Alsugair Faisal, Jadkareem Dalia, Alhazmi Rami, Alhaidey Ali
Department of Radiology and Nuclear Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Kingdom of Saudi Arabia.
Department of Medical Imaging, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.
Radiol Case Rep. 2020 Sep 15;15(11):2339-2342. doi: 10.1016/j.radcr.2020.09.005. eCollection 2020 Nov.
Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly. We describe hypogenesis of the corpus callosum and lissencephaly for the first time in this syndrome.
我们的病例是一名1岁女性,因胸部感染多次入院。鉴于其家族病史和高度的临床怀疑,诊断为格里塞利综合征和噬血细胞性淋巴组织细胞增生症。她的检查包括脑部核磁共振成像(MRI),结果显示弥漫性脑容量减少和胼胝体发育不全,伴有脑沟和脑回的弥漫性简化模式,符合无脑回畸形。我们首次在该综合征中描述了胼胝体发育不全和无脑回畸形。