Case Reports
Case series on tuberous sclerosis | |
Dr. Alpa Rathi, Dr. Jaisurya D | |
Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion caused by mutations on either of two genes TSC1 and TSC2 encoding hamartin and tuberin respectively. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here we present a case series of patients with tuberous sclerosis highlighting the clinical features, diagnostic challenges and management strategies. Here, we identified 3 patients aged 3, 5 and 14 years in our tertiary care center .The most common clinical features were seizure, skin lesions and subnormal intelligence. Imaging studies revealed cortical tubers and sub ependymal nodules. TS is a complex disorder requiring multidisciplinary care. Our case series highlights the importance of early recognition genetic counseling and individualized management to reduce morbidity and improve patient outcome. |
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