𝐓𝐇𝐄 𝐍𝐄𝐔𝐑𝐎𝐋𝐎𝐆𝐘

Multiple Choice Questions in Neurology: What are the triads of Tuberous sclerosis? Seizure Focal cortical atrophy Mental retardation Adenoma sebaceum Port wine nevus Tuberous Sclerosis Tuberous sclerosis is also known as Bourneville disease Inheritance Autosomal dominant inheritance Tuberous sclerosis 1 (TSC1): HAMARTIN (chromosome 9q32-34) Tuberous sclerosis 2 (TSC2): TUBERIN (chromosome 16p13.3): Most common Clinical Features Childhood onset Multiple Ectodermal Benign Tumours Skin: sebaceous glands Eyes: retina Nervous system: brain, spinal cord Mental retardation, learning difficulty, attention deficit hyperactivity disorder (ADHD) are common. Multiple hamartomas Brain histopathology shows disorganized cortical lamination with indistinct gray and white matter junction. Cardiac rhabdomyomas are multiple hamartomas that usually regress over time. Cardiac rhabdomyoma (benign tumors) may present in 50% of patients. The incidence in the newborn may be as high as 90% and in adults as low