NAXE gene mutation-related progressive encephalopathy

作者：Li-Wei Chiu, Sheng‐Shing Lin, Chieh‐Ho Chen, Chien‐Heng Lin, Ni‐Chung Lee, Syuan‐Yu Hong, I‐Ching Chou, Chien-Lin Lin, Pei‐Yu Yang · 发表于：Medicine · 年份：2021 · DOI：10.1097/md.0000000000027548 · 被引用次数：21 · 研究领域：Neurological diseases and metabolism、Cholesterol and Lipid Metabolism、Biochemical Acid Research Studies

RATIONALE: Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this report, we present a rare case of NAXE gene mutation-related encephalopathy with unexpected neurological recovery and long survival time. PATIENT CONCERNS: A 20-month-old girl presented with progressively unsteady gait and bilateral hand tremors after a trivial febrile illness. Her disease rapidly progressed to consciousness disturbance, 4-limb weakness (muscle power: 1/5 on the Medical Research Council scale), and respiratory failure. The patient gradually recovered 2 months later. However, another episode of severe fever-induced encephalopathy developed 2 years after the initial presentation. DIAGNOSES: Results of laboratory investigations, including complete blood count, blood chemistry, inflammatory markers, and cerebral spinal fluid analysis were unremarkable. Electroencephalography and nerve conduction velocity studies yielded normal results. Brain magnetic resonance imaging on diffusion-weighted imaging revealed abnormal sysmmetric hyperintensity in the bilateral middle cerebellar peduncles. A genetic study using whole exome sequencing confirmed the diagnosis of NAXE gene mutation-related encephalopathy. INTERVENTIONS: Pulse therapy with methylprednisolone, intravenous immuno...