Neurological manifestations in Wiskott–Aldrich syndrome: a systematic review - Summary - MDSpire

Neurological manifestations in Wiskott–Aldrich syndrome: a systematic review

  • By

  • Nicholas Giulio Raccagni

  • Viktor Franco Milanesi

  • Giovanna Lucchini

  • Adriana Balduzzi

  • Giuseppe Occhino

  • Pietro Invernizzi

  • Serena Gasperini

  • May 7, 2026

  • 0 min

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Objective:

To systematically review and delineate neurological manifestations in individuals with confirmed Wiskott–Aldrich syndrome (WAS), emphasizing the significance of these manifestations for patient care.

Key Findings:
  • 26 studies involving 32 individuals were analyzed, predominantly pediatric (78.1%).
  • Median age at WAS diagnosis was 0.4 years; neurological manifestations appeared at a median of 3.0 years later, with statistical significance (p = 0.018).
  • Neurological manifestations included brain hemorrhagic (8), immune-mediated (6), infectious (6), and neoplastic (12) cases.
  • Case-fatality rates varied: 100% in infectious, 75% in neoplastic, 62.5% in hemorrhagic, and 0% in immune-mediated cases.
  • Higher mortality was observed in non-transplant patients (63.6%) compared to transplant patients (50.0%).
Interpretation:

Neurological manifestations in WAS show significant age-dependent variations and high case-fatality rates, particularly in infectious and neoplastic cases, highlighting the need for increased neurological awareness and documentation in clinical practice.

Limitations:
  • The review is based on case reports, limiting the ability to generalize findings and introducing potential biases.
  • Variability in the quality of included studies may affect the robustness of conclusions.
Conclusion:

The findings underscore the importance of recognizing and documenting neurological symptoms in WAS to improve patient outcomes and inform future research directions.

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