Classroom to Clinics

Classroom to Clinics Program

We at SAMSA believe that in order to truly help others, it is essential that we ourselves are not only knowledgeable but also are able to correlate all the textual knowledge in our clinical practices.

Thus Classroom to Clinics program was born.

Under the expert guidance of a panel of faculty members, we have high hopes for this program to give rise to skilled doctors in the days to come.

Case of the Week

Case Briefing

An 11 year old female child ,presented to the EYE OPD with complaints of blurring of vision and uniocular diplopia in both eyes. Her vision was 1/60 in both eyes. On Slit lamp examination the following image was seen. She was also found to have abnormally long arms and hands; also undergoing treatment in the Cardiology Department.

1.What is your provisional diagnosis?

2.Comment on the syndromic association in this condition.

3.What is the pathophysiology of this disease?

1.) This is probably a case of Marfan's syndrome. This can be deduced from the presence of long arms and hands and also attending Cardiology OPD probably due to underlying aortic aneurysm or mitral incompetence

2.) The clinical problems in Marfan's syndrome include aortic root dilatation and dissection, which is the most common cause of early patient death. It is also related to occurence of mitral regurgitation due to valve prolapse. Skeletal deformities such as thoracolumbar scoliosis, thoracic lordosis, and pectus excavatum; may lead to pulmonary difficulties that include restrictive airway disease and cor pulmonale if the deformities are progressive and untreated. Finally, blindness may result from unrecognized and untreated glaucoma, retinal detachment, and cataracts.

3.) Marfan's syndrome is an autosomal dominant disorder caused due to defect in FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin, a glycoprotein that is the main constituent of the microfibrils of the extracellular matrix. Reduced or abnormal fibrillin-1 leads to tissue weakness, increased transforming growth factor beta signaling, loss of cell-matrix interactions, and, finally, to the different phenotypic manifestations of Marfan syndrome.


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