Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease.
J Clin Lipidol
; 18(1): e125-e128, 2024.
Article
en En
| MEDLINE
| ID: mdl-37968200
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Eritrodermia Ictiosiforme Congénita
/
Trasplante de Hígado
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Sordera
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Ectropión
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Hígado Graso
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Ictiosis
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Errores Innatos del Metabolismo Lipídico
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Enfermedades Musculares
Límite:
Aged
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Humans
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Male
Idioma:
En
Revista:
J Clin Lipidol
Asunto de la revista:
BIOQUIMICA
/
METABOLISMO
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Estados Unidos