TUBEROUS SCLEROSIS COMPLEX: A CASE OF RESISTANT SEIZURES

ABSTRACT
Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by genetic mutations at two loci i.e TSC1
on chromosome 9, and TSC2 on chromosome 16. Hamartomas in multiples systems is the hallmark of the disease.
The three most striking features of the disease are learning disability, epilepsy, and skin lesions but there is a wide array
of clinical manifestations in multiple systems apart from these. Skin changes include hypopigmented macules(ash
leaf spots) in early childhood, yellowish pink papules in mid face known as adenoma sebaceum (AS) in adolescence,
periungual and subungual fibromas, and connective tissue naevi(shagreen patch) on the lower back. Enamel pits,
gingival hyperplasia, renal cysts, cerebral gliomas, calcified basal ganglia, lymphangioleiomyomatosis of lung, retinal
phakomas and heart tumors are some of the other features. Here, we now present a case of 20 year old female with
tuberous sclerosis having characteristic clinical and radiological features.
Key Words: Tuberous sclerosis complex (TSC), Adenoma sebaceum (AS), Hamartoma