Select the most common clinical sign or symptom for diagnosis Tuberous sclerosis: (A) A 6-month-old child with blindness on the same side as a large facial lesion, (B) An infant with infantile spasms, a hypsarrhythmic EEG pattern, and ash-leaf depigmentation on her back, (C) An 18-year-old patient with a history of fractures and optic gliomas, who now has developed a malignant schwannoma, (D) A 2-year-old child with multiple episodes of skin infection and failure to thrive
Answer is B. Tuberous sclerosis, an autosomal dominant condition, can result in severe mental retardation and seizures. Infantile spasms, a hypsarrhythmic EEG pattern, hypopigmented lesions (ash-leaf spots), cardiac tumors, sebaceous adenomas, a shagreen patch (a roughened, raised lesion over the sacrum), and calcifications on the CT scan are all features of this condition. No specific treatment is available.