Hassan Taha F, Morgan Ryan D, Psaromatis Kirie M, Baronia Benedicto C
School of Medicine, Texas Tech Health Sciences Center, Lubbock, TX, USA.
Department of Surgery, Texas Tech Health Sciences Center, University Medical Hospital, Lubbock, TX, USA.
Radiol Case Rep. 2024 Jan 17;19(4):1445-1451. doi: 10.1016/j.radcr.2023.12.052. eCollection 2024 Apr.
Under certain classifications, a Chiari type I (CMI) malformation can be characterized as a herniation of the cerebellar tonsils greater than 3 mm. Patients with CMI often have a smaller posterior fossa volume, which results in a smaller amount of space for the cerebellum, leading to the herniation of the cerebellar tonsils through the foramen magnum. Although inheritable factors such as posterior fossa volume can be traced to specific genes, there has not been a gene that can be attributed to directly causing CMI. However, several cases of CMI have exhibited a familial inheritance pattern. There are mixed findings regarding the exact nature of its inheritance, with some papers arguing in favor of an autosomal dominant pattern. In this case series, we detail a mother, father, and all 3 of their children diagnosed with CMI. Previous literature has not included both a mother and father with CMI.
在某些分类中，Chiari I型（CMI）畸形的特征可表现为小脑扁桃体疝出超过3毫米。CMI患者通常后颅窝容积较小，这导致小脑的空间变小，从而致使小脑扁桃体通过枕骨大孔疝出。尽管诸如后颅窝容积等可遗传因素可追溯到特定基因，但尚未发现可直接导致CMI的基因。然而，有几例CMI呈现出家族遗传模式。关于其遗传的确切性质存在不同的研究结果，一些论文支持常染色体显性模式。在本病例系列中，我们详细介绍了一位母亲、一位父亲以及他们所有3个被诊断为CMI的孩子。既往文献中尚未有父母双方均患有CMI的报道。
