{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:42:23Z","timestamp":1786650143038,"version":"build-2736575974"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Neuronal ceroid lipofuscinosis (NCL) are a group of genetically mediated neurodegenerative disorders affecting children and young adults. They are characterized by global mental and motor deterioration, vision loss, and epilepsy ultimately resulting in death. Of the various types, late infantile variety is the 2\n                      <jats:sup>nd<\/jats:sup>\n                      most common form of NCL. Here the authors report a case of a 9-year-old boy who presented with progressive mental and social deterioration since the age of 2\u00bd years. As the disease progressed, he developed progressive vision loss, gait ataxia, action myoclonus, and epilepsy. Electroencephalogram revealed generalized sharp and slow wave discharges with background slowing. Magnetic resonance imaging of the brain revealed diffuse cerebral and cerebellar atrophy markedly affecting the cerebellum along with periventricular T2 hyperintensities. Skin biopsy from axilla revealed characteristic intracytoplasmic eosinophilic inclusions and periodic acid Schiff positive bodies within the eccrine ducts suggestive of NCL.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0972-2327.112500","type":"journal-article","created":{"date-parts":[[2013,5,24]],"date-time":"2013-05-24T04:37:35Z","timestamp":1369370255000},"page":"282-285","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Late infantile neuronal ceroid lipofuscinosis"],"prefix":"10.4103","volume":"16","author":[{"given":"Rajesh","family":"Verma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tushar Premraj","family":"Raut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navin","family":"Tiwari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran Preet","family":"Malhotra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuzhat","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hardeep Singh","family":"Malhotra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-37-20260109","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1006\/mgme.2000.3057","article-title":"Neuronal ceroid lipofuscinoses and possible pathogenic mechanism","volume":"71","author":"Zhong","year":"2000","journal-title":"Mol Genet Metab"},{"key":"R2-37-20260109","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1212\/01.wnl.0000267885.47092.40","article-title":"Neurological deterioration in late infantile neuronal ceroid lipofuscinosis","volume":"69","author":"Worgall","year":"2007","journal-title":"Neurology"},{"key":"R3-37-20260109","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0959-437X(00)00086-1","article-title":"Genetics of the neuronal ceroid lipofuscinoses","volume":"10","author":"Peltonen","year":"2000","journal-title":"Curr Opin Genet Dev"},{"key":"R4-37-20260109","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/S1071-9091(96)80031-3","article-title":"The neuronal ceroid-lipofuscinoses","volume":"3","author":"Goebel","year":"1996","journal-title":"Semin Pediatr Neurol"},{"key":"R5-37-20260109","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":"Kamate","year":"2012","journal-title":"Neurol India"},{"key":"R6-37-20260109","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S1059-1311(03)00163-8","article-title":"Neuronal ceroid lipofuscinosis: A clinicopathological study","volume":"13","author":"Sinha","year":"2004","journal-title":"Seizure"},{"key":"R7-37-20260109","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/BF02762187","article-title":"Juvenile neuronal ceroid lipofuscinosis","volume":"67","author":"Gulati","year":"2000","journal-title":"Indian J Pediatr"},{"key":"R8-37-20260109","first-page":"93","article-title":"Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient","volume":"7","author":"Ko","year":"2001","journal-title":"Hong Kong Med J"},{"key":"R9-37-20260109","first-page":"7","article-title":"About Late infantile amaurotic familial idiocy with cerebellar symptoms","volume":"50","author":"Bielschowsky","year":"1913","journal-title":"Dtsch Z Nervenheilkd"},{"key":"R10-37-20260109","doi-asserted-by":"crossref","first-page":"331","DOI":"10.3349\/ymj.2003.44.2.331","article-title":"A case of late infantile neuronal ceroid lipofuscinosis","volume":"44","author":"Lee","year":"2003","journal-title":"Yonsei Med J"},{"key":"R11-37-20260109","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jnnp.40.4.323","article-title":"So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children","volume":"40","author":"Pampiglione","year":"1977","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R12-37-20260109","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1055\/s-2008-1071590","article-title":"Somatosensory evoked potentials with high cortical amplitudes: Clinical data in 31 children","volume":"25","author":"Schmitt","year":"1994","journal-title":"Neuropediatrics"},{"key":"R13-37-20260109","doi-asserted-by":"crossref","first-page":"S75","DOI":"10.1007\/s100720070044","article-title":"Neuronal ceroid lipofuscinoses: Clinical and EEG findings in a large study of Italian cases","volume":"21","author":"Veneselli","year":"2000","journal-title":"Neurol Sci"},{"key":"R14-37-20260109","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/S0887-8994(96)00224-X","article-title":"Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis","volume":"15","author":"Petersen","year":"1996","journal-title":"Pediatr Neurol"},{"key":"R15-37-20260109","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1055\/s-2007-973672","article-title":"Morphologic diagnosis in neuronal ceroid lipofuscinosis","volume":"28","author":"Goebel","year":"1997","journal-title":"Neuropediatrics"},{"key":"R17-37-20260109","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-2660(01)45002-4","article-title":"Neuronal ceroid lipofuscinoses: Classification and diagnosis","volume":"45","author":"Wisniewski","year":"2001","journal-title":"Adv Genet"},{"key":"R18-37-20260109","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1016\/j.jocn.2010.03.027","article-title":"Neuronal ceroid lipofuscinosis diagnosed via skin biopsy","volume":"17","author":"Puri","year":"2010","journal-title":"J Clin Neurosci"},{"key":"R19-37-20260109","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1002\/ana.10143","article-title":"Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons","volume":"51","author":"Dhar","year":"2002","journal-title":"Ann Neurol"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/02223306-201316020-00037","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:04:17Z","timestamp":1786647857000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/02223306-201316020-00037"}},"subtitle":["A case report with review of literature"],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.4103\/0972-2327.112500","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4]]}}}