Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of life. Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegenerative course is distinctly unusual. We describe a young child with Sjögren-Larsson syndrome who exhibited an early and severely progressive neurologic phenotype that may have been triggered by a febrile rotavirus infection. Together with 7 additional published cases of these atypical patients, we emphasize that a neurodegenerative course can be an extreme outcome for a minority of patients with Sjögren-Larsson syndrome.

Sjögren-Larsson 综合征 (SLS) 是一种罕见的神经系统疾病，由ALDH3A2的致病序列变异引起并以鱼鳞病、痉挛、智力障碍和结晶性视网膜病变为特征。神经系统症状出现在生命的头 2 年。除了由于痉挛性瘫痪和挛缩导致的行走恶化外，神经系统疾病一直被认为是静态的，神经退行性病程明显不常见。我们描述了一名患有 Sjögren-Larsson 综合征的幼儿，他表现出可能由发热性轮状病毒感染引发的早期且严重进行性神经系统表型。连同这些非典型患者的另外 7 个已发表病例，我们强调神经退行性病程可能是少数 Sjögren-Larsson 综合征患者的极端结果。