The clinical and paraclinical manifestations of tuberous sclerosis complex in children

• Published in: Acta neurologica Belgica Vol. 122; no. 2; pp. 385 - 390
• Main Authors: Barzegar, Mohammad, Poorshiri, Bita, Yousefi, Leila, Raeisi, Sina, Bakhtiary, Hassan, Eftekhari Milani, Amir, Ebadi, Zakiyeh
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.04.2022
• Subjects: Angiomyolipoma; Astrocytoma - complications; Biomedical and Life Sciences; Biomedicine; Child; Female; Hamartoma; Humans; Kidney Neoplasms; Male; Medicine/Public Health; Neurology; Neuroradiology; Neurosciences; Original Article; Seizures; Tuberous Sclerosis - complications; Clinical manifestations; Children; Tuberous sclerosis complex; Paraclinical manifestations
• ISSN: 0300-9009; 2240-2993
• DOI: 10.1007/s13760-021-01635-z

Tuberous sclerosis complex (TSC) is an autosomal-dominant, multi-system, neurocutaneous disorder characterized by hamartomas in multiple organs. This study aimed to evaluate the clinical and paraclinical manifestations of children with TSC. The clinical and paraclinical characteristics of 79 children with TSC were evaluated and the possible correlations between the factors were calculated. Among the studied children which composed of 41 females (51.9%) and 38 males (48.1%), skin manifestations as hypopigmented macules as well as the brain involvement as cortical tubers in all (100%) cases, seizure in 74 (93.7%), and sub-ependymal nodules in 73 (92.4%) patients were the most common findings. The renal angiomyolipoma was diagnosed in 36 (70.6%) out of 51 patients. Subependymal giant cell astrocytoma in 25 (3/54%) out of 46 patients, retinal hamartoma in 15 (42.9%) out of 35 patients, and cardiac rhabdomyoma in 17 (41.3%) out of 46 patients were diagnosed. Furthermore, 50 (63.3%) out of 79 patients had psychological disorders that had a significant correlation with the prevalence of seizures ( p  = 0.002). Given the multi-systemic involvement of TSC, it is necessary that all organs of the patients even without any related clinical symptom or sign be examined regularly for proper therapeutic intervention and prevent disease progression. The growth of hamartomas in the brain and kidneys can be life-threatening; therefore, these organs have more importance to be regularly followed up and examined.