{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T10:49:46Z","timestamp":1785926986083,"version":"3.56.0"},"reference-count":40,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[1994,1,1]],"date-time":"1994-01-01T00:00:00Z","timestamp":757382400000},"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":[[1994,1]]},"abstract":"<jats:p>\n                    Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, recurrent sinopulmonary infections, oculocutaneous telangiectasia, selective immunoglobulin deficiency, and defective cellular immunity. We report a 4-year-old girl with ataxia telangiectasia whose initial magnetic resonance imaging (MRI) scan at 17 months of age showed leukoencephalopathy compatible with a leukodystrophy, a neuroimaging feature of ataxia telangiectasia that has not been described. Ataxia telangiectasia was not suspected until the child developed more typical clinical features. Diffuse white-matter high signal intensity on T\n                    <jats:sub>2<\/jats:sub>\n                    -weighted MRI scans may occur in the early stages of ataxia telangiectasia. This disease should be considered in the differential diagnosis of any child with a history and MRI findings suggestive of one of the leukodystrophies. The nonneurologic manifestations of ataxia telangiectasia may be of help diagnostically in this clinical setting. (J Child Neurol 1994;9:31-35).\n                  <\/jats:p>","DOI":"10.1177\/088307389400900106","type":"journal-article","created":{"date-parts":[[2008,12,24]],"date-time":"2008-12-24T02:13:25Z","timestamp":1230084805000},"page":"31-35","source":"Crossref","is-referenced-by-count":24,"title":["Cerebral White-Matter Changes Suggesting Leukodystrophy in Ataxia Telangiectasia"],"prefix":"10.1177","volume":"9","author":[{"given":"E.O.","family":"Chung","sequence":"first","affiliation":[{"name":"Department of Neurology and Pediatrics, West Virginia University Health Science Center, Morgantown, WV"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.B.","family":"Bodensteiner","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatrics, West Virginia University Health Science Center, Morgantown, WV"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.A.","family":"Noorani","sequence":"additional","affiliation":[{"name":"Pediatric Department, Section of Pediatric Neurology Keesler Medical Center, Keesler Air Force Base, Biloxi, MS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"S.S.","family":"Schochet","sequence":"additional","affiliation":[{"name":"Department of Pathology West Virginia University Health Science Center, Morgantown, WV"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[1994,1,1]]},"reference":[{"key":"atypb1","first-page":"209","volume":"36","author":"Swift M.","year":"1976","journal-title":"Cancer Res"},{"key":"atypb2","unstructured":"Sedgwick RP, Boder E.: Ataxia-telangiectasia, in Vinker PJ, Bruyn GW (eds): Handbook of Clinical Neurology , vol 14. 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