Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapy

Cogn Behav Neurol. 2014 Sep;27(3):155-9. doi: 10.1097/WNN.0000000000000037.

Abstract

A progressive encephalopathy of unknown etiology has been described in patients with primary immunodeficiency disorders. In this report, we characterize the clinical features of this progressive neurodegenerative dementing disorder in a young man with Bruton agammaglobulinemia, through neuropsychological tests and a video sequence. The clinical course of the encephalopathy seems rather uniform: Cognition, especially frontal lobe function, is affected in the early stages, and some patients develop movement disorders. The syndrome causes severe cognitive and physical disability, and can eventually be fatal. The autoimmunity results from dysregulated immune responses, but the underlying mechanism has not yet been fully explained.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / diagnosis*
  • Agammaglobulinemia / drug therapy
  • Agammaglobulinemia / pathology
  • Agammaglobulinemia / physiopathology
  • Agammaglobulinemia / psychology
  • Atrophy
  • Brain / pathology*
  • Child, Preschool
  • Cognition Disorders / etiology*
  • Cognition Disorders / genetics
  • Cognition Disorders / immunology
  • Diagnosis, Differential
  • Disease Progression
  • Frontal Lobe / pathology
  • Genetic Diseases, X-Linked / complications*
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / drug therapy
  • Genetic Diseases, X-Linked / pathology
  • Genetic Diseases, X-Linked / physiopathology
  • Genetic Diseases, X-Linked / psychology
  • Humans
  • Immunoglobulins, Intravenous / administration & dosage*
  • Immunoglobulins, Intravenous / adverse effects
  • Magnetic Resonance Imaging
  • Male
  • Movement Disorders / etiology*
  • Movement Disorders / genetics
  • Movement Disorders / immunology
  • Neurodegenerative Diseases / etiology
  • Neuropsychological Tests
  • Young Adult

Substances

  • Immunoglobulins, Intravenous

Supplementary concepts

  • Bruton type agammaglobulinemia