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Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report

Pinar Gencpinar1, Dilek Çavuşoğlu2, Ömer Özbeyler3

  • 1Department of Pediatric Neurology, Tepecik Training of Research Hospital, Izmir, Turkey. nodundar@gmail.com.

Archivos Argentinos De Pediatria
|May 11, 2016
PubMed

Insights

Panton-Valentine leukocidin (PVL) from Staphylococcus aureus caused severe necrotizing pneumonia and multiple abscesses in a healthy adolescent. This case highlights PVL-associated infections in young individuals.

Area of Science:

  • Infectious Diseases
  • Microbiology
  • Toxicology

Background:

  • Panton-Valentine leukocidin (PVL) is a key virulence factor produced by Staphylococcus aureus.
  • PVL contributes to severe soft tissue and necrotizing pneumonia, particularly in healthy adolescents.
  • Staphylococcus aureus infections can have high mortality rates.

Observation:

  • A 12-year-old male presented with fever, respiratory distress, and hip pain.
  • The patient was diagnosed with necrotizing pneumonia, septic pulmonary embolism, psoas abscess, cellulitis, and osteomyelitis.
  • PVL-positive methicillin-sensitive S. aureus (MSSA) was identified in the patient's blood culture.

Findings:

  • The case demonstrates a severe, multi-site infection caused by PVL-positive MSSA.
  • The patient experienced rapid progression of symptoms and complications.
  • The infection involved necrotizing pneumonia and extensive abscess formation.

Implications:

  • This case underscores the aggressive nature of PVL-producing S. aureus infections in adolescents.
  • Early recognition and aggressive management are crucial for improving outcomes.
  • Further research into PVL virulence mechanisms and therapeutic strategies is warranted.
Keywords:
AMT gene mutationHiccupsHypotoniaInfantSeizure

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