Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN
Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN
复制标题
儿童期苍白球和黑质短暂肿胀提示 SENDA/BPAN
作者：
A. Ishiyama;Y. Kimura;A. Iida;Yoshihiko Saito;Yusaku Miyamoto;M. Okada;N. Sato;I. Nishino;M. Sasaki
儿童静止性脑病伴成年期神经变性（SENDA）或β-螺旋桨蛋白相关神经变性（BPAN）是神经变性伴脑铁蓄积（NBIA）的一种亚型，通过WDR 45突变引起的自噬功能障碍导致苍白球和黑质中异常铁蓄积。1，2. SENDA/BPAN通常难以诊断，因为脑MRI不能发现儿童期的特征性表现。我们发现在儿童时期由于感染引起的苍白球和黑质的短暂高信号和肿胀是特征性的发现。
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) or β-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA), causing abnormal iron accumulation in the globus pallidus and substantia nigra through autophagic dysfunction due to WDR45 mutations.1,2 SENDA/BPAN is often difficult to diagnose because brain MRI does not detect the characteristic findings in childhood. We found transient hyperintensity and swelling in the globus pallidus and substantia nigra due to infections during childhood as characteristic findings.
影响因子：
9.8
作者：
Haack, Tobias B.;Hogarth, Penelope;Hayflick, Susan J.
通讯作者：
Hayflick, Susan J.