Leukocyte adhesion deficiency mimicking Hirschsprung disease

I R Rivera-Matos; R M Rakita; M M Mariscalco; F F Elder; S A Dreyer; T G Cleary

doi:10.1016/s0022-3476(95)70169-9

Leukocyte adhesion deficiency mimicking Hirschsprung disease

J Pediatr. 1995 Nov;127(5):755-7. doi: 10.1016/s0022-3476(95)70169-9.

Authors

I R Rivera-Matos¹, R M Rakita, M M Mariscalco, F F Elder, S A Dreyer, T G Cleary

Affiliation

¹ Department of Pediatrics, University of Texas Medical School at Houston 77030, USA.

PMID: 7472832
DOI: 10.1016/s0022-3476(95)70169-9

Abstract

An infant had clinical signs suggestive of Hirschsprung disease as the initial manifestation of leukocyte adhesion deficiency. Chromosome studies showed a deletion of the distal third of the long arm of one chromosome 21, and flow cytometric studies confirmed the defective expression of CD18.

Publication types

Case Reports
Review

MeSH terms

CD11 Antigens / blood
CD18 Antigens / blood
Chromosome Deletion
Chromosomes, Human, Pair 21
Diagnosis, Differential
Fatal Outcome
Hirschsprung Disease / diagnosis*
Hirschsprung Disease / genetics
Humans
Infant
Leukocyte-Adhesion Deficiency Syndrome / diagnosis*
Leukocyte-Adhesion Deficiency Syndrome / genetics
Male

Substances

CD11 Antigens
CD18 Antigens