{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:55:28Z","timestamp":1777802128532,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2005,10,1]],"date-time":"2005-10-01T00:00:00Z","timestamp":1128124800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:p>Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive disorder caused by a deficiency of a lysosomal enzyme, galactocerebrosidase. This defect prevents normal turnover of the galactolipids and results in progressive demyelination. In the infantile form, symptoms typically present at 3 to 6 months of age with subsequent neurologic deterioration. We report a case with presentation on day 7 of life and rapid progression culminating in death at 10 weeks. Galactocerebrosidase activity was absent in the leukocytes, and a 30 kb deletion in the GALC gene was found. To our knowledge, this is the earliest reported death from Krabbe disease. Several family members have multiple sclerosis, which is also a demyelinating disorder. We propose that the neonatal expression could be an example of complementary gene interaction in which coinheritance of a predisposition to multiple sclerosis led to the unusual early manifestation and rapid course of Krabbe disease in this infant. ( J Child Neurol 2005;20:826\u2014828).<\/jats:p>","DOI":"10.1177\/08830738050200100901","type":"journal-article","created":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T22:00:05Z","timestamp":1182463205000},"page":"826-828","source":"Crossref","is-referenced-by-count":15,"title":["Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis"],"prefix":"10.1177","volume":"20","author":[{"given":"Inderneel","family":"Sahai","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagit","family":"Baris","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harvey L.","family":"Levy","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Harvard Medical School and Children's Hospital, Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2005,10,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(82)90127-7"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738030180090201"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/39.1-2.74"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052374"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(94)90013-2"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1007\/BF00689987"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1980.00500560076012"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1136\/adc.56.8.640-a"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(97)00049-1"},{"key":"atypb10","first-page":"37","volume":"47","author":"Zlotogora J.","year":"1990","journal-title":"Am J Hum Genet"},{"key":"atypb11","first-page":"1250","volume":"53","author":"Oehlmann R.","year":"1993","journal-title":"Am J Hum Genet"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.2990"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1285"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.12.2335"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(03)00663-X"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738050200100901","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738050200100901","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:31:58Z","timestamp":1777494718000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738050200100901"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1177\/08830738050200100901"],"URL":"https:\/\/doi.org\/10.1177\/08830738050200100901","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10]]}}}