{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T22:15:33Z","timestamp":1766268933289},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,9,21]],"date-time":"2012-09-21T00:00:00Z","timestamp":1348185600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2013,6]]},"abstract":"Contiguous ABCD1 DXS1357E<\/jats:styled-content><\/jats:italic> deletion syndrome (CADDS<\/jats:styled-content>) is a contiguous deletion syndrome involving the ABCD1<\/jats:styled-content><\/jats:italic> and DXS1357E<\/jats:styled-content>\/BAP31<\/jats:styled-content><\/jats:italic> genes on Xq28<\/jats:styled-content>. Although ABCD1<\/jats:styled-content><\/jats:italic> is responsible for X<\/jats:styled-content>\u2010linked adrenoleukodystrophy (X\u2010ALD<\/jats:styled-content>), its phenotype differs from that of CADDS<\/jats:styled-content>, which manifests with many features of Zellweger syndrome (ZS<\/jats:styled-content>), including severe growth and developmental retardation, liver dysfunction, cholestasis and early infantile death. We report here the fourth case of CADDS<\/jats:styled-content>, in which a boy had dysmorphic features, including a flat orbital edge, hypoplastic nose, micrognathia, inguinal hernia, micropenis, cryptorchidism and club feet, all of which are shared by ZS<\/jats:styled-content>. The patient achieved no developmental milestones and died of pneumonia at 8 months. Biochemical studies demonstrated abnormal metabolism of very long chain fatty acids, which was higher than that seen in X\u2010ALD<\/jats:styled-content>. Immunocytochemistry and Western blot showed the absence of ALD<\/jats:styled-content> protein (ALDP<\/jats:styled-content>) despite the presence of other peroxisomal proteins. Pathological studies disclosed a small brain with hypomyelination and secondary hypoxic\u2010ischemic changes. Neuronal heterotopia in the white matter and leptomeningeal glioneuronal heterotopia indicated a neuronal migration disorder. The liver showed fibrosis and cholestasis. The thymus and adrenal glands were hypoplastic. Array comparative genomic hybridization (CGH<\/jats:styled-content>) analysis suggested that the deletion was a genomic rearrangement in the 90\u2010kb span starting in DXS1357E<\/jats:styled-content>\/BACP31<\/jats:styled-content><\/jats:italic> exon 4 and included ABCD1<\/jats:styled-content>, PLXNB3<\/jats:styled-content>, SRPK3<\/jats:styled-content>, IDH3G<\/jats:styled-content><\/jats:italic> and SSR4<\/jats:styled-content><\/jats:italic>, ending in PDZD4<\/jats:styled-content><\/jats:italic> exon 8. Thus, the absence of ALDP<\/jats:styled-content>, when combined with defects in the B<\/jats:styled-content>\u2010cell antigen receptor associated protein 31 (BAP31<\/jats:styled-content>) and other factors, severely affects VLCFA<\/jats:styled-content> metabolism on peroxisomal functions and produces ZS<\/jats:styled-content>\u2010like pathology.<\/jats:p>","DOI":"10.1111\/j.1440-1789.2012.01348.x","type":"journal-article","created":{"date-parts":[[2012,9,21]],"date-time":"2012-09-21T06:13:12Z","timestamp":1348207992000},"page":"292-298","source":"Crossref","is-referenced-by-count":27,"title":["Contiguous ABCD1 DXS1357E<\/scp><\/i> deletion syndrome: Report of an autopsy case"],"prefix":"10.1111","volume":"33","author":[{"given":"Mitsuaki","family":"Iwasa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Jichi Medical University 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