백색질장애의 임상적 고찰
Clinical Manifestations of Leukodystrophies: A Single Center Study
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목 적: 백색질장애는 중추신경계 백색질의 퇴행성 변화를 특징으로 하는 희귀 질환군으로 대부분 선천성 대사 이상에 의해 발생한다. 최근 유전자 분석 및 효소분석을 통해 좀더 자세한 질병의 진단이 가능해졌으며 여러 가지 새로운 치료들이 시도되고 있다. 이에 저자들은 단일 기관에서 15년간 경험한 유전성 백색질장애 환자들의 임상적 특징을 분석하고자 하였다. 방 법: 1991년 5월부터 2010년 5월까지 서울아산병원에서 백색질장애로 진단받은 환자 36례를 대상으로 후향적 의무기록 분석을 통해 임상적 특징, 뇌자기공명영상 소견, 생화학 및 유전학 검사 결과, 치료 및 예후에 대해 조사하였다. 결 과: 대상 환자의 평균 연령은 49개월, 남아 24례 여아 12례 이었다. 초기 증상으로는 발달지연 15례(41%), 발작 9례(25%), 안진 4례(11%), 발달퇴행 4례(11%), 청력소실 3례(8.3%), 보행장애 3례(8.3%), 시력장애 2례(5.5%), 주의력 결핍 2례(5.5 %), 저긴장증 2례(5.5%), 색소침착증 1례(2.7%), 편측마비 1례(2.7%) 이었다. 뇌자기공명영상 소견으로는 전반적 뇌실주변 침범 소견이 20례로 가장 많았으며, 두정-후두엽 9례, 무수초화 4례, 전두엽 침범 2례, 다발성 양뇌 반구 침범이 1례 있었다. 생화학적 검사를 한 환아 34례 중 17례가 진단되었고. 의심질환에 대해 시행한 유전자 분석으로 24례 중 11례에서 이상 소견이 발견되었다. 진단명으로는 원인불명이 15례(41%)로 가장 많았으며, 부신백색질장애 9례(25%), 이염색백색질장애 4례(11%), Krabbe병 4례(11%), Pelizaeus-Merzbacher병 3례(8.3%), Canavan병 1례가 있었다. 4례에서 조혈모세포 이식을 받았으며 이후 대부분에서 증상이 호전되거나 병의 진행이 늦어지는 것을 관찰하였다. 결 론:백색질장애는 진단되지 못하는 경우가 많고 치료 방법도 제한적이나 최근 골수이식 등 적극적인 치료 방법이 보고되고 있다. 본 연구에서도 적은 수의 증례이나 골수이식으로 치료받은 환자들이 비교적 양호한 경과를 보이고 있어 적극적 조기 진단으로 백질 장애 환자들에 대한 적절한 중재 및 관리가 필요하겠다.
Abstract
Purpose:Leukodystrophies have been defined as inherited metabolic disorders of myelin resulting in abnormal development or progressive destruction of the white matter. This study was performed to investigate the clinical manifestations and treatments of leukodystrophies in a single Korean tertiary center. Methods:We retrospectively analysed the medical records of patients who had been diagnosed with leukodystrophy from May 1995 to May 2010 at the Asan Medical Center. Results:During the 15-year study period, 36 cases of leukodystrophies were diagnosed with an verage age at symptom presentation of 49 months. Prominent symptoms at presentation were developmental delay (41%) and seizure (25%); however, nystagmus, developmental regression, hearing loss, gait disturbance, visual disturbance, attention deficit, hypotonia, hyperpigmentation, and hemiparesis were also observed. On MRI, periventricular involvement was noted frequently. The most common diagnoses were adrenoleukodystophy (25%), metachromatic leukodystrophy (11%), Krabbe disease (11%), and Pelizaeus-Merzbacher disease (8.3%). No final diagnosis was made in 14 cases (41%). Bone marrow transplantation was performed in 4 patients and showed favorable prognoses. Conclusion:Clinical features of leukodystrophies are not specific to diagnosis and most leukodystrophies remain undiagnosed; however, a logical algorithm based on prevalence could aid the laboratory testing. Because early detection and diagnosis is crucial for treatment and prognosis, it is important to have a high index of suspicion and watchful screening of familial history.
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