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Familial systemic lupus erythematosus and congenital infection-like syndrome
R C Dale1, S P Tang, J Z Heckmatt
1Department of Paediatrics, Watford General Hospital, Hertfordshire, UK.
Insights
This study describes two brothers with congenital encephalopathy and systemic lupus erythematosus (SLE). Early diagnosis of SLE is crucial in infants with infection-like syndromes and neurological complications.
Area of Science:
- Pediatric Neurology
- Autoimmune Diseases
- Genetics
Background:
- Congenital encephalopathy with intracranial calcification has diverse etiologies.
- Systemic lupus erythematosus (SLE) is a chronic autoimmune disease.
- Early-onset autoimmune disorders can present with severe systemic manifestations.
Observation:
- Two siblings presented with neonatal encephalopathy, intracranial calcification, intrauterine growth retardation, hepatitis, and thrombocytopenia, mimicking congenital infections.
- Both developed hypocomplementemia and SLE within the first year, characterized by a lupus-like rash and high autoantibody levels.
- The children experienced severe developmental handicaps and succumbed to infections in early childhood.
Findings:
- The clinical presentation suggests a genetic predisposition to autoimmune disease manifesting as congenital encephalopathy.
- The rapid development of SLE highlights the link between autoimmune processes and neurological dysfunction in early life.
- Intracranial calcification and encephalopathy can be early signs of systemic autoimmune disorders.
Implications:
- Investigating complement levels and autoantibody profiles is vital for diagnosing congenital infection-like syndromes with neurological and dermatological features.
- This case series underscores the importance of considering autoimmune etiologies in severe neonatal encephalopathies.
- Early identification and management of SLE in infants may improve outcomes and prevent severe neurological damage.
Abstract:
We present two siblings with congenital and progressive encephalopathy associated with systemic lupus erythematosus. The two brothers presented soon after birth with an encephalopathy associated with intracranial calcification (=2), intrauterine growth retardation (= 2), hepatitis (= 1) and thrombocytopenia (= 1), mimicking a congenital virus infection. Within the first year of life both children developed hypocomplementaemia and systemic lupus erythematosus (SLE), the main features of which were a discoid lupus-like rash on the hands and feet and the progressive production of high levels of autoantibodies. Both children were severely handicapped and died in early childhood from streptococcal infections. There are many causes of congenital encephalopathy with intracranial calcification. The early development of systemic lupus in these children suggested that their cerebral disease formed part of an autoimmune process. Complement levels and autoantibody profiles should be considered part of the investigation of a child with congenital infection-like syndrome, particularly when there are progressive dermatological complications.