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

Correct Answer: An infant with infantile spasms, a hypsarrhythmic EEG pattern, and ash-leaf depigmentation on her back

Description: 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.

Category: Pediatrics

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