BMC Neurology (Oct 2022)

Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia—Occam’s razor or Hickam’s dictum: a case report

  • Paulo Ribeiro Nóbrega,
  • Francisco Bruno Santana da Costa,
  • Pedro Gustavo Barros Rodrigues,
  • Thais de Maria Frota Vasconcelos,
  • Danyela Martins Bezerra Soares,
  • Jéssica Silveira Araújo,
  • Daniel Aguiar Dias,
  • Manoel Alves Sobreira-Neto,
  • Anderson Rodrigues Brandão de Paiva,
  • Pedro Braga-Neto,
  • Fernando Kok,
  • Eveline Gadelha Pereira Fontenele

DOI
https://doi.org/10.1186/s12883-022-02912-x
Journal volume & issue
Vol. 22, no. 1
pp. 1 – 6

Abstract

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Abstract Background Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS increases the risk of autoimmune diseases, including Graves’ disease (GD). Moyamoya disease is a rare cerebral arteriopathy of unknown etiology characterized by progressive bilateral stenosis of the internal carotid artery and its branches. Both TS and GD have been associated with Moyamoya. Type 2 spinocerebellar ataxia (SCA2) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in ATXN2. We present the first case of Moyamoya syndrome in a patient with a previous diagnosis of TS and GD who tested positive for SCA2 and had imaging findings compatible with an overlap of SCA2 and Moyamoya. Case presentation A 43-year-old woman presented with mild gait imbalance for 2 years. Her family history was positive for type 2 spinocerebellar ataxia (SCA2). She had been diagnosed with Turner Syndrome (45,X) and Graves disease three years before. Brain MRI revealed bilateral frontal and parietal cystic encephalomalacia in watershed zones, atrophy of pons, middle cerebellar peduncles and cerebellum. MR angiography showed progressive stenosis of both internal carotid arteries with lenticulostriate collaterals, suggestive of Moya-Moya disease. Molecular analysis confirmed the diagnosis of SCA2. Conclusions With increased availability of tools for genetic diagnosis, physicians need to be aware of the possibility of a single patient presenting two or more rare diseases. This report underscores the modern dilemmas created by increasingly accurate imaging techniques and available and extensive genetic testing.

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