Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Pediatric Neurology Section, Department of Pediatrics, Hospital Universitario La Moraleja, Madrid, Spain.
Eur J Paediatr Neurol. 2021 Sep;34:105-109. doi: 10.1016/j.ejpn.2021.08.005. Epub 2021 Aug 26.
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) are all caused by mutations in the same gene: ATP1A3. Although initially they were considered separate disorders, recent evidence suggests a continuous clinical spectrum of ATP1A3-related disorders. At onset all these disorders can present with acute brainstem dysfunction triggered by a febrile illness. An infectious or autoimmune disorder is usually suspected. A genetic disorder is rarely considered in the first acute episode. We present three patients with ATP1A3 mutations: one patient with AHC, one patient with RDP, and one patient with CAPOS syndrome. We describe the acute onset and overlapping clinical features of these three patients with classical phenotypes. These cases highlight ATP1A3-related disorders as a possible cause of acute brainstem dysfunction with normal ancillary testing.
儿童交替性偏瘫（AHC）、快速进展性肌张力障碍帕金森综合征（RDP）和 CAPOS 综合征（小脑共济失调、腱反射消失、高弓足、视神经萎缩和感觉神经性听力损失）均由同一基因 ATP1A3 的突变引起。虽然最初它们被认为是独立的疾病，但最近的证据表明，ATP1A3 相关疾病存在连续的临床谱。在发病时，所有这些疾病都可能因发热性疾病而导致急性脑干功能障碍。通常怀疑是感染或自身免疫性疾病。在首次急性发作时很少考虑遗传疾病。我们介绍了 3 例 ATP1A3 突变患者：1 例 AHC 患者、1 例 RDP 患者和 1 例 CAPOS 综合征患者。我们描述了这 3 例具有典型表型的患者急性发作和重叠的临床特征。这些病例强调了 ATP1A3 相关疾病可能是急性脑干功能障碍伴正常辅助检查的原因。
