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The clinical presentation includes severe neurologic impairment and macrocephaly with onset of symptoms at the age of 3\u20135\u00a0months. Biochemical and genetic fundamentals of the disease are elucidated. Imaging diagnosis is principally based on MRI with important role of MR spectroscopy. We report the cerebral sonographic findings in a severely affected infant with CD: Diffuse hyperechogenicity and small multicystic changes of white matter as well as an inverted pattern of echogenicity between cortical gray and subcortical white matter. These findings are compared to to the few cases found in literature and to normal ultrasound examples. Finally, ultrasound and MRI imaging\u00a0findings are correlated.<\/jats:p>","DOI":"10.1007\/s40477-022-00667-2","type":"journal-article","created":{"date-parts":[[2022,2,20]],"date-time":"2022-02-20T18:03:44Z","timestamp":1645380224000},"page":"757-764","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Canavan\u2019s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature"],"prefix":"10.1007","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7139-4890","authenticated-orcid":false,"given":"Leon","family":"Rossler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Lemburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almut","family":"Weitk\u00e4mper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Thiels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Hoffjan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huu Phuc","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"L\u00fccke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph M.","family":"Heyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,2,20]]},"reference":[{"key":"667_CR1","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1001\/archneurpsyc.1931.02230020085005","volume":"25","author":"M Canavan","year":"1931","unstructured":"Canavan M (1931) Schilder\u2019s encephalitis periaxialis diffusa. 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