| Clinical observation on tuberous sclerosis. |
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Yong Seung Hwang, Yong Soo Yun |
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Department of Pediatrics, Seoul National University, College of Medicine, Seoul, Korea |
| 결절성 경화증에 대한 임상적 관찰
- 신경학적 증상 및 심에코 검사를 중심으로 - |
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황용승, 윤용수 |
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서울대학교 의과대학 소아과학교실 |
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Received: 22 February 1991 • Accepted: 26 April 1991 |
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| Abstract |
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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. |
| Key Words:
Tuberous sclerosis, Cardiae tumor, Echocardiography, Cardiac rhabdomyoma, Sezure |
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