Endocrine Abstracts

Introduction

Marfan syndrome is a rare autosomal dominant genetic disease resulting from a mutation in the gene encoding type 1 fibrillin (FBN1), which is a glycoprotein in the composition of elastic fibers in connective tissue. It mainly affects the cardiovascular, musculoskeletal and ocular systems.

Case presentation

We report the case of a 14-year-old girl, with no particular history, referred to an endocrinology consultation for exploration of gigantism. At the clinical examination we immediately note her tall size: 185 cm which corresponds to more 3DS compared to the normal and to more 4 S.D. compared to the target size. Ligament hyperlaxity was objectified (wrist and thumb sign) associated with skeletal deformities such as pectus carinatum, arachnodactyly, hallux valgus of both feet, clawed toes and dorsal scoliosis. The hormonal tests shows an IGF1 level at 428 ng/ml (normal for the age and the pubertal stage (S4, P4)), in front of the strong suspicion of Marfan Syndrome a cardiac MRI was done, objectified a dilation of the sinus segment of the thoracic aorta, with a CMD on the left.

Discussion

marfan syndrome is the most likely diagnosis in front of a height increase associated with a dysmorphic syndrome, according to the criteria of GHENT (revised 2010): in the case of no family history of Marfan syndrome, the association of dilation of the ascending aorta to a systemic score b 7 (which = 9 in our patient) confirms the diagnosis.

Conclusion

Marfan syndrome is a disease that affects the connective tissue of several systems, hence the need for long-term multidisciplinary management in order to treat or even better prevent complications, specially cardiovascular complications.