To provide a comprehensive, clinically focused overview and expert opinion on the emergency management, diagnostic evaluation, and acute and long-term treatment strategies for Sanjad–Sakati syndrome (SSS).
Approach:
Emergency Management: Focus on urgent calcium correction and airway stabilization due to high-risk manifestations such as hypocalcemic crises.
Long-term Care: Emphasizes lifelong calcium and vitamin D supplementation, regular metabolic monitoring, renal assessment, psychosocial support, and caregiver education.
Key Findings:
Children with SSS often present with hypocalcemia, seizures, tetany, apnea, or laryngospasm, necessitating urgent calcium correction and airway stabilization.
Microtubule dysfunction due to tubulin-specific chaperone E gene mutations contributes to endocrine and structural abnormalities, leading to neurodevelopmental impairment, sleep-disordered breathing, nephrocalcinosis, dental anomalies, and heightened susceptibility to infections associated with immune deficiency.
Emergency care is complicated by abnormal airway anatomy, challenging intravenous access, susceptibility to sepsis, and metabolic instability.
Interpretation:
Early identification of biochemical abnormalities is crucial for diagnosis and stabilization. Clinical vigilance is necessary due to the potential for life-threatening events.
Limitations:
Global burden of SSS is indeterminate due to case scarcity, misdiagnosis, and underreporting.
High rates of consanguinity in certain populations may skew prevalence data.
Conclusion:
SSS demands clinical vigilance due to its multisystem involvement and potential for life-threatening metabolic and respiratory events. Early biochemical correction, cautious airway management, infection prevention, and coordinated multidisciplinary follow-up are critical to improving outcomes and reducing morbidity and mortality.
