Challenges in diagnosing leukocyte adhesion deficiency in Syria: A case report

Abstract

Introduction

Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by improper primary immune response due to absent or decreased adhesion molecules, leading to impaired neutrophil migration into surrounding tissues. LAD is divided into four subtypes: LAD-I, LAD-II, LAD-III, and LAD-IV, based on the underlying mutations. Clinical presentation typically includes recurrent infections and neutrophilia, and it is confirmed through flow cytometry and genetic testing. However, these diagnostic methods may not be available during wartime. Here, we present a case of LAD in a Syrian infant.

Case presentation

A 2-month-old infant born to consanguineous parents presented with recurrent skin lesions in the groin and axillary region, accompanied by fever, night sweats, anorexia, and milky vomits twice a day. Clinical examination revealed a 3×4 cm umbilical hernia, multiple ulcerated skin lesions with a base of yellow necrotic tissue in the groin, and a 2.5 cm ulcer in the axilla. The laboratory tests confirm the presence of neutrophilia (WBC: 64.07 ×10⁹/L; Neutrophils: 79 %), raising suspicion for LAD. However, confirmation through flow cytometry and genetic testing was not possible due to unavailability. Antibiotics were administered, but the patient was discharged against medical advice.

Conclusion

The scarcity of documented LAD cases from Syria, coupled with the lack of resources to confirm the diagnoses of LAD using flow cytometry, highlights the need for a structured approach to such cases based on clinical presentation and available laboratory findings. This approach is crucial for ensuring timely diagnosis and appropriate management, especially in resource-constrained settings affected by conflict.