Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease
Küçük Resim Yok
Tarih
2023
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Chanarin-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. © 2023
Açıklama
Anahtar Kelimeler
ABHD5 gene, Chanarin-Dorfman Syndrome, Fatty liver, Jordans anomaly, Lipid storage disease
Kaynak
Journal of Clinical Lipidology
WoS Q Değeri
Scopus Q Değeri
Q1
