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.
Novo Nordisk’s Parkinson’s cell therapy finds a new home at Cellular Intelligence, while base editing, prime editing, and large-insertion genome writing push forward