{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:55:07Z","timestamp":1783569307325,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,4,24]],"date-time":"2020-04-24T00:00:00Z","timestamp":1587686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2\u20134\u2009years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. Initial presenting features are similar to a range of common epilepsies. We aim to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present a series of 13 Australian patients with CLN2 disease, describing clinical features, disease evolution, neuroimaging, electroencephalogram, biochemical and genetic results. Expert neuroradiological magnetic resonance imaging (MRI) analysis was retrospectively performed on 10 cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twelve patients presented with seizures, with initial seizures being focal (<jats:italic>n<\/jats:italic> = 4), generalised tonic\u2013clonic (<jats:italic>n<\/jats:italic> = 3), absence (<jats:italic>n<\/jats:italic> = 3) and febrile (<jats:italic>n<\/jats:italic> = 2). Eleven patients (85%) had a language delay before the onset of seizures. Cerebellar or cerebral atrophy was noted in all patients on centralised MRI review, with abnormalities of the brain\u2010stem, ventricles, corpus callosum and hippocampi.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Early language delay with the onset of seizures at 2\u20134\u2009years of age is the hallmark of CLN2 disease. MRI findings of early subtle atrophy in the cerebellum or posterior cortical regions should hasten testing for CLN2 disease to enable early initiation of enzyme replacement therapy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.14890","type":"journal-article","created":{"date-parts":[[2020,4,24]],"date-time":"2020-04-24T09:59:41Z","timestamp":1587722381000},"page":"1210-1218","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Neuronal ceroid lipofuscinosis type 2: an Australian case series"],"prefix":"10.1111","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0997-0372","authenticated-orcid":false,"given":"Alexandra M","family":"Johnson","sequence":"first","affiliation":[{"name":"Department of Neurology Sydney Children's Hospital  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Mandelstam","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"},{"name":"Department of Radiology University of Melbourne  Melbourne Victoria Australia"},{"name":"Imaging and Epilepsy Group The Florey Institute of Neuroscience and Mental Health  Melbourne Victoria Australia"},{"name":"Department of Paediatric Radiology The Royal Children's Hospital Melbourne  Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute The Royal Children's Hospital Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Andrews","sequence":"additional","affiliation":[{"name":"Department of Neurology Sydney Children's Hospital  Sydney New South Wales 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshmi","family":"Nagarajan","sequence":"additional","affiliation":[{"name":"Children's Neuroscience Service Perth Children's Hospital  Perth Western Australia Australia"},{"name":"Faculty of Health and Medical Sciences The University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Rodriguez\u2010Casero","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"},{"name":"Neurology Department The Royal Children's Hospital Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique M","family":"Ryan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute The Royal Children's Hospital Melbourne  Melbourne Victoria Australia"},{"name":"Neurology Department The Royal Children's Hospital Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Neurophysiology Women's and Children's Hospital  Adelaide South Australia Australia"},{"name":"Adelaide Medical School The University of Adelaide  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Imaging and Epilepsy Group The Florey Institute of Neuroscience and Mental Health  Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute The Royal Children's Hospital Melbourne  Melbourne Victoria Australia"},{"name":"Neurology Department The Royal Children's Hospital Melbourne  Melbourne Victoria 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