Neurology病例:见于成人起病的X连锁肾上腺脑白质营养不良的额叶受累

2019-10-28 zyx整理 神经科病例撷英拾粹

42岁男性,表现为进行性行为和性格改变。患者产前,出生和神经发育无殊。查体提示行为过度活跃,下肢无力(肌力3级)伴锥体征阳性,无皮肤色素沉着或视觉障碍。脑MRI可见双侧额叶弥散病变,病灶边缘弥散受限和强化(图1)。血浆极长链脂肪酸水平升高,ABCD1基因p.Ser98Ter突变,及患者家系图(图2)证实为成人起病的X连锁肾上腺脑白质营养不良(X-ALD)。X-ALD是先天性代谢异常,主要累及脑后部

42岁男性,表现为进行性行为和性格改变。患者产前,出生和神经发育无殊。查体提示行为过度活跃,下肢无力(肌力3级)伴锥体征阳性,无皮肤色素沉着或视觉障碍。脑MRI可见双侧额叶弥散病变,病灶边缘弥散受限和强化(图1)。血浆极长链脂肪酸水平升高,ABCD1基因p.Ser98Ter突变,及患者家系图(图2)证实为成人起病的X连锁肾上腺脑白质营养不良(X-ALD)。X-ALD是先天性代谢异常,主要累及脑后部,包括顶枕叶和胼胝体压部;约15%的患者表现为不典型的前部受累模式。X-ALD中可见额叶受累,其影像学特征可有助于非典型X-ALD的诊断



(图1:T2WI[A]和FLAIR[B]可见双侧额叶弥漫白质高信号;DWI可见额叶白质病灶边缘弥散受限[C],增强可见强化[D])



(图2:A:ABCD1基因c.293C> A(p.Ser98Ter)突变序列测定;箭指涉及的核苷酸;B:家系图:本例用箭标记;III-2,III-4和IV-8为X连锁肾上腺脑白质营养不良;I-2,II-1,II-4,III-8,IV-2,IV-3和IV-9为女性携带者)

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    2019-12-04 yinhl1978
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