Khandelwal Shreya, Dhande Rajasbala, Gowda Harshith, Mishra Gaurav, Khandelwal Ramesh
Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Radiodiagnosis, Khandelwal Diagnostic Center, Dhamtri, IND.
Cureus. 2023 Jun 5;15(6):e39969. doi: 10.7759/cureus.39969. eCollection 2023 Jun.
Rhombencephalosynapsis is an exceptionally uncommon cerebellar anomaly characterized by the absence or underdevelopment of vermal axons, the presence of dentate nuclei, and the fusion of cerebral hemispheres. Depending on the presence or absence of additional supratentorial anomalies, the prognosis and clinical appearance can vary widely. Here, we present the case of a consanguineous-parent newborn boy, aged four days, who was diagnosed with the use of an MRI. The child had spastic diplegia, bone anomalies, and facial dysmorphism. Slight hydrocephalus, hypogenesis of the corpus callosum, and agenesis of the septum pellucidum were some of the additional supratentorial abnormalities. This study details the clinical and MRI findings, as well as a possible etiology, of this illness.
菱脑融合是一种极为罕见的小脑异常，其特征为蚓部轴突缺失或发育不全、齿状核存在以及大脑半球融合。根据是否存在其他幕上异常，预后和临床表现可能差异很大。在此，我们报告一例近亲结婚的4日龄男婴病例，该病例通过磁共振成像（MRI）确诊。患儿患有痉挛性双侧瘫、骨骼异常和面部畸形。轻度脑积水、胼胝体发育不全和透明隔缺如为部分其他幕上异常。本研究详细阐述了该疾病的临床和MRI表现以及可能的病因。
