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November 1961

Tuberous Sclerosis in the Adult: An Unusual Case Without Mental Deficiency or Epilepsy

Author Affiliations


From the Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn., and the Veterans Administration Hospital, West Haven, Conn.; Clinical Fellow in Internal Medicine (Dr. Scheig) and Assistant Resident (Dr. Bornstein), Department of Internal Medicine, Grace-New Haven Community Hospital, New Haven, Conn.

Arch Intern Med. 1961;108(5):789-795. doi:10.1001/archinte.1961.03620110129017

The signs and symptoms of tuberous sclerosis usually appear in infancy or early childhood with no orderly sequence of development.1 Seizures and mental deficiency may be apparent at the age of 1 or 2 years while adenoma sebaceum and other cutaneous lesions most commonly appear between the ages of 4 and 9. Sometimes patients may show a forme fruste of the disease in which some of the features are absent. The disease, which affects males more commonly than females, occurs in approximately 1:50,000 births.2 About half give a family history of mental retardation, seizures, severe psychopathic or psychotic tendencies, or characteristic skin lesions.1 Inheritance appears to be on the basis of a rare autosomal dominant gene with incomplete penetrance.3,4 Occasionally, the gene may appear as a mutant. Formes frustes are thought to be due to an independent pair of modifying genes. Although 30% of patients are

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