심한 정신지체 환자에서 발견된 Tuberous Sclerosis 1례
A Case of Tuberous Sclerosis Patient with Severe Mental Retardation
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초록
저자들은 지능 및 사회적 기능저하, 경련을 주소로 내원한 정신지체 환자에서 결절성 경화증(tuberous sclerosis complex)을 진단하였다. 결절성 경화증에 이환된 환자들은 피질 결절, 경련, 유전적 요소와 연관된 높은 비율의 정신지체를 보인다. 본 증례에서 환자는 4세 이후부터 간질성 발작을 보여 왔으며 초기 검사 상 특이한 이상을 발견하지 못해 간질, 정신지체로 치료하던 중 집을 나가 행방불명되었고 7년 만에 발견되어 귀가하였다. 이전과는 달리 심한 말더듬, 진전, 침 흘림, 수면장애 등과 함께 전신경련이 발생하여 치료 및 평가를 위해 입원하였다. 정신과적 증상으로는 제반 정신기능의 발달이 매우 지체되어 있었으며 수면장애, 충동적 행동, 주의집중 장애 등이 있었다. 안면부에 다수의 피지선종과 손톱, 발톱 근처에서 섬유종이 관찰되었고 내시경과 방사선 검사에서는 심장에서 횡문근종으로 추정되는 종괴와 뇌, 신장, 대장에서 다발성 과오종이 발견되었다. 경련, 정신지체, 안면부 피지선종의 전형적인 임상 증상과 심실 근종, 신장의 다발성 혈관근지방종, 다수의 피질 결절, 위장관 신경절신경종 등의 방사선 검사와 내시경 생검을 통하여 밝혀진 이상의 소견들이 모두 결절성 경화증의 진단에 합당하였다.
Abstract
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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