RT Journal Article
SR Electronic
T1 Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 113
OP 121
DO 10.17712/nsj.2024.2.20230061
VO 29
IS 2
A1 Almuqbil, Mohammed
A1 Aldoohan, Waad
A1 Alhinti, Sara
A1 Almahmoud, Nora
A1 Abdulmajeed, Imad
A1 Alkhodair, Rayan
A1 Kashgari, Amna
A1 Baarmah, Duaa
A1 Altwaijri, Waleed
A1 Alrumayyan, Ahmad
YR 2024
UL http://nsj.org.sa/content/29/2/113.abstract
AB 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.