Chard Marisa, Appendino Juan Pablo, Bello-Espinosa Luis E, Curtis Colleen, Rho Jong M, Wei Xing-Chang, Al-Hertani Walla
Department of Pediatrics, Division of Metabolics, Royal University Hospital and College of Medicine, University of Saskatchewan, Saskatoon, SK, Canada.
Alberta Children's Hospital Research Institute, Calgary, AB, Canada.
Mol Genet Metab Rep. 2019 Jun 19;20:100483. doi: 10.1016/j.ymgmr.2019.100483. eCollection 2019 Sep.
Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) that presents with childhood developmental delay (especially speech delay), occasionally associated with epileptic encephalopathy, autism, or Rett-like syndrome. The majority of children described to date have been severely affected, with little to no expressive speech function, severe developmental delay, and cognitive impairment. Herein, five additional patients with BPAN identified in the same center in Canada are described, four with the typical severe phenotype and one with a milder phenotype. Our findings provide further evidence that a spectrum of severity exists for this rare and newly described condition. Challenges in identifying iron accumulation on brain MRI are also addressed. Additionally, the importance of including the gene on epilepsy and Rett-like syndrome genetic panels is highlighted.
β-螺旋桨蛋白相关神经变性（BPAN）是脑铁沉积神经变性（NBIA）的一种亚型，表现为儿童期发育迟缓（尤其是语言迟缓），偶尔伴有癫痫性脑病、自闭症或类瑞特综合征。迄今为止所描述的大多数儿童都受到了严重影响，几乎没有或完全没有表达性言语功能、严重发育迟缓和认知障碍。本文描述了在加拿大同一中心确诊的另外5例BPAN患者，其中4例具有典型的严重表型，1例具有较轻的表型。我们的研究结果进一步证明，这种罕见的新发现疾病存在严重程度谱。文中还讨论了在脑部MRI上识别铁沉积的挑战。此外，强调了将该基因纳入癫痫和类瑞特综合征基因检测板的重要性。
