Nagdev Govind, Vhora Rajeshwari S, Chavan Gajanan, Sahu Gaurav
Department of Emergency Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Department of Emergency Medicine, B. J. Medical College & Sassoon General Hospital, Pune, IND.
Cureus. 2022 Oct 11;14(10):e30177. doi: 10.7759/cureus.30177. eCollection 2022 Oct.
Vanishing white matter disease (VWMD) is the most common childhood-onset inheritable progressive leukodystrophy disorder, which exclusively affects the white matter of the brain. It shows mutations in one of the five eukaryotic translation initiation factor following an autosomal recessive pattern, of which eIF2B5 mutation is the most frequent. These genes play a vital role in the translation and regulation of protein synthesis and mutation in them leads to a dysregulation of the cellular stress response, which in particular disrupts myelination and affects oligodendrocytes and astrocytes while sparing the neurons. Stressful situations, for example, head trauma, sudden fright, acute psychological stress, or infection, provoke severe and rapid neurological deterioration. Although it is more common in childhood, we report a case of an adult presenting with signs and symptoms of VWMD, such as abusive behavior, emotional liability, and motor incoordination. To our knowledge, this is the first case of adult-onset VWMD in Maharashtra, India, confirmed by magnetic resonance imaging (MRI) of the brain.
消失性白质病（VWMD）是最常见的儿童期起病的遗传性进行性脑白质营养不良症，仅影响大脑白质。它表现为五个真核生物翻译起始因子之一发生突变，呈常染色体隐性遗传模式，其中eIF2B5突变最为常见。这些基因在蛋白质合成的翻译和调节中起关键作用，它们的突变导致细胞应激反应失调，尤其会破坏髓鞘形成，影响少突胶质细胞和星形胶质细胞，而神经元不受影响。应激情况，例如头部外伤、突然惊吓、急性心理压力或感染，会引发严重且迅速的神经功能恶化。虽然它在儿童期更为常见，但我们报告了一例成年患者，表现出VWMD的体征和症状，如攻击行为、情绪易激惹和运动不协调。据我们所知，这是印度马哈拉施特拉邦首例经脑部磁共振成像（MRI）确诊的成年起病的VWMD病例。
