• Sao Paulo Med J · Jan 2012

    Review Case Reports

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

    • Rodrigo Vásquez-De Kartzow, Cristian Jesam, Valentina Nehgme, Francisco Várgas, and Carolina Sepúlveda.
    • Department of Pediatrics, Campus Centro, Facultad de Medicina de la Universidad de Chile, Santiago, Chile. rvasquezk@gmail.com
    • Sao Paulo Med J. 2012 Jan 1; 130 (4): 263266263-6.

    ContextAdhesion 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 ReportThe 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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