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Picture of the Month

Raanan Arens, MD; Murray Feingold, MD
Am J Dis Child. 1988;142(10):1083-1084. doi:10.1001/archpedi.1988.02150100077030.
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Denouement and Discussion 

Manifestations  Tuberous sclerosis is a major genetic cause of mental retardation and intractable seizures. A variety of lesions are present in multiple organs, including the brain, skin, eyes, kidneys, heart, bones, and lungs. These lesions consist of cells of more than one type, eg, fibroblasts, angioblasts or glioblasts, and neuroblasts. Convulsions are the most common clinical sign of brain involvement and occur in more than 90% of patients. Mental retardation, varying from mild to severe, is present in 60% to 70% of patients. The characteristic cerebral lesions are sclerotic patches (tubers) scattered throughout the cortical gray matter. There may also be multiple small tumor nodules with a periventricular distribution. These tumors usually enlarge, become calcified, are frequently present in the basal ganglion, and may undergo malignant transformation.Skin manifestations present during infancy or later in childhood include hypopigmented macules in approximately 85% of patients. These lesions are hypomelanotic macules, usually


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