PDF(Pubmed)
Abstract：
UNASSIGNED: Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report a patient with ACBD5 deficiency who was diagnosed after a complicated diagnostic process.
UNASSIGNED: A 6-year-old male patient was admitted with complaints of neuromotor regression and visual disturbances. He had spastic paraparesis dominated with axial hypotonic posturing and horizontal nystagmus. His very-long-chain fatty acid levels were within normal ranges with a slightly elevated C26:0/C22:0 ratio. Brain magnetic resonance imaging revealed white matter involvement. Clinical exome sequencing displayed a novel homozygous intronic splice site variant (c.936 + 2T>G) in the ACBD5 (NM_145698.5) gene.
UNASSIGNED: With this report, a novel variant in ACBD5 deficiency was described. Macular dystrophy was demonstrated with optical coherence tomography imaging for the first time in the literature in ACBD5 deficiency. In order to contribute to the knowledge about the clinical, biochemical, and genetic spectrum of ACBD5 deficiency, new patients need to be defined.
UNASSIGNED: A 6-year-old male patient was admitted with complaints of neuromotor regression and visual disturbances. He had spastic paraparesis dominated with axial hypotonic posturing and horizontal nystagmus. His very-long-chain fatty acid levels were within normal ranges with a slightly elevated C26:0/C22:0 ratio. Brain magnetic resonance imaging revealed white matter involvement. Clinical exome sequencing displayed a novel homozygous intronic splice site variant (c.936 + 2T>G) in the ACBD5 (NM_145698.5) gene.
UNASSIGNED: With this report, a novel variant in ACBD5 deficiency was described. Macular dystrophy was demonstrated with optical coherence tomography imaging for the first time in the literature in ACBD5 deficiency. In order to contribute to the knowledge about the clinical, biochemical, and genetic spectrum of ACBD5 deficiency, new patients need to be defined.
摘要：
■含酰基-CoA结合域5（ACBD5）缺乏症是一种新定义的先天性过氧化物酶体疾病，迄今为止仅报告了7例患者。在这里，我们报告了1例ACBD5缺乏症患者,经过复杂的诊断过程后确诊.
■一名6岁男性患者因神经运动退化和视觉障碍而入院。他患有痉挛性轻瘫，以轴向低张姿势和水平眼震为主。他的超长链脂肪酸水平在正常范围内，C26：0/C22：0比例略有升高。脑磁共振成像显示脑白质受累。临床外显子组测序显示ACBD5(NM_145698.5)基因中的新的纯合内含子剪接位点变体(c.936+2T>G)。
■有了这份报告，描述了ACBD5缺乏症的一种新变体。在ACBD5缺乏症的文献中，首次通过光学相干断层扫描成像证明了黄斑营养不良。为了有助于了解临床，生物化学，和ACBD5缺乏症的遗传谱，需要定义新患者。
■一名6岁男性患者因神经运动退化和视觉障碍而入院。他患有痉挛性轻瘫，以轴向低张姿势和水平眼震为主。他的超长链脂肪酸水平在正常范围内，C26：0/C22：0比例略有升高。脑磁共振成像显示脑白质受累。临床外显子组测序显示ACBD5(NM_145698.5)基因中的新的纯合内含子剪接位点变体(c.936+2T>G)。
■有了这份报告，描述了ACBD5缺乏症的一种新变体。在ACBD5缺乏症的文献中，首次通过光学相干断层扫描成像证明了黄斑营养不良。为了有助于了解临床，生物化学，和ACBD5缺乏症的遗传谱，需要定义新患者。
