Autoimmune lymphoproliferative syndrome with neonatal onset

Area of Science:

• Pediatric Immunology
• Hematology
• Genetics

Background:

• Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by the abnormal accumulation of lymphocytes.
• It typically presents with chronic lymphadenopathy, splenomegaly, hepatomegaly, and hypergammaglobulinemia.

Observation:

• This report details two cases of ALPS presenting in the neonatal period, an unusual age of onset.
• Case 1: A neonate with respiratory distress, hepatomegaly, and persistent lymphocytosis, initially unresponsive to antibiotics but showing prompt improvement with steroids.
• Case 2: A neonate with anemia, thrombocytopenia, lymphadenopathy, and hepatosplenomegaly, diagnosed later due to delayed suspicion.

Findings:

• Diagnostic workup included complete blood counts, chest X-rays, bone marrow examination, flow cytometry, radiological studies, and histopathology.
• Flow cytometry was key in establishing the ALPS diagnosis in both cases.
• Both cases highlight the challenges in diagnosing ALPS in neonates due to its rarity and non-specific initial symptoms.

Implications:

• The study emphasizes the importance of considering ALPS in neonates presenting with unexplained lymphoproliferation and autoimmune features.
• Early suspicion and prompt diagnosis, potentially aided by flow cytometry, can lead to timely intervention and improved outcomes.
• This case series underscores the need for increased awareness of ALPS in neonatal medicine.