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

Autor: Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., da Costa FBS; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., Rodrigues PGB; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., de Maria Frota Vasconcelos T; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., Soares DMB; Center of Health Sciences, Ceará State University, Fortaleza, Brazil., Araújo JS; Division of Endocrinology and Metabology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Dias DA; Division of Radiology, Federal University of Ceará, Fortaleza, Brazil., Sobreira-Neto MA; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., de Paiva ARB; Department of Neurology, São Rafael Hospital, Rede D'Or São Luiz, Salvador, Brazil.; Department of Neurology, Clinics Hospital of the University of São Paulo Medical School, São Paulo, Brazil., Braga-Neto P; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil. pbraganeto@ufc.br.; Center of Health Sciences, Ceará State University, Fortaleza, Brazil. pbraganeto@ufc.br., Kok F; Department of Neurology, Clinics Hospital of the University of São Paulo Medical School, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., Fontenele EGP; Division of Endocrinology and Metabology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.
Jazyk: angličtina
Zdroj: BMC neurology [BMC Neurol] 2022 Oct 08; Vol. 22 (1), pp. 381. Date of Electronic Publication: 2022 Oct 08.
DOI: 10.1186/s12883-022-02912-x
Abstrakt: 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.
(© 2022. The Author(s).)
Databáze: MEDLINE
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