Literature DB >> 20940508

[Dissecting aneurysm of the anterior cerebral artery with Rubinstein-Taybi syndrome--a case report].

Shunsuke Ishizaka1, Gouhei Sou, Youichi Morofuji, Kentaro Hayashi, Naoki Kitagawa, Youhei Tateishi, Minoru Morikawa, Kazuhiko Suyama, Izumi Nagata.   

Abstract

UNLABELLED: The Rubinstein-Taybi syndrome (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation. RTS displays an autosomal dominant inheritance pattern and is typically caused by cAMP response element-binding (CREB)-binding protein deficiency. Various complications such as eye anomalies and a variety of congenital heart defects are reported in such cases. We treated an RTS patient who had a dissecting aneurysm of the anterior cerebral artery. The patient was a 44-year-old man who was brought to our hospital because of sudden left hemiplegia. Magnetic resonance images showed a cerebral infarction caused by anterior cerebral artery dissection. Coil embolization was performed on enlargement of the dissecting aneurysm, and the procedure was successful.
CONCLUSION: RTS may be accompanied by cerebrovascular disease.

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Mesh:

Year:  2010        PMID: 20940508

Source DB:  PubMed          Journal:  Brain Nerve        ISSN: 1881-6096


  5 in total

1.  Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome.

Authors:  S Fischer; H Bäzner; H Henkes
Journal:  Clin Neuroradiol       Date:  2011-09-20       Impact factor: 3.649

2.  Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report.

Authors:  Yasamin Olyaei; J Manuel Sarmiento; Serguei I Bannykh; Doniel Drazin; Robert T Naruse; Wesley King
Journal:  Cureus       Date:  2017-04-11

Review 3.  Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Authors:  Silvia Spena; Cristina Gervasini; Donatella Milani
Journal:  J Pediatr Genet       Date:  2015-09-28

Review 4.  Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Authors:  Donatella Milani; Francesca Maria Paola Manzoni; Lidia Pezzani; Paola Ajmone; Cristina Gervasini; Francesca Menni; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2015-01-20       Impact factor: 2.638

5.  Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Authors:  Jong Eun Park; Eunmi Kim; Dong-Won Lee; Taek Kyu Park; Min Sun Kim; Shin Yi Jang; Jaemyung Ahn; Kwang Bo Park; Keon-Ha Kim; Hae-Chul Park; Chang-Seok Ki; Duk-Kyung Kim
Journal:  Sci Rep       Date:  2021-08-05       Impact factor: 4.379

  5 in total

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