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Article

From blood smear to lipid disorder: a case report.

Journal of pediatric hematology/oncology - 1 Nov 2013

Elitzur Sarah, Yacobovich Joanne, Dgany Orly, Krasnov Tatyana, Rosenbach Yoram, Tamary Hannah

Abstract excerpt

Neutral lipid storage disease (Chanarin-Dorfman syndrome) is a rare autosomal recessive disorder of lipid metabolism, characterized by systemic accumulation of neutral lipids in multiple tissues. We report a case of a 14-year-old girl with generalized ichthyosis, liver cirrhosis, and a hearing impairment. A peripheral blood smear demonstrated marked cytoplasmatic vacuoles in most polymorphonuclear cells (Jordan's...

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PMID: 23042024
DOI: 10.1097/MPH.0b013e318271c915

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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