Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report

BMC Research Notes

Toshiro Hara²  Hiroyuki Torisu²  Kenichiro Yamamura²  Hazumu Nagata²  Yoshito Ishizaki²  Michinobu Nagao³  Osamu Togao¹  Yasunari Sakai²  Yuki Matsushita²  Kiyoshi Uike² 

[1] Department of Clinical Radiology, Kyushu University, Fukuoka 812-8582, Japan;Department of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan;Department of Molecular Imaging and Diagnosis, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan

关键词: Magnetic resonance imaging (MRI);    Vascular phenotypes;    Transforming growth factor-beta receptor 2 (TGFBR2);    Loeys–Dietz syndrome;   

Others  :  1140870
DOI  :  10.1186/1756-0500-6-456

 received in 2013-08-16, accepted in 2013-11-08,  发布年份 2013

【 摘 要 】

Background

Loeys–Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2).

Case presentation

We report a 7-year-old Japanese boy with Loeys–Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries.

Conclusion

This study depicts the systemic vascular phenotypes of a child with Loeys–Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys–Dietz syndrome.

【 授权许可】

   
2013 Uike et al.; licensee BioMed Central Ltd.

【 图 表 】

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