Tuberous sclerosis presenting as a mass lesion in infancy

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Tuberous sclerosis is a heredofamilial disorder characterized by a clinical triad of adenoma sebaceum, seizures, and mental retardation. In addition to the central nervous system, involvement of virtually every organ of the body by a variety of “tumors” has been described. Though initially described by von Recklinghausen1 in 1862, the disease was more fully characterized and named by Bourneville2, 3 in a series of papers between 1880 and 1900. He discussed several cases of mental deficiency associated with “potato-like” nodules in the brain.

This case of tuberous sclerosis is reported because of the unusual clinical course which included the presence of a tuber acting as a mass lesion during infancy; the usual cutaneous stigmata of tuberous sclerosis were absent.

Case report

A 6-month-old infant was admitted to the Cleveland Clinic Hospital for evaluation of seizures. The pregnancy and delivery had been uncomplicated. Birth weight was 3 kg (6 pounds 9 ounces) with an initial Apgar score of 7. A grand mal seizure occurred when the patient was 4 days old. The seizures continued despite treatment with phenobarbital, and she was admitted to another hospital for evaluation when she was 2 weeks old. Skull roentgen-ograms, electroencephalogram, and pneumoencephalogram failed to disclose a cause for the seizures. By the age of 6 months she was having about 25 brief seizures a day, despite treatment with primidone, phenytoin, and pyridoxine.

The family history was positive for seizures in a maternal cousin. Both parents and an older sibling were normal, and lacked any cutaneous abnormalities. . . .



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