title: Autoimmune lymphoproliferative syndrome with neonatal onset.
abstract: We describe 2 cases of autoimmune lymphoproliferative syndrome (ALPS), which is a rare disorder of auto-immunity, chronic persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly and hyper gamma globulinemia (1gG, 1gA). Both cases presented in neonatal period which is a rare age of presentation in this disease. A 20 days old female neonate presented with respiratory symptoms which rapidly progressed needing ventilatory support. There was hepatomegaly and no auscultatory findings in the chest. Serial CBCs (complete blood counts) showed persistent leucocytosis with predominant lymphocytosis. Her chest X-ray showed left sided consolidation which responded poorly to antibiotics. Her prompt clinical response to steroids raised the suspicion of autoimmunity and the diagnosis was established after a negative bone marrow examination for leukemia and a positive result for ALPS on flow cytometry. The second case presented with anemia, thrombocytopenia starting in neonatal period followed by persistent lymphadenopathy, hepatosplenomegaly and recurrent infections which responded poorly to antibiotics. Diagnosis was delayed due to low index of suspicion, and finally achieved with multiple radiological studies, histopathology and flow cytometry.
authors.affiliation: Department of Pediatrics Medicine, Fatima Memorial Hospital, Lahore.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Naveed
authors.affiliation: Department of Pediatrics Medicine, Fatima Memorial Hospital, Lahore.
authors.forename: Umar Bin
authors.initials: UB
authors.lastname: Khamis Butt
authors.affiliation: Department of Pediatrics Medicine, Fatima Memorial Hospital, Lahore.
authors.forename: Jovaria
authors.initials: J
authors.lastname: Mannan
mesh_terms: D000015:Abnormalities, Multiple; D056735:Autoimmune Lymphoproliferative Syndrome / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006529:Hepatomegaly / Q000151:congenital / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013163:Splenomegaly / Q000151:congenital / Q000473:pathology / Q000601:surgery; D013601:T-Lymphocytes / Q000378:metabolism / Q000473:pathology; D013921:Thrombocytopenia / Q000151:congenital / Q000473:pathology; D016896:Treatment Outcome