PDF(Pubmed)
Abstract：
BACKGROUND: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder affecting the white matter of the brain. It typically manifests during childhood, with clinical features including sudden and severe neurological deterioration triggered by stressors such as febrile illness, minor head trauma, or stressful events. Adult-onset cases of VWM are exceptionally uncommon.
METHODS: In this case, we present an adult patient who exhibited late-onset progressive VWM characterized by ataxia, postural instability, cognitive impairment, and emotional disturbances. Comprehensive screening for endocrine, metabolic, tumor, and immunologic disorders yielded normal or negative results. Brain imaging revealed diffuse and confluent hyperintensity in the white matter on T2-weighted images, along with periventricular cavitations. Genetic testing confirmed the diagnosis of VWM, identifying two heterozygous variants in the eukaryotic translation initiation factor 2B subunit γ (EIF2B3) gene: a pathogenic variant, c.1037 T > C (p.I346T), and a variant of undetermined significance, c.22A > T (p.M8L). Upon a 2-year follow-up, the patient\'s symptoms deteriorated rapidly following a COVID-19 infection.
CONCLUSIONS: In conclusion, we have presented a case of classical adult-onset VWM. Since there are no cures or definitive treatments for the disease, it\'s extremely important to focus on early diagnosis and the prevention of stressors to avoid acute deterioration.
METHODS: In this case, we present an adult patient who exhibited late-onset progressive VWM characterized by ataxia, postural instability, cognitive impairment, and emotional disturbances. Comprehensive screening for endocrine, metabolic, tumor, and immunologic disorders yielded normal or negative results. Brain imaging revealed diffuse and confluent hyperintensity in the white matter on T2-weighted images, along with periventricular cavitations. Genetic testing confirmed the diagnosis of VWM, identifying two heterozygous variants in the eukaryotic translation initiation factor 2B subunit γ (EIF2B3) gene: a pathogenic variant, c.1037 T > C (p.I346T), and a variant of undetermined significance, c.22A > T (p.M8L). Upon a 2-year follow-up, the patient\'s symptoms deteriorated rapidly following a COVID-19 infection.
CONCLUSIONS: In conclusion, we have presented a case of classical adult-onset VWM. Since there are no cures or definitive treatments for the disease, it\'s extremely important to focus on early diagnosis and the prevention of stressors to avoid acute deterioration.
摘要：
背景：白质消失的白质脑病（VWM）是一种常染色体隐性遗传疾病，影响大脑白质。它通常表现在童年，具有临床特征，包括由热性疾病等应激源引发的突然和严重的神经系统恶化，轻微的头部创伤,或紧张的事件。VWM的成人发作病例非常罕见。
方法：在这种情况下，我们介绍了一名成年患者，其表现为以共济失调为特征的迟发性进行性VWM，姿势不稳定，认知障碍，和情绪困扰。内分泌综合筛查，新陈代谢，肿瘤，免疫疾病产生正常或阴性结果。脑成像在T2加权图像上显示白质的弥漫性和汇合性高强度，还有脑室周围的空洞.基因检测证实了VWM的诊断，鉴定真核翻译起始因子2B亚基γ（EIF2B3）基因中的两个杂合变体：致病性变体，c.1037T>C（p。I346T),和一个意义不确定的变体，c.22A>T（p。M8L)。经过2年的随访，患者的症状在COVID-19感染后迅速恶化。
结论：结论：我们提出了一个典型的成人发作的VWM病例。由于这种疾病没有治愈或确定的治疗方法，重视应激源的早期诊断和预防以避免急性恶化是非常重要的。
方法：在这种情况下，我们介绍了一名成年患者，其表现为以共济失调为特征的迟发性进行性VWM，姿势不稳定，认知障碍，和情绪困扰。内分泌综合筛查，新陈代谢，肿瘤，免疫疾病产生正常或阴性结果。脑成像在T2加权图像上显示白质的弥漫性和汇合性高强度，还有脑室周围的空洞.基因检测证实了VWM的诊断，鉴定真核翻译起始因子2B亚基γ（EIF2B3）基因中的两个杂合变体：致病性变体，c.1037T>C（p。I346T),和一个意义不确定的变体，c.22A>T（p。M8L)。经过2年的随访，患者的症状在COVID-19感染后迅速恶化。
结论：结论：我们提出了一个典型的成人发作的VWM病例。由于这种疾病没有治愈或确定的治疗方法，重视应激源的早期诊断和预防以避免急性恶化是非常重要的。
