{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:51:37Z","timestamp":1760730697624},"reference-count":3,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,2,3]],"date-time":"2015-02-03T00:00:00Z","timestamp":1422921600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 3\u2010year\u2010old boy was admitted with psychomotor delay, spasticity, progressive visual loss, nystagmus, macrocephaly, and epileptic seizures for diagnostics. Cranial magnetic resonance imaging (MRI) revealed leukodystrophy and multicystic changes. Urine excretion of N\u2010acetylaspartic acid was grossly increased, suggesting Canavan disease. Mutation screening of the <jats:italic>ASPA<\/jats:italic> gene confirmed this diagnosis. The underlying enzymatic defect causes accumulation of N\u2010acetylaspartic acid and subsequent progressive myelin degeneration with characteristic spongy degeneration of the subcortical white matter, normally only seen histologically. We describe this case to show that spongy degeneration in Canavan disease may also be present macroscopically in the form of multiple beaded periventricular cysts on cranial MRI.<\/jats:p>","DOI":"10.1007\/s10545-015-9812-1","type":"journal-article","created":{"date-parts":[[2015,2,2]],"date-time":"2015-02-02T11:22:32Z","timestamp":1422876152000},"page":"983-984","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease"],"prefix":"10.1002","volume":"38","author":[{"given":"Anne","family":"Drenckhahn","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics and the NeuroCure Clinical Research Center Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and the NeuroCure Clinical Research Center Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"Knierim","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and the NeuroCure Clinical Research Center Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1385\/JMN:15:2:61"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-118"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70105-2"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-015-9812-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:50:30Z","timestamp":1694753430000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-015-9812-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,3]]},"references-count":3,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1007\/s10545-015-9812-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-015-9812-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,3]]}}}