|
Tuberous sclerosis is a rare congenital disease with dominant inheritance characterized by clinical triad of epilepsy, adenoma sebaceum and progressive mental deficiency. The cases have been reported from all over the world and 10 cases in Korean literatures. Tuberous sclerosis affects many organs of the body, butpulmonary involvement or malignant brain tumor is rarely associated. This paper presents the first case of tuberous sclerosis with pulmonary involvement.´ and malignant brain tumor in Korea and a brief review of pertinent literatures. A 36 year-old man was hospitalized with the symptoms of severe headache and blurred vision. Family history was significant in that his first daughter died of recurrent epileptic seizures at the age of 4, and a 2 year-old son has had convulsions since 3 months after birth. Positive physical and neurologic findings were, ´dull appearance with mild degree of intellectual deficiency, typical adenoma sebaceum on the face, ,periungual fibromas of the fingers and toes and , bilateral papilledema Roentgenographic examinations of, chest, skull and spine, and intravenous pyelogram showed fine reticular infiltrations in the entire lung fields, two large calcifications in the deep parietal portion of the left cerebral hemisphere, spina bifida of the 4th and 5th lumber, vertebra and ;´-faintly visualized left kidney with lobulated outer margin, respectively. Special studies such as electroencephalography, brain scan, left carotid angiography and conray ventriculography were compatible with huge space occupying legion in the left frontal lobe. A large left frontal tumor was confirmed on surgery´ and was partially re oved. Histological finding was astrocytoma grade Bl. The patient showed satisfactory relief of symptoms , such as headache and blurred vision.
|