All issues > Volume 34(7); 1991

Original Article

J Korean Pediatr Soc. 1991;34(7):992-998. Published online July 31, 1991.

Clinical observation on tuberous sclerosis.

Yong Seung Hwang¹, Yong Soo Yun¹

¹Department of Pediatrics, Seoul National University, College of Medicine, Seoul, Korea

Received: February 22, 1991;  Accepted: April 26, 1991.

Abstract

Thirty one cases of tuberous sclerosis were seen at the Dept, of Pediatrics, Seoul National University Children’s Hospital. Thirteen cases (41.9%) were diagnosed before 1 year of age and the sex ratio was 2.9:1 with male prefonderance The clinical epileptic manifestations were seen in 28 patients (90.3%), of whom generalized tonic clonic seizures were associated in 12 cases (42.8%) and infantile spasm in 9 cases (32.1%). EEG findings were variable, showing focal or multifocal spikes in 9 patients. Mental retardation was seen in 14 patient. Normal intelligence, however, was noted in 5 patients although 12 patients were too young to be adequately evaluated for intelligece. Brain CT scan showed typical periventricular calcification in 27 cases (87.1%). All the infantile spasm patients, therefore, should be examined carefully for any skin manifestations of hypopigmented macules suggesting tuberous sclerosis and be checked with brain CT scan. Dignostic skin manifestations of hypopigmented macule were seen in 25 cases (80.7%), facial angiofibroma in 19 cases (61.3%), shagreen patch in 9 cases (29.0%). Hypopigmented macules were diagnostic clues in young infacy. The youngest age when facial angiofibroma appeared was 12 month. Echocardiography was performed in 25 patients. Cardiac rhabdomyomata were found in 11 patients (44.0%), of whom cardiac arrhythmia and cardiac murmur were detected in only 2 patients respective- ly. Echocardiography would be mandatory for all suspected or diagnosed tuberous sclerosis patients.

Keywords :Tuberous sclerosis;Cardiae tumor;Echocardiography;Cardiac rhabdomyoma;Sezure