Sasaki Akiko, Hayakawa Itaru, Mutoh Tatsuro, Abe Yuichi
Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
Department of Neurology, Fujita Health University Hospital, Aichi, Japan.
Heliyon. 2022 Aug 15;8(8):e10198. doi: 10.1016/j.heliyon.2022.e10198. eCollection 2022 Aug.
The anti-lactosylceramide (LacCer) antibody is an anti-neutral glycolipid antibody that is involved in the pathogenesis of encephalomyeloradiculoneuropathy (EMRN). It causes acute and subacute injuries to both the central and peripheral nerves. However, no pediatric cases of anti-LacCer antibody-positive EMRN have been reported so far.
A 12-year-old girl presented with signs of meningitis. She subsequently showed disturbance of consciousness and flaccid tetraplegia and was placed on mechanical ventilation due to respiratory failure. MRI showed lesions in the cerebral white matter, basal ganglia, medulla oblongata, as well as the anterior horn of the spinal cord at the C2 to Th1 and Th11 to L1 levels. Nerve-conduction studies showed axonal neuropathy of the motor nerves. After steroid pulse therapy, high-dose immunoglobulin therapy, and plasma exchange, the lesions gradually regressed, and the neurological symptoms improved steadily. The neurological sequelae were minimal at 6 months after disease onset. Although serum anti-aquaporin 4 and anti-myelin oligodendrocyte glycoprotein antibodies were negative, she showed positive anti-lactosylceramide antibody in both serum and cerebrospinal fluid, indicating that these antibodies may be involved in the pathogenesis of this disease.
The first pediatric case of anti-LacCer antibody-positive EMRN showed similar features to the same disease in adults. Anti-neutral glycolipid antibodies should be measured in children presenting with a wide range of neurological symptoms involving both central and peripheral nerves.
抗乳糖酰鞘氨醇（LacCer）抗体是一种抗中性糖脂抗体，参与脑脊髓神经根神经病（EMRN）的发病机制。它会对中枢神经和周围神经造成急性和亚急性损伤。然而，迄今为止尚未报道过抗LacCer抗体阳性的儿童EMRN病例。
一名12岁女孩出现脑膜炎症状。随后她出现意识障碍和弛缓性四肢瘫，因呼吸衰竭接受机械通气。MRI显示脑白质、基底神经节、延髓以及C2至Th1和Th11至L1水平脊髓前角有病变。神经传导研究显示运动神经轴索性神经病。经过类固醇冲击治疗（激素冲击疗法）、大剂量免疫球蛋白治疗和血浆置换后，病变逐渐消退，神经症状稳步改善。发病6个月时神经后遗症极少。尽管血清抗水通道蛋白4和抗髓鞘少突胶质细胞糖蛋白抗体均为阴性，但她的血清和脑脊液中抗乳糖酰鞘氨醇抗体呈阳性，表明这些抗体可能参与了该疾病的发病机制。
首例抗LacCer抗体阳性的儿童EMRN表现出与成人相同疾病相似的特征。对于出现涉及中枢和周围神经的广泛神经症状的儿童，应检测抗中性糖脂抗体。
