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Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience
Mohammed Almuqbil1, Waad Aldoohan1, Sara Alhinti1
1From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Objectives:
To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease.
Methods:
A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures.
Results:
The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients.
Conclusion:
The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.
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