Giant pseudomeningocele causing urinary obstruction in a patient with Marfan syndrome

Fecalith Causing Intestinal Obstruction in a Patient with Seckel Syndrome

Helmut Seckel described Seckel syndrome (SS) which is an autosomal recessive disorder and characterized by cleft lip and palate, club foot, scoliosis, gastrointestinal malformations, and multiple skeletal malformations.[1,2] Other accompanying anomalies are severe microcephaly, craniofacial dysmorphism with characteristic bird headed appearance, prominent beaked triangular nose, micrognathia, v...

Hypercoagulability in a patient with Marfan syndrome.

A 39 year old man with Marfan syndrome presented with multiple pulmonary emboli and renal, hepatic, and splenic infarcts of unknown aetiology. The combination of thromboemboli and physical features initially suggested homocystinuria; however, laboratory examination showed no evidence for this disorder. Laboratory evaluation identified no coagulation abnormalities. This patient represents the un...

Tracheal obstruction caused by innominate artery pseudoaneurysm in a repeat surgical patient with Marfan syndrome

Giant Pulmonary Artery Aneurysm in a Patient With Marfan Syndrome and Pulmonary Hypertension.

Case Presentation This is a 58-year-old woman with Marfan syndrome, FBN1 mutation c.6423delG, who, in 2004, was found to have a dilated main pulmonary artery (MPA) on chest x-ray performed for cough and wheezing. The MPA was 4.9 cm on computed tomographic angiogram; mean pulmonary artery (PA) pressure was 33 mm Hg on right heart catheterization. Transthoracic echocardiogram showed a right ventr...

Marfan syndrome with a giant noncoronary sinus of Valsalva aneurysm

Once presented in 2011 by Dayi SU et al. our case is a 30-year-old woman with Marfan syndrome who had undergone aortic valve replacement due to severe aortic regurgitation secondary to dilatation of the aortic root in 2000 and supracoronary aortic replacement due to Stanford type A dissection in 2002 with subsequent dilatation of sinus of Valsalva. When described by Dayi SU et al. the size of t...