{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:55Z","timestamp":1777803655357,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2014,8,12]],"date-time":"2014-08-12T00:00:00Z","timestamp":1407801600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Metachromatic leukodystrophy is a rare disorder of myelin metabolism. This degenerative disorder results from the accumulation of cerebroside sulfatide within the myelin sheath of central and peripheral nervous system, due to deficiency of aryl sulfatase A enzyme. We report a 5-year-old male child, who presented with regression of milestones, recurrent seizures and spasticity from second year of life. Initially neurodegenerative disorder was considered and the case was investigated with neuroimaging and enzyme levels. Computed tomography (CT) of the brain showed hypodensities in the corpus callosum and bilateral periventricular and deep cerebral white matter suggestive of neurodegenerative disorder. Subsequently, magnetic resonance imaging (MRI) of the brain was done, which showed symmetrical hyperintensities in the periventricular white matter with classical sparing of subcortical \u201cU\u201d fibers. The \u03b2-galactosidase enzyme activity was normal; however, the activity of aryl sulfatase A enzyme was undetectable, confirming the diagnosis of late infantile variant of metachromatic leukodystrophy.<\/jats:p>","DOI":"10.1177\/0883073814542948","type":"journal-article","created":{"date-parts":[[2014,8,13]],"date-time":"2014-08-13T09:31:20Z","timestamp":1407922280000},"page":"483-485","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A 5-Year-Old Male Child With Late Infantile Metachromatic Leukodystrophy"],"prefix":"10.1177","volume":"30","author":[{"given":"Afreen","family":"Mahmood","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swathi","family":"Chacham","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uppin Narayan","family":"Reddy","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jillalla Narsing","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. Pratap","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad, Andhra Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,8,12]]},"reference":[{"key":"bibr1-0883073814542948","doi-asserted-by":"publisher","DOI":"10.3126\/jnps.v31i2.4644"},{"key":"bibr2-0883073814542948","unstructured":"Gene reviews. Arylsulfatase A deficiency [updated February 6, 2014]. Available at http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1130\/. Accessed April 3, 2014."},{"key":"bibr3-0883073814542948","unstructured":"National Library of Medicine (US) Genetics Home Reference [updated February 2013) available at: http:\/\/ghr.nlm.gov\/condition\/metachromaticleukodystrophy. Accessed April 4, 2014."},{"key":"bibr4-0883073814542948","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31826e9ad2"},{"key":"bibr5-0883073814542948","first-page":"592","volume-title":"Nelson Textbook of Pediatrics","author":"Michael V Johnson","year":"2008","edition":"18"},{"key":"bibr6-0883073814542948","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00077-5"},{"key":"bibr7-0883073814542948","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/42.2.232"},{"key":"bibr8-0883073814542948","first-page":"1003","author":"Kidd D","year":"1996","journal-title":"Bone Marrow Transplant"},{"key":"bibr9-0883073814542948","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21522"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814542948","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073814542948","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814542948","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:18Z","timestamp":1777495038000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073814542948"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2014,8,12]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1177\/0883073814542948"],"URL":"https:\/\/doi.org\/10.1177\/0883073814542948","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,12]]}}}