C
Vergara D
Troncoso M
Gardner E
Mallorens F
Tavera L
Lizcano LA
Atanacio N
Guelbert N
Specola N
Mancilla N
de Souza CFM
Mole SE
Source :
Journal of paediatrics and child health [J Paediatr Child Health] 2021 Apr; Vol. 57 (4), pp. 519-525. Date of Electronic Publication: 2020 Dec 30.
Publication Year :
2021

Abstract

Aim: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2-4 years and culminating in early death. Atypical cases associated with earlier or later symptom onset, or even protracted course, have already been reported. Such variable manifestations may constitute an additional challenge to early diagnosis and initiation of appropriate treatment. The present work aimed to analyse clinical data from a cohort of Latin American CLN2 patients with atypical phenotypes.<br />Methods: Experts in inborn errors of metabolism from Latin America selected patients from their centres who were deemed by the clinicians to have atypical forms of CLN2, according to the current literature on this topic and their practical experience. Clinical and genetic data from the medical records were retrospectively revised. All cases were presented and analysed by these experts at an Advisory Board Meeting in São Paulo, Brazil, in October 2018.<br />Results: Seizures, language abnormalities and behavioural disorders were found as the first manifestations, appearing at the median age of 6 years, an older age than classically described for the late infantile form. Three novel mutations were also identified.<br />Conclusion: Our findings reinforce the inclusion of CLN2 in the differential diagnosis of children presenting with seizures, behavioural disorders and language abnormalities. Early diagnosis will allow early initiation of specific therapy.<br /> (© 2020 The Authors. Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Details

Language :
English
ISSN :
1440-1754
Volume :
57
Issue :
4
Database :
MEDLINE
Journal :
Journal of paediatrics and child health
Publication Type :
Academic Journal
Accession number :
33377563
Full Text :
https://doi.org/10.1111/jpc.15250