Sanjad-Sakati syndrome: integrated emergency care, long-term management, and expert perspectives-a narrative review.

BACKGROUND: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism, persistent hypocalcemia, growth retardation, and distinctive craniofacial dysmorphism. Despite its rarity, SSS is more prevalent in the Middle East due to high consanguinity rates. Its multisystem involvement-including endocrine, neurologic, respiratory, renal, dental, and immunologic systems-poses significant challenges in pediatric emergency care and long-term management.

OBJECTIVE: This review aims to provide a comprehensive, clinically focused overview and expert opinion on the emergency management, diagnostic evaluation, and acute and long-term treatment strategies for SSS, with an emphasis on high-risk manifestations such as hypocalcemic crises, airway instability, immune vulnerability, and difficult vascular access.

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. Early identification of biochemical abnormalities remains the cornerstone of diagnosis and timely stabilization. Long-term care requires lifelong calcium and vitamin D supplementation, regular metabolic monitoring, renal assessment, psychosocial support, and caregiver education.

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. Implementing standardized emergency protocols, family-directed action plans, and genetic counseling in high-risk populations can significantly enhance long-term prognosis for affected children.