Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, West Bengal, India.
Department of Neuromedicine, Institute of Post Graduate Medical Education & Research, Bangur Institute of Neurosciences, Kolkata, India.
Childs Nerv Syst. 2022 Jun;38(6):1195-1199. doi: 10.1007/s00381-021-05371-w. Epub 2021 Oct 10.
Moyamoya angiopathy, a rare cerebrovascular condition, can be primary (moyamoya disease) or secondary (moyamoya syndrome). Genetic factors, such as the ring finger protein 213 (RNF213), have been associated with moyamoya disease. However, X-linked moyamoya angiopathy/moyamoya syndrome and hypergonadotropic hypogonadism associated with moyamoya syndrome are rare. We report a case of a 14-year-old boy who presented with transient bilateral hemiparesis, recurrent seizures and cognitive decline. He previously had surgery for left-sided cryptorchidism and had been diagnosed with "epileptic attacks" or "functional movement disorders" in previous hospital admissions. Magnetic resonance angiography of the brain showed narrowing of supraclinoid portion of internal carotid arteries, as well as of middle and anterior cerebral arteries, and the presence of multiple collaterals. These findings were suggestive of moyamoya angiopathy. Laboratory investigations and karyotyping revealed a diagnosis of Klinefelter syndrome. This case presents a unique association of moyamoya angiopathy and Klinefelter syndrome in a boy from a poor socio-economic background, where the diagnosis and adequate treatment were delayed due to a lack of awareness and expertise.
烟雾病，一种罕见的脑血管疾病，可以是原发性（烟雾病）或继发性（烟雾病综合征）。遗传因素，如环指蛋白 213（RNF213），与烟雾病有关。然而，X 连锁烟雾病/烟雾病综合征和与烟雾病综合征相关的高促性腺激素性性腺功能减退症较为罕见。我们报告了一例 14 岁男孩，他表现为短暂性双侧偏瘫、反复癫痫发作和认知能力下降。他之前曾因左侧隐睾症接受过手术，并在之前的住院期间被诊断为“癫痫发作”或“功能性运动障碍”。脑部磁共振血管造影显示颈内动脉虹吸段、大脑中动脉和大脑前动脉狭窄，以及多个侧支循环形成。这些发现提示烟雾病。实验室检查和染色体核型分析提示克氏综合征的诊断。本例为来自贫困社会经济背景的男孩中烟雾病和克氏综合征的独特关联，由于缺乏认识和专业知识，导致诊断和充分治疗延迟。
