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Mowat-Wilson Syndrome Presenting With Purpura Fulminans

Claudia G Nevarez Flores1, Alexander P Sun2, Howard Hast3

  • 1Department of Pediatrics, Children's Hospital of Wisconsin Fox Valley, Neenah, Wisconsin; cnevarezflores@chw.org.

Pediatrics
|December 22, 2018
PubMed

Insights

Purpura fulminans, a severe skin condition, can arise from infections like Streptococcus pneumoniae. This case highlights Mowat-Wilson syndrome with asplenia as a risk factor in children.

Area of Science:

  • Pediatric Infectious Diseases
  • Rare Genetic Syndromes
  • Hematology

Background:

  • Purpura fulminans is a critical condition characterized by thrombosis and skin necrosis, often linked to Neisseria meningitidis or Streptococcus pneumoniae sepsis.
  • Splenic dysfunction increases susceptibility to invasive pneumococcal infections in healthy children.

Observation:

  • A 10-month-old girl with developmental delay presented with severe infection and purpura fulminans.
  • The child was diagnosed with previously unrecognized Mowat-Wilson syndrome and anatomic asplenia.

Findings:

  • This case links Mowat-Wilson syndrome with anatomic asplenia to overwhelming Streptococcus pneumoniae infection and purpura fulminans.
  • Undiagnosed asplenia in children with Mowat-Wilson syndrome poses a significant risk for severe infections.

Implications:

  • Screening for asplenia in children with Mowat-Wilson syndrome is crucial for identifying those needing enhanced preventive care.
  • Early detection of asplenia can guide prophylactic strategies against invasive bacterial infections in this population.

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