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Moyamoya angiopathy in a case of Klinefelter syndrome
Ritwik Ghosh1, Shambaditya Das2, Dipayan Roy3,4
1Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, West Bengal, India.
Abstract:
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.
Insights
This case highlights a rare association between moyamoya angiopathy and Klinefelter syndrome in a young male. Delayed diagnosis in this unique case underscores the need for increased awareness and expertise in managing rare cerebrovascular conditions.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Moyamoya angiopathy is a rare cerebrovascular condition with primary (moyamoya disease) and secondary (moyamoya syndrome) forms.
- Genetic factors like RNF213 are linked to moyamoya disease, but X-linked forms and associations with hypogonadism are uncommon.
- Klinefelter syndrome (47,XXY) is a genetic condition affecting males, typically associated with hypogonadism.
Observation:
- A 14-year-old boy presented with transient hemiparesis, seizures, and cognitive decline.
- Brain imaging revealed characteristic findings of moyamoya angiopathy, including arterial narrowing and collateral formation.
- Laboratory and karyotyping confirmed Klinefelter syndrome.
Findings:
- This report details a unique case of moyamoya angiopathy co-occurring with Klinefelter syndrome.
- The patient's history included cryptorchidism and misdiagnosed neurological symptoms.
- Socio-economic factors and lack of awareness contributed to diagnostic delays.
Implications:
- This case emphasizes the importance of considering rare genetic syndromes in patients with unexplained cerebrovascular symptoms.
- Increased awareness and diagnostic expertise are crucial for timely management of moyamoya angiopathy, especially in syndromic cases.
- Further research may elucidate potential shared pathways or risk factors between moyamoya angiopathy and Klinefelter syndrome.
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