{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T06:04:03Z","timestamp":1760853843808,"version":"3.40.4"},"reference-count":14,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,9,8]]},"abstract":"<jats:p>Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a diffuse subcortical leucoencephalopathy with cystic white matter degeneration. Patients with MLC present with macrocephaly at the first year of life, and neurological abnormalities such as motor deterioration, ataxia, spasticity and cognitive defects progress later. MLC is caused by mutations in the gene MLC1, which encodes a novel protein, MLC1. There is no specific treatment for MLC. Management is based on physiotherapy procedures, psychomotor stimulation and treatment of seizures. We report a case of a 1-year-old boy with a normal birth and developmental history, presenting with progressive increase of head size; on further evaluation with CT and MRI of the brain, the child was diagnosed as MLC.<\/jats:p>","DOI":"10.1136\/bcr-2015-211921","type":"journal-article","created":{"date-parts":[[2015,9,21]],"date-time":"2015-09-21T08:07:41Z","timestamp":1442822861000},"page":"bcr2015211921","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration"],"prefix":"10.1136","volume":"2015","author":[{"given":"Prafulla Kumar","family":"Dash","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh Harvey","family":"Raj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hrushikesh","family":"Sahu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,9,21]]},"reference":[{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2014.19"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.2","doi-asserted-by":"publisher","DOI":"10.1159\/000096672"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.3","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370308"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.4","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000115106.88813.5B"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.5","first-page":"33","article-title":"Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings","volume":"20","author":"Pascual-Castroviejo","year":"2005","journal-title":"Neurologia"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.009"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.7","first-page":"525","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features","volume":"51","author":"Chandrashekan","year":"2003","journal-title":"Neurol India"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(03)00006-8"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.9","first-page":"60","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts","volume":"42","author":"Hari Krishnan","year":"2005","journal-title":"Indian Pediatr"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.10","doi-asserted-by":"publisher","DOI":"10.1007\/BF02725646"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.03.010"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.12","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300120"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.13","first-page":"541","article-title":"Alexander disease: diagnosis with MR imaging","volume":"22","author":"Van der Knaap","year":"2001","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025042707093489000_2015.sep21_1.bcr2015211921.14","first-page":"1628","article-title":"Neuroimaging finding in late infantile GM1 gangliosidosis","volume":"19","author":"Chen","year":"1998","journal-title":"AJNR Am J Neuroradiol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2015-211921","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:09:44Z","timestamp":1745762984000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2015-211921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,21]]},"references-count":14,"alternative-id":["10.1136\/bcr-2015-211921"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2015-211921","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2015,9,21]]}}}