Vanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity. We report a case of an adult female presenting with emotional lability and cognitive impairment, in addition to progressive dystonia, ataxia, postural instability and recurrent falls. Magnetic resonance imaging (MRI) of the brain and genetic testing confirmed the diagnosis of VWMD. VWMD has a broad clinical presentation in adulthood, and the age at onset of symptoms is one of its most important prognostic factors. It is crucial to recognize the pathognomonic MRI patterns and consider VWMD as a differential diagnosis when assessing patients presenting with psychiatric, cognitive and non-specific neurological symptoms.

中文翻译：

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成人疾病中白质的消失：一例报告。

消失的白质病（VWMD）是儿童期最普遍的遗传性白质病之一，但在成年期具有较高的表型变异和严重性已得到越来越多的认可。我们报道了一例成年女性，除了进行性肌张力障碍，共济失调，姿势不稳和反复跌倒外，还表现出情绪上的不稳定性和认知障碍。大脑的磁共振成像（MRI）和基因检测证实了VWMD的诊断。VWMD在成年期具有广泛的临床表现，并且症状发作的年龄是其最重要的预后因素之一。在评估表现出精神，认知和非特异性神经系统症状的患者时，认识到病理诊断MRI模式并将VWMD视为鉴别诊断至关重要。