Neutral lipid storage disease co-existing with ichthyosiform dermatosis

Dursun, Ali; Kubar, Ayhan; Gököz, Aytaç; Duru, Feride; Gürgey, Aytemiz

doi:10.1007/bf01958994

Cited by 5 publications

(2 citation statements)

References 6 publications

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“…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%

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: 99%

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

Gençpınar¹,

Makay²,

Yüzbaşıoğlu³

et al. 2013

tjh

View full text Add to dashboard Cite

show abstract

“…In 15 additional patients who lack ichthyosis, the diagnosis is less certain. Clinical manifestations of NLSD include fatty liver, ataxia, mental retardation, neurosensory hearing loss, vacuolated eosinophils, myopathy, cardiomyopathy, and cataracts (1‐20). Many patients have been the products of consanguineous unions.…”

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confidence: 99%