Home›Emergency Medicine› Sanjad–Sakati syndrome requires urgent calcium correction, airway stabilization, and lifelong vitamin D therapy
Sanjad–Sakati syndrome requires urgent calcium correction, airway stabilization, and lifelong vitamin D therapyManaging Emergency Care for Children with Sanjad-Sakati Syndrome
Frontiers in MedicinePublished July 20, 2026Study authors: Meshal AtiyahDOI ↗Editorial oversight: Dr. Lars van Dijk, PhD · Surgical, Procedural & Diagnostic
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Key Takeaway
Consider urgent calcium correction and lifelong vitamin D for Sanjad–Sakati syndrome, a rare cause of hypocalcemic crises.
This narrative review summarizes the clinical presentation, pathophysiology, and management of Sanjad–Sakati syndrome (SSS), a rare autosomal recessive disorder more prevalent in the Middle East due to high consanguinity rates. The authors describe that SSS typically presents in infancy with hypocalcemia, seizures, tetany, apnea, or laryngospasm. Pathophysiology involves microtubule dysfunction from tubulin-specific chaperone E gene mutations, leading to endocrine and structural abnormalities, neurodevelopmental impairment, sleep-disordered breathing, nephrocalcinosis, dental anomalies, and immune deficiency.
Management requires urgent calcium correction and airway stabilization, followed by lifelong calcium and vitamin D supplementation. Regular metabolic monitoring, renal assessment, psychosocial support, and caregiver education are essential. The review highlights challenges including hypocalcemic crises, airway instability, immune vulnerability, and difficult vascular access.
Limitations include the narrative review design, which may introduce selection bias and lacks systematic methodology. No pooled effect sizes or comparative data are provided. The authors note that early identification of biochemical abnormalities remains the cornerstone of diagnosis and timely stabilization.
Practice relevance: This review provides a clinical focus on emergency management, diagnostic evaluation, and long-term treatment for SSS, a condition that requires multidisciplinary care. However, recommendations are based on expert opinion rather than high-quality evidence.
How this fits prior evidence
This narrative review on Sanjad–Sakati syndrome extends prior coverage of vitamin D's role in various conditions by focusing on its essential use in hypoparathyroidism. Unlike prior items that examined vitamin D supplementation for diabetic kidney disease (low certainty) or allergic rhinitis (symptom management), this review addresses a congenital disorder where vitamin D is a cornerstone of lifelong therapy. It also contrasts with the shared molecular pathways linking endocrine disorders and periodontitis by highlighting a specific genetic syndrome with immune deficiency.
Sanjad-Sakati syndrome (SSS) is a rare condition that can cause serious medical problems in children. It involves issues like low calcium levels, seizures, and breathing difficulties. Because the condition affects several parts of the body, including the endocrine system and immune system, it requires careful and specialized medical attention.
Doctors focus on three main areas for these patients: emergency care, finding the cause, and long-term treatment. In emergencies, the priority is stabilizing the airway and quickly correcting low calcium levels. Long-term management involves lifelong supplements of calcium and vitamin D, along with regular monitoring of kidney health and metabolic status.
Because this information comes from a narrative review, it summarizes existing knowledge rather than testing a new drug or treatment. It serves as a guide for healthcare providers to ensure children receive consistent care. Parents and caregivers should work closely with their medical team to manage the specific needs of the child.
What this means for you:
Early identification and lifelong calcium and vitamin D support are key for managing Sanjad-Sakati syndrome.
Common questions
What are the main symptoms of Sanjad-Sakati syndrome?
Children with this condition may experience low calcium levels (hypocalcemia), seizures, tetany, and breathing problems like apnea or laryngospasm. The condition can also lead to issues with the immune system, kidney stones, and dental problems.
How is Sanjad-Sakati syndrome treated long-term?
Long-term management requires lifelong supplementation of calcium and vitamin D. Patients also need regular monitoring of their metabolism, kidney health, and psychological support to manage the condition effectively over time.
What is done during a medical emergency for these children?
In an emergency, doctors focus on stabilizing the airway and providing urgent correction of calcium levels. These steps are critical for managing immediate risks like breathing instability or severe low calcium.
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.
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.
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.
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.
