Dyskeratosis congenita and a rare brain abscess

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Juan Bautista Blaquier1, Juan Ignacio Castiglione2, Ricardo Delorme1

  • 1Departamento de Medicina Interna, FLENI, Buenos Aires, Argentina.

Medicina
|October 11, 2021
PubMed

Insights

Dyskeratosis congenita, a rare inherited disorder, can lead to severe infections. This case highlights a rare central nervous system infection in a patient with this underlying condition.

Area of Science:

  • Neurology
  • Infectious Diseases
  • Genetics

Background:

  • Dyskeratosis congenita is a rare inherited disorder characterized by mucocutaneous findings and bone marrow failure.
  • Patients with dyskeratosis congenita have an increased risk of infections and neoplasia due to immune compromise.
  • Actinomyces spp. are common oral flora, typically causing invasive infections in immunocompromised individuals.

Observation:

  • A rare case of central nervous system infection was identified.
  • The infection occurred in a patient with an underlying inheritable disease.

Findings:

  • The central nervous system infection was attributed to Actinomyces spp.
  • This case represents a rare manifestation of invasive infection in the context of dyskeratosis congenita.

Implications:

  • This case underscores the importance of considering rare infections in patients with dyskeratosis congenita.
  • Early diagnosis and management of central nervous system infections are crucial for improving outcomes in patients with underlying genetic disorders.
  • Further research into the spectrum of opportunistic infections in dyskeratosis congenita is warranted.
Keywords:
X-linked inheritancebrain abscessdyskeratosis congenita

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