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KMID : 0605720070130010109
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Journal of the Korean Society of Biological Therapies in Psychiatry
2007 Volume.13 No. 1 p.109 ~ p.114
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A Case of Tuberous Sclerosisin Patient with Severe Mental Retardation
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Lee Joong-Kwon
Kim Jeong-Gee
Cho Dong-Hwan
Wang Kuan-Shu
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Abstract
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The authors have diagnosed with tuberous sclerosis complex for a patient who was mentally retarded and has been showing impairment in intelligence and social functioning, and seizure. Usually patients with tuberous sclerosis complex have a high rate of mental retardation associated with cortical tubers, seizure and genetic factors. In this case, the patient has developed seizure attacks since he was 4 years old. He had no specific abnormality found in earlier medical examination. He fled and returned home after he was found 7 years later. Unlike his previous condition, he had developed generalized tonic-clonic seizure along with severe stuttering, tremor, drooling and sleep disturbance. He visited the hospital for further evaluation and management. The psychiatric problems included, severe mental retardation, sleep disturbance, impulsive behavior, difficulty in attention and other problems. Multiple adenoma sebaceums found in his face and fibromas in his ungal areas(nail & toe) have been observed. We have also found a mass suspected as rhabdomyoma in the heart and multiple harmatoma in brain, kidney, and colon through radiological and endoscopic examination. We concluded the patient could be diagnosed with tuberous sclerosis complex since he showed the typical clinical manifestations of seizures, mental retardation and dermatological symptoms and ventricular rhabdomyoma, multiple angiomyolipoma in kidneys, multiple cortical tubers in radiological findings and ganglioneuroma in a colonoscopic biopsy, and adenoma sebaceum in a skin biopsy.
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KEYWORD
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Tuberous sclerosis complex, Mental retardation, Seizure
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