Leukocyte adhesion deficiency mimicking Hirschsprung disease.
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.
D018845:CD11 Antigens / Q000097:blood; D018821:CD18 Antigens / Q000097:blood; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male
D018845:CD11 Antigens; D018821:CD18 Antigens