What syndrome involves the triad of hypopigmented macules, seizures, and mental retardation?

Study for the NBME Form 14 Step 2 Test with comprehensive questions and detailed explanations. Enhance your test-taking skills and ace your exam with confidence!

The correct answer pertains to tuberous sclerosis, which is characterized by a specific triad of symptoms that includes hypopigmented macules, seizures, and intellectual disability.

Hypopigmented macules, also known as ash-leaf spots, are skin lesions that are often seen in individuals with tuberous sclerosis and can be an important diagnostic criterion. Seizures are common in this condition due to the presence of cortical tubers—benign tumors that can develop in the brain and lead to seizures. The neurodevelopmental aspect, including varying degrees of intellectual disability, is another hallmark of the syndrome, significantly impacting the affected individual's cognitive development.

These symptoms are distinct and help differentiate tuberous sclerosis from other conditions. For example, neurofibromatosis primarily features café-au-lait spots and neurofibromas rather than the macules found in tuberous sclerosis. Dravet syndrome is associated with severe epilepsy in infancy but doesn't present with the same type of skin findings. Angelman syndrome is characterized by developmental delays, social smiling, and happy demeanor but lacks the specific triad of symptoms found in tuberous sclerosis. Thus, the combination of hypopigmented macules, seizures, and mental retardation aligns specifically

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