To report a case of GLUT1 deficiency syndrome (GLUT1DS) with atypical hematologic and hepatobiliary complications, thereby enhancing the understanding of the disorder's diverse phenotypic spectrum and clinical implications.
Key Findings:
The patient exhibited recurrent hemolysis and hepatobiliary complications linked to GLUT1DS, highlighting the need for comprehensive care.
Erythrocyte membrane instability was identified as a contributing factor to the patient's complications.
The case underscores the importance of multidisciplinary surveillance beyond neurological care to address systemic manifestations.
Interpretation:
This case illustrates the potential for atypical systemic manifestations of GLUT1DS, emphasizing the importance of recognizing and managing non-neurological complications to improve patient outcomes.
Limitations:
The study is based on a single case, limiting generalizability.
Long-term outcomes and optimal management strategies for atypical manifestations remain unclear, and further research is needed.
Conclusion:
The findings expand the phenotypic spectrum of GLUT1DS, suggesting that erythrocyte membrane integrity assessment may aid in recognizing systemic complications.
