Neonatal familial Evans syndrome associated with joint hypermobility and mitral valve regurgitation in three siblings in a Saudi Arab family.
The occurrence of autoimmune hemolytic anemia and immune thrombocytopenia in the absence of a known underlying cause led to the diagnosis of Evans syndrome in a 9-month-old male. Subsequently, a similar diagnosis was made in two siblings (a 3-year-old boy and a 1-day-old girl). The 9-month-old had a chronic course with exacerbations. He was treated with steroids, intravenous immunoglobulin and colchicine with a variable response. He died of congestive heart failure at the age of 8 years. The brotherâs disease course was one of remission and exacerbation. With time, remissions were prolonged and paralleled an improvement in joint hypermobility. The sister died of sepsis after a chronic course with severe exacerbations. Only two families with Evans syndrome have been reported in the English medical literature. In one report (in a Saudi Arab family), the disease was associated with hereditary spastic paraplegia.
Ahmed
Fathelrahman E
FE
Department of Pediatrics, North West Armed Forces Hospital, Tabuk, Saudi Arabia. fatahmed@hotmail.com
Albakrah
Mohameed S
MS
D000745:Anemia, Hemolytic, Congenital / Q000150:complications* / Q000175:diagnosis; D002675:Child, Preschool; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007593:Joint Instability / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D008297:Male; D008944:Mitral Valve Insufficiency / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D012529:Saudi Arabia; D035781:Siblings; D013577:Syndrome