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Gürakan, Figen; Kaymaz, Figen; Koçak, Nurten; Örs, Ülken; Yüce, Aysel; Atakan, Nilgün

doi:10.1023/a:1026692301303

Cited by 17 publications

(4 citation statements)

References 12 publications

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“…The liver is clinically affected in 64% of CDS cases; however, steatohepatitis in liver biopsy specimens and elevated liver enzymes are reported all of the (100%) CDS patients with or without hepatomegaly [6,11]. Liver biopsy could not be performed in the presented patients, but transaminase levels were high, and hepatomegaly and hepatosteatosis were observed on physical examination and ultrasonographically, respectively.…”

Section: Discussionmentioning

confidence: 93%

“…Neutral lipid, in the form of triacylglycerol, accumulates in leukocytes, fibroblasts, the liver, muscle cells, and intestinal mucosa as non-membrane-enclosed cytoplasmic droplets [6]. These droplets can be observed in peripheral smears as vacuoles in granulocytes and monocytes, which is known as Jordan’s anomaly [6,7]. CGI-58 protein is located on the surface of cytoplasmic lipid droplets.…”

Section: Discussionmentioning

confidence: 99%

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Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Gençpınar¹,

Makay²,

Yüzbaşıoğlu³

et al. 2013

tjh

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Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear.Conflict of interest:None declared.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Gençpınar¹,

Makay²,

Yüzbaşıoğlu³

et al. 2013

tjh

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“…(6) Dorfman'ın tanımladığı hastalara benzer bulguları olan bir başka hastayı tanımlamış ve bu hastalarda intraselüler trigliserid metabolizmasındaki bozukluğa dikkat çekmişlerdir (7) . Hastalarda yapısal olarak mitokondrial yağ asidi oksidasyon defekti olduğu ve triaçilgliserolün fosfolipidlere dönüşüm yolunda bozukluk olduğu ileri sürülmüştür (8) . Eldeki veriler hücre içi trigliserid metabolizmasındaki bir anormalliği düşündürmektedir.…”

Section: Discussionunclassified

Anesthesia management in patient with Chanarin DorfmanSyndrome

Koç¹,

Eren²

2019

JARSS

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Biz bu olguda, Chanarin-Dorfman sendromu (CDS) tanısı olan mesane taşı nedeniyle opere edilecek bir hastada total intravenöz anestezi (TİVA) uygulamasını irdeledik. Yöntem: Hastada özofagus varis kanaması öyküsü mevcut idi. Ayrıca tetkiklerinde INR: 1.71 belirlendi. Hastanın rejyonal anesteziyi reddetmesiyle birlikte genel anestezi düşünüldü. İnhaler anestezik ajanların izole hepatotoksik etkileri nedeniyle olguda TİVA tercih edilmiştir. Bulgular: Hastada TİVA güvenle uygulanmış ameliyat sırasında komplikasyon görülmemiştir. Ameliyat sonrası bir aylık süreçte haftalık bakılan karaciğer testlerinde anlamlı değişiklik görülmemiştir. Sonuç: CDS gibi nadir görülen olgularda anestezi amacıyla TİVA uygulamasının güvenle kullanılabileceği düşüncesindeyiz.

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“…The case described here has congenital ichthyosis and hepatomegaly with moderately elevated transaminases and hepatosteatosis proven by ultrasound and liver biopsy. Muscle weakness, ataxia, neurosensory hearing loss, eye findings (subcapsular cataracts, nystagmus, and strabismus), microcephaly, cardiomyopathy, and mental retardation may also be present but the involvement of these other organs and systems is much more variable; for example, muscle involvement is demonstrated in 69%, developmental delay or mental retardation in 35%, and cataracts in 46% of the subjects with neutral lipid storage disease [10]. In this presented case, hepatosteatosis, mild mental retardation (not confirmed with IQ measurement), subcapsular cataract, mild ectropion, strabismus, and raised levels of serum muscle enzyme were present, which is very similar to another Turkish patient recently published by Durdu et al [16].…”

Section: Discussionmentioning

confidence: 99%

A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report

Ersoy

Alkım

Onuk

et al. 2011

International Journal of Hepatology

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Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis

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Untitled

Cited by 17 publications

References 12 publications

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Anesthesia management in patient with Chanarin DorfmanSyndrome

A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report

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