Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with high penetrance and extensive clinical variability that affects multiple organ systems: the skin, brain, kidneys and heart. It is characterized by a variety of dermatological symptoms like angiofibromas, periungual fibromas, shagreen patch, and leaf macules, as well as neurological manifestations such as seizures, mental retardation and behavioral disorders. A typical clinical triad comprising epilepsy, intellectual disability, and adenoma sebaceum defines TSC.
We present a case report of an 18-year-old male with characteristic clinical and radiological features of tuberous sclerosis complex having a significant family history. The patient admitted to the hospital with features of status epilepticus revealed multiple hypo pigmented macules, adenoma sebaceum in a butterfly pattern, shagreen patch on the abdomen and a nodule in the fingertip, likely periungual fibroma thus fulfilling 5 major criteria of TSC. Patient also had a slightly impaired mental status. A tiny sub-enendymal nodule on brain MRI also supported the case. In general, only one-third of the disease is hereditary, while the rest are sporadic in nature. But significant family history is reported in our case where the 2 generations seem to be affected in sequence with variable manifestations. The severity has been noticed to be more in 2nd generations, mostly the younger siblings.
This case report intends to raise awareness of this illness among medical professionals and improve patient care. Further research on the genetic association of TSC and its severity as per generations needs to be evaluated to bring out more accurate statistical information. It is imperative to let the medical community know about the underlying condition, producing seizures to reduce the morbidity and mortality of this disease.