{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T12:09:58Z","timestamp":1780056598507,"version":"3.54.0"},"reference-count":37,"publisher":"SAGE Publications","issue":"12-14","license":[{"start":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T00:00:00Z","timestamp":1664755200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"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":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative lysosomal storage disorder. Progression is rapid and irreversible, making early diagnosis crucial for timely treatment. A group of pediatric neurologists and neuroradiologists with expertise in CLN2 convened to discuss early electroencephalogram (EEG) and magnetic resonance imaging (MRI) findings in CLN2 diagnosis. Of 18 CLN2 cases, 16 (88.9%) had background slowing and 16 (88.9%) had epileptiform discharges on initial EEG. Seven of 17 (41.2%) patients who received intermittent low-frequency photic stimulation had a photoparoxysmal response. Initial MRIs showed subtle cerebellar (n\u2009=\u200914, 77.8%) or cerebral (n\u2009=\u20099, 50.0%) atrophy, white matter abnormalities (n\u2009=\u200911, 61.1%), and basal ganglia T2 hypointensity (n\u2009=\u20096, 33.3%), which became more apparent on follow-up MRI. The recognition of even subtle cerebellar atrophy and white matter signal changes in children aged 2-5 years who present with language delay, new-onset seizures, and an EEG with epileptiform discharges and background slowing should prompt investigation for CLN2. Because these early signs are not unique to CLN2, genetic testing is essential early in the diagnostic journey.<\/jats:p>","DOI":"10.1177\/08830738221128773","type":"journal-article","created":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T03:05:50Z","timestamp":1664766350000},"page":"984-991","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease"],"prefix":"10.1177","volume":"37","author":[{"given":"Mai-Lan","family":"Ho","sequence":"first","affiliation":[{"name":"Nationwide Children\u2019s Hospital, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine C.","family":"Wirrell","sequence":"additional","affiliation":[{"name":"Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalliopi","family":"Petropoulou","sequence":"additional","affiliation":[{"name":"SUNY Upstate Medical University, Syracuse, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai","family":"Sakonju","sequence":"additional","affiliation":[{"name":"SUNY Upstate Medical University, Syracuse, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorna","family":"Chu","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical Inc, Novato, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Seratti","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical Inc, Novato, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Palasis","sequence":"additional","affiliation":[{"name":"Children\u2019s Healthcare of Atlanta, Atlanta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,10,3]]},"reference":[{"issue":"1","key":"bibr1-08830738221128773","first-page":"682","volume":"13","author":"Kohlsch\u00fctter A","year":"2016","journal-title":"Pediatr Endocrinol Rev"},{"key":"bibr2-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2014.935762"},{"key":"bibr3-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.07.011"},{"key":"bibr4-08830738221128773","unstructured":"National Institute of Neurological Disorders and Stroke. Batten disease fact sheet. Accessed July 2021. https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Batten-Disease-Fact-Sheet"},{"key":"bibr5-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.034"},{"key":"bibr6-08830738221128773","unstructured":"US National Library of Medicine. Genetics Home Reference: CLN2 disease. 2019. Accessed July 2021. https:\/\/ghr.nlm.nih.gov\/condition\/cln2-disease"},{"key":"bibr7-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1042\/EBC20170055"},{"key":"bibr8-08830738221128773","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S241048"},{"key":"bibr9-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23860"},{"key":"bibr10-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812448459"},{"key":"bibr11-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.14890"},{"key":"bibr12-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1177\/2326409818788382"},{"key":"bibr13-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-4642(18)30179-2"},{"key":"bibr14-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1712649"},{"issue":"02","key":"bibr15-08830738221128773","first-page":"S1","volume":"50","author":"Schulz A","year":"2019","journal-title":"Neuropediatrics"},{"key":"bibr16-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816658659"},{"key":"bibr17-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01813-5"},{"key":"bibr18-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.36.1.68"},{"key":"bibr19-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.008"},{"key":"bibr20-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00231-5"},{"key":"bibr21-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00091-5"},{"key":"bibr22-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13820"},{"key":"bibr23-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03319.x"},{"key":"bibr24-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1097\/WNP.0000000000000321"},{"key":"bibr25-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2020.107046"},{"key":"bibr26-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.05.015"},{"key":"bibr27-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.07.009"},{"key":"bibr28-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14346"},{"key":"bibr29-08830738221128773","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A6726"},{"key":"bibr30-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1097\/NMD.0000000000001120"},{"issue":"10","key":"bibr31-08830738221128773","first-page":"1183","volume":"83","author":"McLaughlin MR","year":"2011","journal-title":"Am Fam Physician"},{"key":"bibr32-08830738221128773","doi-asserted-by":"crossref","unstructured":"Hirtz D, Ashwal S, Berg A, et al. Practice parameter: evaluating a first nonfebrile seizure in children: report of the quality standards subcommittee of the American Academy of Neurology, the Child Neurology Society, and the American Epilepsy Society. Neurology. 2000;55(5):616\u2010623.","DOI":"10.1212\/WNL.55.5.616"},{"key":"bibr33-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018-0672"},{"key":"bibr34-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1080\/14737175.2021.1885374"},{"key":"bibr35-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01242-6"},{"key":"bibr36-08830738221128773","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006850"},{"key":"bibr37-08830738221128773","unstructured":"Invitae Corporation. Behind the Seizure\u00ae. 2021. Accessed July 2021. https:\/\/www.invitae.com\/en\/behindtheseizure\/"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738221128773","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738221128773","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738221128773","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:40:40Z","timestamp":1777495240000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738221128773"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,3]]},"references-count":37,"journal-issue":{"issue":"12-14","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1177\/08830738221128773"],"URL":"https:\/\/doi.org\/10.1177\/08830738221128773","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,3]]}}}