Familial systemic lupus erythematosus and congenital infection-like syndrome

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.