{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T03:26:44Z","timestamp":1792294004060,"version":"4.4.0"},"reference-count":57,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2023,4,14]],"date-time":"2023-04-14T00:00:00Z","timestamp":1681430400000},"content-version":"vor","delay-in-days":44,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years. The urge for earlier diagnosis increases with the availability of enzyme replacement therapy. A panel of nine Brazilian child neurologists combined their expertise in CLN2 with evidence from the medical literature to establish a consensus to manage this disease in Brazil. They voted 92 questions including diagnosis, clinical manifestations, and treatment of the disease, considering the access to healthcare in this country. Clinicians should suspect CLN2 disease in any child, from 2 to 4 years old, with language delay and epilepsy. Even though the classic form is the most prevalent, atypical cases with different phenotypes can be found. Electroencephalogram, magnetic resonance imaging, molecular and biochemical testing are the main tools to investigate and confirm the diagnosis. However, we have limited access to molecular testing in Brazil, and rely on the support from the pharmaceutical industry. The management of CLN2 should involve a multidisciplinary team and focus on the quality of life of patients and on family support. Enzyme replacement therapy with Cerliponase \u03b1 is an innovative treatment approved in Brazil since 2018; it delays functional decline and provides quality of life. Given the difficulties for the diagnosis and treatment of rare diseases in our public health system, the early diagnosis of CLN2 needs improvement as enzyme replacement therapy is available and modifies the prognosis of patients.<\/jats:p>","DOI":"10.1055\/s-0043-1761434","type":"journal-article","created":{"date-parts":[[2023,4,14]],"date-time":"2023-04-14T23:57:07Z","timestamp":1681516627000},"page":"284-295","source":"Crossref","is-referenced-by-count":15,"title":["Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group"],"prefix":"10.1055","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6385-5012","authenticated-orcid":false,"given":"Leticia Pereira de Brito","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Hospital das Cl\u00ednicas, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0346-3417","authenticated-orcid":false,"given":"Maria Luiza Giraldes de","family":"Manreza","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Hospital das Cl\u00ednicas, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0043-5373","authenticated-orcid":false,"given":"Andr\u00e9","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Universidade Estadual do Cear\u00e1, Hospital Infantil Albert Sabin, Fortaleza CE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3335-1491","authenticated-orcid":false,"given":"Juliana","family":"Gurgel-Giannetti","sequence":"additional","affiliation":[{"name":"Universidade Federal de Minas Gerais, Faculdade de Medicina, Hospital das Cl\u00ednicas, Belo Horizonte MG, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2888-929X","authenticated-orcid":false,"given":"Ana Carolina","family":"Coan","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Campinas SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3123-2264","authenticated-orcid":false,"given":"H\u00e9lio van der Linden","family":"J\u00fanior","sequence":"additional","affiliation":[{"name":"Instituto de Neurologia de Goi\u00e2nia, Goi\u00e2nia GO, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5387-6418","authenticated-orcid":false,"given":"Em\u00edlia Katiane","family":"Embiru\u00e7u","sequence":"additional","affiliation":[{"name":"Universidade do Estado da Bahia, Hospital Universit\u00e1rio Professor Edgard Santos, Salvador BA, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5303-5528","authenticated-orcid":false,"given":"Ad\u00e9lia Maria de Miranda","family":"Henriques-Souza","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Integral Professor Fernando Figueira, Recife PE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7577-9122","authenticated-orcid":false,"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Hospital das Cl\u00ednicas, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,4,14]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1542\/peds.44.4.570","article-title":"Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic 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Wibbeler","year":"2021","journal-title":"J Child Neurol"},{"issue":"08","key":"ref21","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1111\/epi.13820","article-title":"Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease","volume":"58","author":"N Specchio","year":"2017","journal-title":"Epilepsia"},{"issue":"13","key":"ref22","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1177\/0883073816658659","article-title":"Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker?","volume":"31","author":"D V Albert","year":"2016","journal-title":"J Child Neurol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.eplepsyres.2018.05.005","article-title":"Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers","volume":"144","author":"L Beltr\u00e1n","year":"2018","journal-title":"Epilepsy 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Placement and Management in Children: A Single-Center Experience","volume":"11","author":"G Di Leo","year":"2019","journal-title":"Nutrients"},{"issue":"03","key":"ref42","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.ymgme.2011.06.018","article-title":"Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis","volume":"104","author":"B R Vuillemenot","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"11","key":"ref43","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1007\/s40265-017-0771-8","article-title":"Cerliponase Alfa: First Global Approval","volume":"77","author":"A Markham","year":"2017","journal-title":"Drugs"},{"issue":"04","key":"ref44","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1002\/ajmg.10660","article-title":"Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 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Schwering","year":"2021","journal-title":"J Child Neurol"},{"issue":"01","key":"ref48","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s11060-014-1531-1","article-title":"Safety of Ommaya reservoirs in children with brain tumors: a 20-year experience with 5472 intraventricular drug administrations in 98 patients","volume":"120","author":"A Peyrl","year":"2014","journal-title":"J Neurooncol"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.pediatrneurol.2016.10.022","article-title":"Intracerebroventricular delivery as a safe, long-term route of administration","volume":"67","author":"J L Cohen-Pfeffer","year":"2017","journal-title":"Pediatr Neurol"},{"issue":"09","key":"ref50","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1002\/pbc.25080","article-title":"Safety profile of long-term intraventricular access devices in pediatric patients receiving radioimmunotherapy for central nervous system 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Genton","year":"2000","journal-title":"Neurology"},{"issue":"06","key":"ref54","first-page":"RC01","article-title":"Prospective Randomized Study of Oral Diazepam and Baclofen on Spasticity in Cerebral Palsy","volume":"10","author":"V Goyal","year":"2016","journal-title":"J Clin Diagn Res"},{"issue":"11","key":"ref55","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1111\/j.1440-1754.2006.00957.x","article-title":"Oral baclofen in children with cerebral palsy: a double-blind cross-over pilot study","volume":"42","author":"A Scheinberg","year":"2006","journal-title":"J Paediatr Child Health"},{"issue":"07","key":"ref56","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1177\/0883073819830579","article-title":"Botulinum Toxins Type A (Bont-A) in the Management of Lower Limb Spasticity in Children: A Systematic Literature Review and Bayesian Network Meta-analysis","volume":"34","author":"P Guyot","year":"2019","journal-title":"J Child Neurol"},{"issue":"02","key":"ref57","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1007\/BF00710258","article-title":"Movement disorders in neuronal ceroid-lipofuscinoses","volume":"16","author":"S Naidu","year":"1993","journal-title":"J Inherit Metab Dis"},{"issue":"03","key":"ref58","doi-asserted-by":"crossref","first-page":"316","DOI":"10.4103\/0028-3886.98524","article-title":"Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses","volume":"60","author":"M Kamate","year":"2012","journal-title":"Neurol India"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.pediatrneurol.2016.02.009","article-title":"Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities","volume":"59","author":"L M Lehwald","year":"2016","journal-title":"Pediatr Neurol"},{"issue":"05","key":"ref60","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1111\/j.1469-8749.1997.tb07438.x","article-title":"Long-term 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