Clinical and Radiological Assessment of Children with Tuberous Sclerosis

Background: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. Aim: To assess different presentations and different radiological findings of TSC in children. Patients and Methods: This retrospective and prospective cohort study was carried out on 20 children aged from 1 month to 16 years old, diagnosed as TSC according to the most recent diagnostic criteria, recruited from Outpatient Clinic of Pediatric Neuropsychiatry Unit, Al-Azhar University Hospital, Assiut, from 1st October 2023 till 30th May 2024. All studied patients were subjected to; complete history taking, general, systemic examination, complete neurological examination and complete ophthalmological examination includes slit lamp and fundus examinations. Complete dermatological examination of lesions were examined. laboratory investigations and Radiological investigations: Computerized tomography (CT) brain, Magnetic resonance imaging (MRI), Stanford Binet Intelligence Scale Fourth Edition (SB4), ADHD test according to Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM-IV) criteria, Childhood Autism Rating Scale (CARS), Abdominal ultrasonography and Echocardiography were performed to all patients . Results: Autistic spectrum disorder was present in 4 (20%) patients. Attention deficit hyperactivity disorder (ADHD) was present in 6 (30%) patients. Seizures were present in 15 (75%) patients. Type of seizures was partial in 10 (66.7%) patients, generalized in 5 (33.3%) patients. Regarding CT brain, subependymal calcification was present in 11 (55%) patients and small focal areas of hypodensity at parietal region was present in 1 (5%) patient. Regarding magnetic resonance imaging (MRI) brain, MRI brain, cortical tubercle was present in 1 (5%) patient. Regarding electroencephalogram, focal lesions were present in 11(73.3%) patients, generalized in 4(26.6%) patients. Abdominal US was normal in 18 (90%) patients while multiple renal cysts were present in 2 (10%) patients. Echo was normal in all patients. Conclusions: Different presentations and different radiological findings of TSC can help in early diagnosis and prognosis of TSC.