Moyamoya angiopathy in a case of Klinefelter syndrome.
Klinefelter syndrome
Moyamoya angiopathy
Moyamoya syndrome
Journal
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
ISSN: 1433-0350
Titre abrégé: Childs Nerv Syst
Pays: Germany
ID NLM: 8503227
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
received:
26
04
2021
accepted:
20
09
2021
pubmed:
11
10
2021
medline:
3
6
2022
entrez:
10
10
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34628529
doi: 10.1007/s00381-021-05371-w
pii: 10.1007/s00381-021-05371-w
doi:
Substances chimiques
RNF213 protein, human
EC 2.3.2.27
Ubiquitin-Protein Ligases
EC 2.3.2.27
Adenosine Triphosphatases
EC 3.6.1.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1195-1199Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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