Ichthyosis and neutral lipid storage disease.

Abstract

Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.

• Authors: M L Williams, T K Koch, J J O'Donnell, P H Frost, L B Epstein, W S Grizzard, C J Epstein
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 20 Issue 4 Pg. 711-26 (Apr 1985) ISSN: 0148-7299 [Print] United States
• PMID: 3993689 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)

Topics

• Adolescent
• Cataract (genetics)
• Child
• Consanguinity
• Deafness (genetics)
• Female
• Genes, Recessive
• Genetic Carrier Screening
• Humans
• Ichthyosis (genetics)
• Leukocytes (ultrastructure)
• Lipid Metabolism, Inborn Errors (genetics)
• Male
• Middle Aged
• Muscular Diseases (genetics)
• Pedigree
• Syndrome
• Vacuoles (ultrastructure)