Contributed by Valerie A. Lyons, M.D. and Paul S. Dickman, M.D.
Published on line in February 1998
This 24-day-old term infant had an uncomplicated prenatal history and developed failure to thrive and seizures. He received 60cc of unirradiated packed red blood cells for anemia of unknown etiology and prophylactic antibiotic therapy for possible sepsis as evidenced by seizures. Following transfusion therapy, a chest x-ray and echocardiogram revealed an enlarged heart and truncus arteriosus with a large ventricular septal defect.
The infant was admitted to Children's Hospital of Pittsburgh (CHP) in congestive heart failure. On physical exam the infant appeared normal. Seizure activity remitted with calcium supplementation.
The infant developed an erythematous papular rash, predominantly on the face, trunk and upper extremities. Skin biopsy revealed histologic features suggestive of a drug rash, with mild eosinophilia in the papillary dermis and vascular channels.
Fluorescent in situ hybridization of the buccal mucosa found a 22q11 deletion, confirming the diagnosis of DiGeorge syndrome. The infant received broad spectrum antibiotics and antifungal therapy for possible sepsis. A tracheal aspirate grew E. cloacae and a urine culture grew Candida species. All other cultures failed to identify organisms.
Over the course of the next several days, the infant developed pancytopenia for which he was transfusion dependent. He developed multiorgan failure with disseminated intravascular coagulation. Transfusion related graft versus host disease was suspected. Despite steroid and intravascular gammaglobulin therapy, the infant rapidly deteriorated to his demise.