Management Approach for Sakati Syndrome
The management of Sakati syndrome requires a multidisciplinary approach tailored to address the specific manifestations of this rare genetic disorder, with particular focus on treating hypoparathyroidism, growth retardation, and preventing complications that affect morbidity and mortality.
Overview of Sakati Syndrome
- Sakati syndrome, also known as Sanjad-Sakati syndrome (SSS), is a rare autosomal recessive genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia, hyperphosphatemia, seizures, severe growth failure, mental retardation, dysmorphic features, and increased susceptibility to infections 1, 2
- The syndrome is primarily reported in children from Middle Eastern countries and is caused by a deletion in the tubulin-specific chaperone E (TBCE) gene at 1q42-43 1
- Distinct phenotypic features include retromicrognathia, abnormal dentition, and facial dysmorphism 3, 4
Key Management Components
1. Management of Hypoparathyroidism and Calcium Homeostasis
- Treat hypocalcemia with vitamin D supplementation to maintain normal serum calcium levels and prevent seizures and other complications 2
- Regular monitoring of serum calcium, phosphate, and parathyroid hormone levels is essential to adjust treatment regimens 1
- Careful management of electrolyte imbalances is crucial, particularly during acute illness or surgical procedures 3
2. Growth Management
- Growth hormone therapy should be considered to address severe growth retardation 2
- Regular assessment of growth parameters and adjustment of growth hormone dosage based on response 1
- Nutritional support to optimize growth potential and overall health 4
3. Neurological Management
- Anticonvulsant therapy for seizure control when present 2
- Developmental assessment and appropriate interventions for intellectual disability 1
- For patients who develop dystonic features (as seen in the related Woodhouse-Sakati syndrome), targeted movement disorder treatments may be necessary 5
4. Infection Prevention and Management
- Prophylactic measures to prevent infections due to increased susceptibility 3
- Prompt and aggressive treatment of infections when they occur 1
- Consideration of immunological assessment in cases of recurrent severe infections 2
5. Dental Management
- Comprehensive dental care with emphasis on preventive measures due to high caries susceptibility 4
- Consider full coverage restorations (stainless steel crowns) rather than conventional fillings due to high recurrence rate of caries 4
- Dental treatment under general anesthesia may be necessary due to intellectual disability and potential airway challenges 3, 4
6. Anesthesia Considerations
- Thorough pre-anesthetic assessment with particular attention to:
7. Genetic Counseling and Family Support
- Genetic counseling for families regarding the autosomal recessive inheritance pattern 1
- Parental education about the nature of the genetic disorder, nutritional needs, and dental health 4
- Psychosocial support for families managing children with complex medical needs 2
Special Considerations
- Regular multidisciplinary follow-up involving endocrinology, neurology, developmental pediatrics, dentistry, and other specialties as needed 1, 2
- Transition planning for adolescents moving to adult care services 2
- Individualized educational plans to address cognitive impairments 1
Monitoring and Follow-up
- Regular monitoring of calcium, phosphate, and other relevant laboratory parameters 1
- Growth assessment at each visit 2
- Developmental assessments to guide interventions 1
- Dental follow-up at more frequent intervals than typical patients due to high caries risk 4
While there are no specific guidelines for Sakati syndrome management, the approach should follow principles used in managing other genetic disorders with similar manifestations, with particular attention to preventing the complications that most significantly impact morbidity and mortality.