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A fatal yet salvageable inborn error – leukocyte adhesion deficiency

Journal of Pediatrics & Neonatal Care
Pragya Singh,1 Aishwarya Kawalkar,2 Praveen Jhanwar3


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


delayed cord detachment, flow cytometry, leukocyte adhesion deficiency, leukocytosis, non-healing ulcers