Cerebral cavernous malformation with secondary bacterial infection: illustrative case

Kantha Siddhanth Gujjari1, Ameen Farsakh1, Frederick P Mariajoseph1,2

  • 1Department of Neurosurgery, Monash Health, Clayton, Victoria, Australia.

Abstract

Insights

Secondary infection of cerebral cavernous malformations (CCMs) is rare. This case highlights Streptococcus pneumoniae infection in a pediatric patient with a KRIT1 mutation, emphasizing CCMs as dynamic lesions influenced by infection.

Area of Science:

  • Neuroscience
  • Vascular Biology
  • Infectious Diseases

Background:

  • Secondary infection of cerebral cavernous malformations (CCMs) is exceptionally rare.
  • Evidence suggests infections can influence CCM pathogenesis or complicate existing lesions.

Purpose of the Study:

  • To report the first documented case of a CCM secondarily infected by Streptococcus pneumoniae.
  • To explore the biological implications of infection in CCMs, particularly in the context of KRIT1 mutations.

Main Methods:

  • Case report of a 5-year-old boy with meningitis symptoms and a right frontal mass.
  • Surgical resection of the mass, revealing a cavernous malformation with abscess.
  • Microbiological cultures identifying Streptococcus pneumoniae and genetic testing revealing a KRIT1 mutation.

Main Results:

  • The patient presented with symptoms of meningitis and a brain mass.
  • Histopathology confirmed a cavernous malformation with superimposed abscess.
  • Streptococcus pneumoniae was identified as the causative agent of infection.
  • A pathogenic KRIT1 gene mutation was detected, alongside multiple CCMs.
  • The child achieved a full recovery with antibiotic treatment.

Conclusions:

  • This is the first reported case of a CCM infected by S. pneumoniae.
  • Highlights the need to consider infection in CCM patients with atypical presentations.
  • Suggests that KRIT1 mutations may impair endothelial integrity, predisposing CCMs to infection.
  • Supports the view of cavernomas as dynamic lesions influenced by genetic, immune, and infectious factors.

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