Blepharophimosis-ptosis-epiconthus inversus syndrome in a Pakistani pedigree

Blepharophimosis-ptosis-epicanthus inversus syndrome [BPES] is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations. A 2-year-old girl was brought to the clinic by her father for the correction of her shortened palpebral fissures. Examination findings were consistent with BPES. The girl's father, paternal grandfather and paternal aunt also had identical features. The distance between the medial canthi of the index case was 30 mm, and the lengths of vertical and horizontal palpebral fissure were 6 mm and 20 mm, respectively. BPES must be considered an important differential diagnosis in patients presenting with blepharoptosis and blepharophimosis

Successful treatment of early postinfarction massive ventricular septal rupture and cardiogenic shock

A 65 years old woman presented to the ER with vomiting and severe retro-sternal chest pain for twelve hours. She was extremely dyspneic with a respiratory rate of 32/min, heart rate of 120/min, blood pressure of 70/50 mmHg and 02 saturations of 91% on 15 liters by face mask. She had bilateral crepitations upto mid lung zones bilaterally and had pan systolic murmur and had cool extremities with no pedal pulses. ECG showed massive anterior ST elevation myocardial infarction. An emergent echocardiography showed dilated right ventricle, and a large ventricular septal rupture anteriorly with severely reduced LV function. Patient was intubated, taken to the cardiac catheterization lab. An IABP was placed and on angiography large ventricular septal rupture was identified along with complete LAD occlusion. Median sternotomy was performed and patient was placed on cardiopulmonary bypass. The anterior infracted portion was excised and large anterior VSD was identified. The edges were debrided and then a large 7.5 cm defect in the anterior interventricular septum was identified. A Dacron patch was sewn along the edges of the VSD with interrupted plegeteted ethibond sutures and then the free wall of the LV and RV were brought together with plegeted prolene sutures; thus sandwitching the patch and closing the ventricular free wall also. LAD was grafted with a vein graft. IABP was removed after 48 hours and the patient was extubated. The rest of the hospital stay was unremarkable and patient was discharged home in 10 days