x连锁肾上腺脑白质营养不良最初表现为严重耳聋

Türkiye Klinikleri Journal of Case Reports Pub Date : 2018-01-01 DOI:10.5336/CASEREP.2017-57351

Pembe Soylu Ustkoyuncu, A. Guven, A. Kiraz, Songul Gokay, Durmuş Doğan

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引用次数: 0

摘要

90 -linked肾上腺白质营养不良(ALD)是最常见的过氧化物酶体疾病，以中枢神经系统进行性脱髓鞘和肾上腺功能不全为特征。学习成绩差、注意力缺陷、行为改变、严重的视觉和听力障碍是主要的临床表现。低血糖和/或盐丢失、皮肤色素沉着、四肢瘫痪和脑共济失调也可能发生

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X-linked Adrenoleukodystrophy Initially Presenting with Severe Deafness

90 -linked adrenoleukodystrophy (ALD) is the most common peroxisomal disorder characterized by progressive demyelination of the central nervous system and adrenal insufficiency. Poor school performance, attention deficit, behavioral changes, severe visual and hearing impairment are major clinical findings. Hypoglycemia and/or episodes of salt loss, skin hyperpigmentation, quadriplegia and cerebral ataxia may also occur.1

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Türkiye Klinikleri Journal of Case Reports

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