This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Kim Keppler, MD; Christopher Cunniff, MD

Am J Dis Child. 1992;146(11):1349-1352.

Abstract
• Objective.
—To describe three patients with cytochrome c oxidase deficiency.

Design.
—Patient series.

Setting.
—Tertiary care children's hospital in Arkansas.

Participants.
—A sibling pair and an unrelated patient referred for evaluation and found to have cytochrome c oxidase deficiency.

Interventions.
—None.

Measurements/Main Results.
—Affected individuals had the characteristic presentation of psychomotor regression, growth deficiency, and lactic acidosis. The severity of the clinical course was found to correlate with the lactatepyruvate ratio. Two of the infants had evidence, on magnetic resonance imaging, of subacute necrotizing encephalomyelopathy (Leigh disease). The most severely affected child had an unusual presentation of prenatal onset of structural anomalies including glabellar prominence, abnormal hair, loose skin, inguinal hernias, and hypospadias.

Conclusions.
—The presentation and clinical course of cytochrome coxidase deficiency are highly variable and the diagnosis of cytochrome c oxidase deficiency should be considered in all patients with lactic acidosis or subacute necrotizing encephalomyelopathy. Particular consideration should be given to this diagnosis when lactic acidosis is found in a neonate with structural anomalies.

(AJDC. 1992;146:1349-1352)

Author Affiliations
From the Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, and Arkansas Children's Hospital, Little Rock.

Footnotes
Accepted for publication July 14, 1992.

Presented in part at the annual meeting of the Southern Society for Pediatric Research, New Orleans, La, January 31, 1992.

Reprint requests to Section of Genetics, Arkansas Children's Hospital, 800 Marshall St, Little Rock, AR 72202-3591 (Dr Cunniff).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Leigh Disease: Clinical, Neuroradiologic, and Biochemical Study of Three New Cases With Cytochrome c Oxidase Deficiency
Savasta et al.
J Child Neurol 2001;16:608-613.
ABSTRACT