심한 정신지체 환자에서 발견된 Tuberous Sclerosis 1례 = A Case of Tuberous Sclerosisin Patient with Severe Mental Retardation

국문 초록 (Abstract)

본 증례의 환자는 임상증상, 방사선학적 소견, 조직학적 검사를 토대로 하여 결절성 경화증으로 진단을 내렸다. 전형적인 결절성 경화증과는 달리 드물게 나타나는 심장과 소화기의 종양을 가지고 있었으며 영아연축 및 경련의 시작, 피부병변의 발생시점이 늦게 시작되었다. 경련의 발생시점이 늦은 것으로 보아 정신지체는 경련과의 연관성보다는 현재 관찰되는 전두엽, 측두엽, 후두엽 내의 병변의 위치와 다수의 결절성 병변으로 인한 것으로 생각된다. 이로 인해 언어표현, 이해, 주의집중, 계산, 이해, 판단 등 제반 정신기능의 발달이 매우 지체되어 있을 것으로 판단되며 환자의 예후는 좋지 않을 것으로 생각된다.

다국어 초록 (Multilingual 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.

목차 (Table of Contents)

• 서론
• 증례
• 고찰
• 요약
• 참고문헌

참고문헌 (Reference)

• 1 Ridler K, "Widespread anatomical abnormalities of gray and white matter structure in tuberous sclerosis" 31 (31): 1437-1446, 2001
• 2 Curatolo P, "Tuberous sclerosis complex:A review of neurological aspects" 6 : 15-23, 2002
• 3 Berns DH, "Tuberous sclerosis : Increased MR detection using gradient echo techniques" 13 (13): 896-898, 1989
• 4 Gomez MR, "Tuberous Sclerosis Complex." Oxford University Press: New York and Oxford 219-227, 1999
• 5 O'Callaghan FJ, "The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex" 89 (89): 530-533, 2004
• 6 Sampson JR, "TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis" 31 (31): 592-595, 2003
• 7 O'Callaghan FJ, "Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex, letter" 37 : 156-157, 2000
• 8 Adams RD, "Principles of Neurology 6th ed" McGraw-Hill Companies 1011-, 1997
• 9 Jozwiak S, "Poor mental development in patients with tuberous sclerosis complex: clinical risk factors" 55 (55): 379-84, 1998
• 10 Webb DW, "New research in tuberous sclerosis" 304 : 1647-1648, 1992
• 11 Jambaque I, "Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings" 33 : 698-705, 1991
• 12 Miya R, "Neuropsychiatric problems in tuberous sclerosis complex" 19 (19): 241-9, 2004
• 13 Behrman RE, "Nelson Textbook of pediatrics, 17th ed" Philadelphia : Saunders Co 2017-, 2004
• 14 Dabora SL, "Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2,compared with TSC1,disease in multiple organs" 68 : 64-80, 2001
• 15 CM. Zaroff, "Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex" 15 (15): 558-62, 2006
• 16 Shepherd CW, "MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment" 16 : 149-155, 1995
• 17 Gillberg IC, "Autistic behavior and attention deficits in tuberous sclerosis:A population-based study" 36 : 50-56, 1994