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Multiple cerebral abscesses in Papillon-Lefèvre syndrome
Hari Krishnan Kanthimathinathan1, Fiona Browne, Roberto Ramirez
1Paediatric Intensive Care Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK. dr.h.krishnan@gmail.com
Summary
Papillon-Lefèvre syndrome, a rare genetic disorder, can lead to severe complications like brain abscesses in children. Early recognition of associated diagnoses is crucial for critically ill patients.
Area of Science:
- Genetics
- Neurology
- Dermatology
Background:
- Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder.
- Characterized by palmoplantar hyperkeratosis, periodontitis, and recurrent pyogenic infections.
Observation:
- A pediatric case of Papillon-Lefèvre syndrome presenting with a brain abscess is described.
- This represents the first documented instance of brain abscess in a child with PLS.
Findings:
- The patient with Papillon-Lefèvre syndrome developed a brain abscess, a rare but serious complication.
- Cerebral abscess formation highlights the potential for severe systemic involvement in PLS.
Implications:
- Emphasizes the need for comprehensive diagnostic evaluation in critically ill children with rare syndromes.
- Clinicians should consider even rare, seemingly unrelated diagnoses in the management of complex pediatric cases.
- Early identification and management of complications in Papillon-Lefèvre syndrome can improve patient outcomes.
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