Marfan Syndrome with Varieties of Clinical Features

Marfan Syndrome is an autosomal dominant disorder caused by mutation in the extracellular matrix protein fibrilin-1 gene located on chromosome 15. It has variable range of expression.We describe a case of a 12 year aged girl with positive family history including lean and thin body stature, skin striae, joint hyper mobility, high arched palate, mal occlusion of teeth, pectus excavatum, winging of scapula, scoliosis of back bone, total arm span more than total body height (1.11:1), lower segment greater than upper segment (1.40:1), severe form of mitral valve prolapse and aortic root dilatation. There are a lot of features of Marfan Syndrome in our single patient which is rare in earlier available case reports. J MEDICINE Jan 2018; 19 (1) : 58-62

rupture, and thus had an average life-expectancy of only 32 years. 1 Medical management may not reverse the features seen, but can reduce the progression and the severity of the symptoms.Beta blockers are considered as the standard therapy, as they work by reducing the aortic shear stress and the heart rate.Diagnosis is mainly done using the Ghent criteria and a detailed clinical examination. 3

Case Presentation:
Our index patient, 12 year aged girl, hailing from Bagerpara, Jessore, Bangladesh was admitted with the complaints of intermittent fever for 15 days and productive cough for same duration.On query, her mother stated that she had remained well up to 5 years of her age then she was growing up a little bit taller and thinner than other children of same age.There were occurring some abnormalities of her body shape with prominence of scapular region during supporting her hands.Her menarche started at the 9 th year of her age and it is now normal in flow and rate.She was immunized as per EPI schedule.Her mother looks lean and thin like our patient.Her father, two sisters and one brother have normal body shape.

Marfan Syndrome with Varieties of Clinical Features
GOUTAM KUMAR ACHERJYA, 1 KEYA TARAFDER, 2 MD.DIN UL ISLAM, 3 MAHABUBUR RAHMAN, 4 MOSTOFA KAMAL CHOWDHURY 5 and total height was 1.11: 1.Her lower segment length from pubic symphysis to heel was 90 cm and upper segment from vault to pubic symphysis was 64 cm.The ratio of lower segment to upper segment waas 1.40:1.Her cardiovascular system examination revealed that 1st and 2 nd heart sound appeared normal and presence of late systolic murmur in the left 3rd and 4 th intercostal space.Other systemic examination including eye were normal.Investigation findings of our patient are provided in

Discussion:
The classical view of Marfan pathogenesis is that mutant fibrillin-1 molecules alter microfibril assembly in a dominant-negative manner. 4The classical paradigm regards Marfan syndrome as the result of structural weakness of connective tissue.TGF-β represents a group of cytokines that control cellular proliferation, cell cycle arrest, differentiation, apoptosis and matrix deposition.Sequestration of TGF-β and control of its activation depends on binding of TGF-β to latent TGF-β binding proteins (LTBP), which in turn bind to fibrillin-rich microfibrils.A deficiency of fibrillin-1 therefore causes excess of active TGF-β, and studies on fibrillin-1-deficient mice documented increased activity of TGF-β, resulting in both inborn airspace enlargement and myxomatous cardiac valve disease.Moreover, both phenotypes were prevented by application of TGF-β neutralizing antibodies. 5Thus, pharmacological manipulation of TGF-β signaling may offer an option to treating Marfan syndrome and related disorders.
Marfan syndrome cannot be diagnosed by a single molecular test but requires a scoring system that combines various diagnostic items.The so-called Ghent nosology subdivides diagnostic features into "major criteria", "minor criteria", "organ involvement" and manifestations that only in combination with other manifestations constitute a "major" or "minor" criterion.Individuals without a family history of Marfan syndrome require major criteria in at least two different organ systems and involvement of a third organ system.Individuals carrying an FBN1 mutation known to cause Marfan syndrome or cases with a positive family history require one major criterion and involvement of an additional organ to establish Marfan syndrome. 6The classical standards imply: (1) counselling on lifestyle modification including moderate restriction of physical activity; (2) endocarditis prophylaxis; (3) serial imaging of the aorta; (4) β-blocker medication for aortic protection; and (5) prophylactic replacement of the aortic root. 7,8  index patient has positive family history with lean and thin body stature, skin striae, joint hyper mobility, high arched palate, mal occlusion of teeth, pectus carinatum, winging of scapula, scoliosis of back bone, total arm span more than total body height (1.11:1), lower segment greater than upper segment (1.40:1), severe form of mitral valve prolapse and aortic root dilatation.There are a lot of features of Marfan syndrome in our single patient which is rare in earlier case reports.
Consent: Parents of our patient gave informed written consent for publication of the case report and accompanying pictures.

Name of investigation Findings
Physical examination revealed that she looked lean and thin (Fig no. 1) with abnormal body shape.Her pulse was 96 beats/minute with normal rhythm and blood pressure 105/65 mm of Hg.She had malocclusion of teeth (Fig no.

Figure 1 :Figure 3 :
Figure 1: Lean and tall mother and our patient with long arm span