{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T14:51:51Z","timestamp":1788360711720,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T00:00:00Z","timestamp":1609286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>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\u20134\u2009years 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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\u00e3o Paulo, Brazil, in October 2018.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seizures, language abnormalities and behavioural disorders were found as the first manifestations, appearing at the median age of 6\u2009years, an older age than classically described for the late infantile form. Three novel mutations were also identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.15250","type":"journal-article","created":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T21:20:59Z","timestamp":1609363259000},"page":"519-525","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world"],"prefix":"10.1111","volume":"57","author":[{"given":"Charles M","family":"Louren\u00e7o","sequence":"first","affiliation":[{"name":"School of Medicine Est\u00e1cio University Center  Ribeir\u00e3o Preto S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Service, Albert Sabin Children's Hospital University of Cear\u00e1 State  Fortaleza Cear\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen C","family":"Mendes","sequence":"additional","affiliation":[{"name":"Reference Center in Inborn Errors of Metabolism, Department of Pediatrics Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Rivera\u2010Nieto","sequence":"additional","affiliation":[{"name":"Medical Genetic Service Fundaci\u00f3n Cardioinfantil  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Vergara","sequence":"additional","affiliation":[{"name":"Service of Children Neuropsychiatry, San Borja Arriar\u00e1n Hospital School of Medicine of the University of Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Troncoso","sequence":"additional","affiliation":[{"name":"Service of Children Neuropsychiatry, San Borja Arriar\u00e1n Hospital School of Medicine of the University of Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Gardner","sequence":"additional","affiliation":[{"name":"UCL MRC Laboratory for Molecular Cell Biology University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Mallorens","sequence":"additional","affiliation":[{"name":"Medical Genetics Section Hospital Nacional Prof. A. 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