Kashani Alireza, Thiffault Isabelle, Dilenge Marie-Emmanuelle, Saint-Martin Christine, Guerrero Kether, Tran Luan T, Shoubridge Eric, van der Knaap Marjo S, Braverman Nancy, Bernard Geneviève
Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 2300 Tupper Street, Montreal, QC, H3H 1P3, Canada,
Neurogenetics. 2014 Aug;15(3):161-4. doi: 10.1007/s10048-014-0412-2. Epub 2014 Jun 21.
We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I activity. Magnetic resonance imaging of the brain showed a diffuse cystic leukoencephalopathy with the involvement of the corpus callosum and sparing of the gray matter. The clinical course was marked by an acute presentation of neurological deficits at 24 months followed by recurrent episodes of mild neurological deterioration, subsequent remissions, and prolonged periods of stability. This is one of the mildest known clinical presentations of complex I deficiency secondary to mutations in NDUFS1, expanding the clinical spectrum and natural history of this disorder. Consideration of clinical variability needs to be taken into account in patient management and family counseling.
我们报告了一例7岁男孩患轻度空洞性白质脑病，其与纯合子c.755A > G（p.Asp252Gly）NDUFS1突变相关。生化分析证实复合体I活性单独降低。脑部磁共振成像显示弥漫性囊性白质脑病，累及胼胝体，灰质未受累。临床病程特点为24个月时急性出现神经功能缺损，随后有轻度神经功能恶化的复发发作、随后缓解以及长期稳定期。这是已知由NDUFS1突变继发的复合体I缺乏最轻微的临床表现之一，扩展了该疾病的临床谱和自然史。在患者管理和家庭咨询中需要考虑临床变异性。
