Hajihashemi Ali, Geravandi Mahsa
Department of Radiology, Isfahan University of Medical Sciences, Hezar Jerib Ave, Isfahan, Iran.
Radiol Case Rep. 2023 Aug 26;18(11):3908-3911. doi: 10.1016/j.radcr.2023.08.009. eCollection 2023 Nov.
Unilateral cerebellar hypoplasia is a rare neurological condition that affects the development of the cerebellum, causing symptoms like poor coordination, balance issues, tremors, and speech problems. Unilateral cerebellar hypoplasia can occur as an isolated finding or as part of a larger neurological disorder or hereditary disease. There have been rare recorded instances where patients with chronic granulomatosis disease have been found to have neurological symptoms, such as brain abscesses or persistent inflammation, even though that CGD primarily affects the immune system and causes recurrent infections. A 9-year-old male with a known diagnosis of CGD presented to our neurology outpatient department with complaints of frequent falls and speech abnormalities. His parents described suspicious seizure-like movements and poor scholarly performance. Neurologic examination showed ataxic gait, slurred speech, and right-sided plantar extensor reflex. Initial laboratory findings were normal. MRI revealed marked reduced volume of the left cerebellar hemisphere with intact vermis and asymmetry of the posterior fossa. The residual left cerebellar hemisphere showed a normal folia and gray-white matter differentiation pattern. CSF filled the space created by the left hypoplastic cerebellum. A diagnosis of unilateral cerebellar hypoplasia was made. There is no known direct association between chronic granulomatous disease and unilateral cerebellar hypoplasia. However, more research is required to discover whether there is any connection between them. Although it is possible for a child to have CGD and UCH, managing such cases requires a multidisciplinary approach involving neurologists, immunologists, and other specialists to provide appropriate care and treatment.
单侧小脑发育不全是一种罕见的神经系统疾病，会影响小脑的发育，导致协调能力差、平衡问题、震颤和言语问题等症状。单侧小脑发育不全可能是孤立出现的，也可能是更广泛的神经系统疾病或遗传性疾病的一部分。有罕见的记录表明，慢性肉芽肿病患者虽主要影响免疫系统并导致反复感染，但也出现了如脑脓肿或持续性炎症等神经系统症状。一名已知患有慢性肉芽肿病的9岁男性因频繁跌倒和言语异常到我们的神经科门诊就诊。他的父母描述了疑似癫痫样的动作和学业成绩不佳的情况。神经系统检查显示共济失调步态、言语含糊不清和右侧跖伸反射。初步实验室检查结果正常。磁共振成像显示左小脑半球体积明显减小，蚓部正常，后颅窝不对称。残留的左小脑半球显示正常的小叶和灰白质分化模式。脑脊液填充了由左侧发育不全的小脑所形成的空间。诊断为单侧小脑发育不全。慢性肉芽肿病与单侧小脑发育不全之间尚无已知的直接关联。然而，需要更多研究来发现它们之间是否存在任何联系。虽然儿童有可能同时患有慢性肉芽肿病和单侧小脑发育不全，但处理这类病例需要多学科方法，涉及神经科医生、免疫科医生和其他专家，以提供适当的护理和治疗。
