A 7-year-old male patient presented with ceain lesions on the face and the lumbosacral region. Patient also gave a history of frequent episodes of seizures for which NCCT head was done. Which of the following chromosomes is involved in the above disease: –
## **Core Concept**
The question describes a patient with lesions on the face and lumbosacral region, along with a history of seizures. This clinical presentation suggests a neurocutaneous disorder, specifically **tuberous sclerosis complex (TSC)**. TSC is a genetic disorder characterized by the growth of noncancerous tumors in various parts of the body, including the brain, skin, kidneys, and other organs.
## **Why the Correct Answer is Right**
Tuberous sclerosis complex is primarily associated with mutations in two genes: **TSC1** (hamartin) and **TSC2** (tuberin). These genes act as tumor suppressor genes, and their mutations lead to the development of hamartomas in multiple organs. The TSC1 gene is located on **chromosome 9**, which corresponds to option . The clinical features of TSC include skin lesions (adenoma sebaceum, ash-leaf spots), seizures, and intracranial tubers visible on neuroimaging like NCCT or MRI.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Chromosome 5 is not primarily associated with tuberous sclerosis complex. While genetic disorders can have varied presentations, TSC is specifically linked to chromosomes 9 and 16.
- **Option B:** Chromosome 12 is not directly implicated in the pathogenesis of tuberous sclerosis complex.
- **Option D:** Chromosome 16 is associated with **TSC2**, but the question seems to be pointing towards a singular correct answer related to the condition described, and **TSC1** on chromosome 9 is a key gene.
## **Clinical Pearl / High-Yield Fact**
A key clinical feature of tuberous sclerosis complex is the presence of **adenoma sebaceum** (facial angiofibromas) and **ash-leaf spots** (hypopigmented macules), along with seizures and developmental delay. The presence of these skin lesions along with seizures should prompt consideration of TSC, and genetic testing can confirm the diagnosis by identifying mutations in **TSC1** or **TSC2**.
## **Correct Answer:** . 9