Progressive Encephalopathy Associated with X-Linked Agammaglobulinemia

摘要

Bruton type agammaglobulinemia is an X-linked disease with humoral immunological deficiency. Children with congenital agammaglobulinemia develop bacterial infections easily. We describe a 15-year-old patient with infantile X-linked agammaglobulinemia who at the age of 8 years developed a progressive encephalopathy, characterized by rare generalized seizures, progressive intellectual deterioration, signs of cerebellar and pyramidal dysfunction and action myoclonus.