Artículo de revista
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
Fecha
2020Registro en:
Journal of Paediatrics and Child Health 57 (2021) 519–525
10.1111/jpc.15250
Autor
Lourenco, Charles M.
Pessoa, Andre
Mendes, Carmen C.
Rivera Nieto, Carolina
Vergara, Diane
Troncoso, Mónica
Gardner, Emily
Mallorens, Francisca
Tavera, Lina
Lizcano, Luis A.
Atanacio, Nora
Guelbert, Norberto
Specola, Norma
Mancilla, Nury
De Souza, Carolina F. M.
Mole, Sara E
Institución
Resumen
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.
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 S~ao
Paulo, Brazil, in October 2018.
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.
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.