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Diagnosis Mistakes » Mental retardation in Tuberous sclerosis

Mental retardation in Tuberous sclerosis

Tuberous sclerosis is a rare autosomal dominant genetic disorder. It includes mental retardation, seizures and skin lesions. The symptoms may not be seen till late childhood. Seizures are the most common presentation and often treated for the same. Skin lesions often present as leafy shaped lesions seen on cheeks, forehead along with reddish nodules over the nose. Mental retardation and skin lesions are often missed during the diagnosis and hence the diagnosis of tuberous sclerosis is missed. Surgery may be required for cosmetic reasons and removal of the tumor may be necessary in case of pressure symptoms. Early diagnosis and treatment helps in detection for the future offspring.

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