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Moyamoya angiopathy in a case of Klinefelter syndrome.
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.
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