Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America

Sao Paulo Medical Journal

Rodrigo Vásquez-de Kartzow²  Cristian Jesam¹  Valentina Nehgme¹  Francisco Várgas¹  Carolina Sepúlveda¹ 

[1] ,Facultad de Medicina de la Universidad de Chile Department of Pediatrics Santiago,Chile

关键词: Child;    Immunologic deficiency syndromes;    Case report;    Cell adhesion molecules;    Leukocyte-adhesion deficiency syndrome;    Niño;    Síndromes de inmunodeficiencia;    Informes de casos;    Moléculas de adhesión celular;    Síndrome de deficiencia de adhesión del leucocito;   

DOI  :  10.1590/S1516-31802012000400011

来源: SciELO

【 摘 要 】

CONTEXT: Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis. CASE REPORT: The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several episodes of acute otitis media with non-purulent drainage of mucus and positive bacterial cultures is presented. His medical history included neonatal sepsis and delayed umbilical cord detachment. Laboratory studies showed marked leukocytosis with predominance of neutrophils and decreased CD11b and CD18. These were all compatible with a diagnosis of leukocyte adhesion deficiency type I [LAD type 1].

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