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Victor Ionasescu, MD; Lewis Stegink, PhD; Shirley Mueller, MD; Mary Weinstein, MD

Arch Neurol. 1973;28(3):197-199.

Abstract
A 14-year-old boy of normal intelligence had characteristics of the Sjögren-Larsson syndrome: congenital ichthyosiform erythroderma, spastic paraparesis, macular degeneration, speech defects, hypertelorism, tooth anomalies, dermatoglyphic anomalies, and autosomal recessive inheritance. Amino acid analysis by column chromatography showed increased glutamine levels in plasma, erythrocytes, spinal fluid, and urine. In the spinal fluid, serine, valine, isoleucine, leucine, lysine, and ethanol amine were increased. Urinary excretion of serine, glycine, lysine, and histidine was increased.

Author Affiliations
Iowa City

From the Department of Pediatrics, College of Medicine, University of Iowa, Iowa City.

Footnotes
Accepted for publication Oct 5, 1972.

Reprint requests to Department of Pediatrics, University Hospitals, Iowa City 52240 (Dr. Ionasescu).

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