脑小囊性低成形9型:一个案例研究突出了独特的磁共振成像特征
Valentina Munera1, Verónica Jaramillo2, Brayan Muñoz-Caicedo1
1Department of Radiology, Universidad de Antioquia, Medellín, COL.
Cureus
|July 3, 2024
概括
9型脑小细胞低成形 (PCH9) 是一种罕见的神经发育障碍. 独特的大脑成像发现,比如八个配置的中脑,有助于诊断由AMPD2基因突变引起的PCH9.
科学领域:
- 神经发育遗传学 神经发育遗传学
- 儿科神经学 儿科神经学
- 罕见疾病研究研究.
背景情况:
- 脑小细胞低成形9型 (PCH9) 是一种自体逆向的神经发育障碍.
- 它是由AMPD2基因的突变引起的.
- 由于其稀有性,诊断具有挑战性,但对于管理至关重要.
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