Adrenoleukodystrophy: Clinical Analysis of 9 Taiwanese Children

腎上腺白質養症是一種罕見的性聯遺傳過氧化小體疾病，主要影響腎上腺及腦白質。我們收集台大醫院1993年至2002年間9位腎上腺白質失養症兒童；診斷爲腎上腺白質失養症之平均年齡7.4歲，我們分析病人之臨床症狀、治療效果、預後和神經影像間之相關性。最常見之臨床表徵爲功課退步及性格異常，但有3位病人一開始是以腎上腺功能不足表現。在這9位病人中，7位有腦部磁振造影異常。有3位病人接受骨髓移植，其中2位死於移植物抗宿主反應，1位目前仍存活，神經學症狀並無繼續惡化。其餘病人中有2位處於植物人狀態，另2位神經學檢查正常。其他病人則分別接受羅倫佐油或Lovastatin治療，但均無法改變腦白質脫髓鞘之進行。我們的結論是台灣兒童腎上腺白質失養症病患之臨床症狀、預後和神經影像異常與西方國家類似，典型的腦部磁振造影變化是兩側顳－枕區之白質脫髓鞘現象。質譜磁振造影可用來評估無臨床表徵或是腦部磁振造影正常之病人。爲了降低移植物抗宿主反應，我們建議腎上腺白質失養症兒童，經過審慎評估後，在腦部磁振造影或質譜磁振造影有異常但尚未有神經學症狀前，若有合適捐髓者，可攷慮早期接受T型淋巴球處理之骨髓移植或臍帶血移植。

關鍵字

腎上腺白質失養症；質譜磁振造影；骨髓移植

並列摘要

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder and identified in many races without apparent predilection for any race. This study was designed to investigate the clinical and therapeutic aspects of X-ALD in Taiwanese children with this disorder. We retrospectively reviewed all children admitted to NTUH from Nov. 1993 to Aug. 2002 with the diagnosis of ALD, defined by increased very long chain fatty acid (VLCFA). The mean age at diagnosis of the patients was 7.4 years (range, 2.8 to 13 years). Seven out of 9 patients had abnormal brain magnetic resonance image (MRI) studies. Three patients received bone marrow transplantation. Of these, two died of severe graft- versus-host disease and the other remained stable. Of the remaining 6 patients, two patients were in vegetative status and the other two patients were neurologically normal. X-ALD in Taiwanese children had similar clinical manifestations as reviewed in western countries. Symmetrical demyelination in parieto-occipital region and the accumulation of contrast material at the edge of the lesion are the typical MRI findings. Proton MR spectroscopy (MRS) can be used to evaluate either the asymptomatic patient or patient with normal brain image. Performance of T-cell depletion bone marrow transplantation or cord blood transplantation is suggested for X-ALD with early cerebral involvement.

並列關鍵字

adrenoleukodystrophy ； magnetic resonance spectroscopy ； bone marrow transplantation

國際替代計量

Adrenoleukodystrophy: Clinical Analysis of 9 Taiwanese Children

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