Early Manifestations of BPAN in a Pediatric Patient
Early Manifestations of BPAN in a Pediatric Patient
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DOI：
10.1002/ajmg.a.36779
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发表时间：
2014-12-01
影响因子：
2
通讯作者：
Imoto, Issei
中科院分区：
文献类型：
--
作者：
Okamoto, Nobuhiko;Ikeda, Tae;Imoto, Issei
神经变性伴脑铁蓄积（NBIA）包括一组临床和遗传异质性的进行性脑疾病，具有几个可区分的亚型。最近，WDR 45突变在螺旋桨蛋白相关神经变性（BPAN）患者中有报道，其特征为早期智力残疾，随后是延迟进行性运动和认知恶化，在第二至第三个十年发病。BPAN有一个独特的脑磁共振成像（MRI）模式显示铁沉积在苍白球和黑质。迄今为止，许多BPAN患者在成年时被诊断出来。在这里，我们报告6岁的女孩与BPAN诊断全外显子组测序。她表现出雷特综合征样表现，一个特殊的面部外观和轻度升高的血清酶。采用T2* 加权MRI和T2-星星加权血管造影（SWAN）检测脑铁蓄积。这种独特的临床和影像学特征的结合可能有助于BPAN的早期诊断。(c)2014 Wiley Periodicals，Inc.
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, WDR45 mutations were reported in patients with -propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. BPAN has a distinct brain magnetic resonance imaging (MRI) pattern showing iron deposition in the globus pallidus and substantia nigra. To date, many of the BPAN patients have been diagnosed in adulthood. Here, we report on 6-year-old girl with BPAN diagnosed by whole exome sequencing. She showed Rett syndrome-like manifestations, a peculiar facial appearance and mildly elevated serum enzymes. Brain iron accumulation was detected by T2*-weighted MRI and T2-star weighted angiography (SWAN). This unique combination of clinical and neuroimaging features may be helpful for early diagnosis of BPAN. (c) 2014 Wiley Periodicals, Inc.