• Saudi Med J · Nov 2024

    Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.

    • Munira Aden, Mahmoud O Fawzi, Debra Prosser, Muhammad Ather, Mehak Raja, Moegamad A Ederies, Khalid Al-Kharazi, and Ata U Maaz.
    • From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
    • Saudi Med J. 2024 Nov 1; 45 (11): 124512521245-1252.

    ObjectivesTo review the clinical and radiological correlation of the central nervous system manifestations of tuberous sclerosis complex (TSC).MethodsAll patients under the age of 18 years with TSC seen at the Department of Pediatrics, Sidra Medicine, Doha, Qatar, between January 2003 and February 2021 were included in this retrospective study. Severity of epilepsy was determined using the early childhood epilepsy severity score (E-CHESS) tool.ResultsThe study sample included 38 patients (50% male), 8 (21%) of whom were native to Qatar. The median age at diagnosis was 4 (range: 0-72) months. A family history of TSC was present in 10 (26%) cases, while 33 (86%) patients had a TSC2 gene mutation. Common presentations included seizures (79%), rhabdomyoma (26%), and developmental delay (13%). On MRI scans, cortical tubers were seen in all patients, subependymal nodules in 37 (97%), and subependymal giant cell astrocytoma was diagnosed in 8 (21%) cases. A total of 30 children developed epilepsy, 9 of whom had favorable and 21 had unfavorable E-CHESS scores, and 6 required pharmaceutical management. A total of 13 children were diagnosed with autistic spectrum disorder and 12 with attention deficit hyperactivity disorder.ConclusionMultidisciplinary management and further research is needed to optimize the care and quality of life of TSC affected individuals and their families.Copyright: © Saudi Medical Journal.

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