Familial systemic lupus erythematosus and congenital infection-like syndrome

We present two siblings with congenital and progressive encephalopathy asso ciated with systemic lupus erythematosus. The two brothers presented soon a fter birth with an encephalopathy associated with intracranial calcificatio n (= 2), intrauterine growth retardation (= 2), hepatitis (= 1)and thromboc ytopenia (= 1), mimicking a congenital virus infection. Within the first ye ar of life both children developed hypocomplementaemia and systemic lupus e rythematosus (SLE), the main features of which were a discoid lupus-like ra sh on the hands and feet and the progressive production of high levels of a utoantibodies. Both children were severely handicapped and died in early ch ildhood from streptococcal infections. There are many causes of congenital encephalopathy with intracranial calcif ication. The early development of systemic lupus in these children suggeste d that their cerebral disease formed part of an autoimmune process. Complem ent levels and autoantibody profiles should be considered part of the inves tigation of a child with congenital infection-like syndrome, particularly w hen there are progressive dermatological complications.