التفاصيل البيبلوغرافية
| العنوان: |
Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease. |
| المؤلفون: |
Durmazer, Esra, Demir, Meryem, Onay, Huseyin, Gunsar, Fulya |
| المصدر: |
Journal of Clinical Lipidology; Jan2024, Vol. 18 Issue 1, pe125-e128, 4p |
| مصطلحات موضوعية: |
DORFMAN-Chanarin syndrome, MALOCCLUSION, FATTY liver, CIRRHOSIS of the liver, NEUTROPHILS, STYE, ICHTHYOSIS, DEAFNESS, GENETIC mutation, LIVER transplantation, SEQUENCE analysis |
| مستخلص: |
• ABHD5 gene mutation causes Chanarin-Dorfman Syndrome (CDS). • Chanarin-Dorfman Syndrome should be suspected with ichthyosis and Jordan's anomaly. • Chanarin-Dorfman Syndrome is a lipid storage disease cause of fatty liver disease. • Parathyroid lipoadenoma and pancreas atrophy are newly defined in CDS. Chanarin-Dorfman Syndrome (CDS) is a rare lipid storage disease with ichthyosis, hepatomegaly, myopathy, neuropathy, deafness, and ocular findings. Here, we aim to present an elderly CDS case and highlight the new endocrinological findings. A 66-year-old male patient with cirrhosis was 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. [ABSTRACT FROM AUTHOR] |
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