Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease

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dc.authorscopusid58690546400
dc.authorscopusid57208208300
dc.authorscopusid8929131500
dc.authorscopusid6603728919
dc.contributor.authorDurmazer, E.
dc.contributor.authorDemir, M.
dc.contributor.authorOnay, H.
dc.contributor.authorGunsar, F.
dc.date.accessioned2024-08-25T18:48:04Z
dc.date.available2024-08-25T18:48:04Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractChanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myopathy, neuropathy, deafness, and ocular findings. Here, we aim to present a elderly CDS case with highlightening the new endocrinological findings. A 66-year-old male patient with cirrhosis hospitalized for liver transplantation. We suspected Chanarin-Dorfman Syndrome with ichthyosis, fatty liver, and syndromic facial features with bilateral ectropion, deafness, and malocclusion. We showed the lipid droplets in neutrophils called patognomonic Jordans’ anomaly. Homozygous c.47+1 G>A mutation in the ABHD5 (NM_016006.6) gene were detected by clinical exome sequencing. Out of <160 CDS cases in the literature, this is the second eldest CDS patient and first with adrenal insufficiency, parathyroid lipoadenoma and atrophic pancreas. Clinicians should be aware of CDS as a rare cause of fatty liver. We recommend a blood smear and genetic analyses in patients with severe ichtiosis, ectropion, deafness and multiple endocrinolgic disorders. © 2023en_US
dc.identifier.doi10.1016/j.jacl.2023.10.003
dc.identifier.issn1933-2874
dc.identifier.scopus2-s2.0-85176431062en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1016/j.jacl.2023.10.003
dc.identifier.urihttps://hdl.handle.net/11454/102131
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherElsevier Ltden_US
dc.relation.ispartofJournal of Clinical Lipidologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240825_Gen_US
dc.subjectABHD5 geneen_US
dc.subjectChanarin-Dorfman Syndromeen_US
dc.subjectFatty liveren_US
dc.subjectJordans anomalyen_US
dc.subjectLipid storage diseaseen_US
dc.titleChanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage diseaseen_US
dc.typeArticleen_US

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