A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
A new NBIA patient from Turkey with homozygous C19ORF12 mutation.
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一名来自土耳其的新 NBIA 患者，具有 C19ORF12 纯合突变。
DOI：
10.1007/s13760-018-1026-5
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发表时间：
2019
影响因子：
2.7
通讯作者：
Hayflick,Susan
中科院分区：
文献类型：
--
作者：
Kasapkara,ÇiğdemSeher;Tümer,Leyla;Gregory,Allison;Ezgü,Fatih;İnci,Aslı;Derinkuyu,BetülEmine;Fox,Rachel;Rogers,Caleb;Hayflick,Susan
讨论脑铁积累性神经变性（NBIA）是一组以常染色体显性、隐性或 X 连锁性状遗传的神经退行性疾病，其中铁在大脑中积累，导致进行性肌张力障碍、痉挛、帕金森病、神经精神异常、视神经萎缩或视网膜变性。在这种情况下，纯合的 11 bp 缺失，c。 C19orf12 中的 171_181delCGGGGGGCTGT 将诊断确定为 MPAN。我们还没有看到其他患者有这种情况的报道。有一种不同的突变 (C19orf12 p. Thr11Met)，这种突变在土耳其成年 MPAN 患者中很常见 [3,7,8]。 MPAN 的发病年龄通常为 4 至 20 岁，且进展速度通常比 PKAN 慢。该患者的脑部 MRI 显示双侧苍白球、黑质和红核中铁积聚，仅在 SWI 和 T2 加权图像上可见。文献中描述，在 T 2 加权图像上，MPAN 患者的苍白球内外之间的内侧髓质层有高信号条纹，可能被误认为“虎眼征”，导致 PKAN 的错误放射学诊断。此外，文献中称“内侧髓质层的高信号条纹”可能将 MPAN 与其他 NBIA 亚型区分开来。其次，MPAN 患者的晚期疾病中可能会出现皮质和小脑萎缩。但我们没有在我们的患者中观察到皮质或小脑萎缩 [9, 10]。
DiscussionNeurodegeneration with brain iron accumulation (NBIA) constitute a group of neurodegenerative disorders inherited as autosomal dominant, recessive or X-linked traits in which iron accumulates in the brain, resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. In this case, a homozygous 11 bp deletion, c. 171_181delCGGGGGGCTGT in C19orf12 identified the diagnosis as MPAN. We have not seen it reported in other patients. There is a different mutation (C19orf12 p. Thr11Met) which is frequent among adult Turkish patients with MPAN [3, 7, 8]. The onset of MPAN is typically between 4 and 20 years of age, and the progression is generally slower than PKAN. Brain MRI of our patient demonstrates iron accumulation in bilateral globus pallidus, substantia nigra, and red nucleus that were seen only on the SWI-and T2-weighted images. In the literature, it was described that, on T 2-weighted images MPAN patients have hyperintense streaking of the medial medullary lamina between the globus pallidus interna and externa that could be mistaken for an “eye-of-the-tiger sign”, leading to a wrong radiologic diagnosis of PKAN. Also, in the literature it was said that “hyperintense streaking of the medial medullary lamina” may discriminate MPAN from other NBIA subtypes. Secondly, cortical and cerebellar atrophy may be seen in more advanced disease in MPAN patients. But we did not observe cortical or cerebellar atrophy in our patient [9, 10].