A fatal yet salvageable inborn error – leukocyte adhesion deficiency

Leukocyte adhesion deficiency (LAD) Type 1 is a rare inborn error in infants characterized by delayed umbilical cord detachment, non-healing ulcers, and leukocytosis. Initially, knowledge of LAD was limited to the impairment granulocyte function due scarcity cases. However, as more cases are being reported, bio-physiology white blood cells, platelets, various intercellular reactivity signaling provides new perception this disease. We present 17-day-old female child who presented with complaints fever redness perianal region popliteal fossa. Investigations showed leukocytosis cerebrospinal fluid (CSF), raised C-Reactive Protein (CRP), Pseudomonas-positive CSF culture. Flow cytometry revealed absence CD18, CD11a, CD11c. Aggressive antimicrobial agents were started; however, baby died on day 30 life. In report, we emphasize essential investigations needed for early diagnosis effective precautions through which can decrease fatality rate disorder.