Abstract

P 022

High clinical variability of Marfan syndrome (MFS)

Schnaidt A. G., Seitz B., Käsmann-Kellner B.
Pediatric and Neuroophthalmology, Orthoptic and Low Vision Department of Ophthalmology, University Hospital of Saarland, Homburg/Saar

Objective: The Marfan syndrome (OMIM 154700, chromosome 15q21.1) is a general disorder of fibrous connective tissue. It shows some typical symptoms concerning the skeletal system such as scoliosis, anterior chest deformity, joint laxity and disproportionately long digits. Mitral regurgitation and aortic dissection are the major cardiovascular features while myopia, subluxation of the lense (ectopia lentis) and retinal detachment represent the most frequent ocular findings. Aim of our study was to give an overview of the clinical degree of variability of the Marfan Syndrome.
Methods: 10 patients with Marfan syndrome were examined in our department of Pediatric and Neuroophthalmology during the last 3 years. Further examinations were performed by paediatrics, by orthopaedists and at the heart-thoracic surgery department. In 2 patients the initial diagnosis of Marfan Syndrome was made in our department.
Results: Mean age of the examined patients was 12.6±9.1 years. 3 patients had a positive family history. 4 patients showed a subluxation of the lense, 2 of them needed surgical intervention. Myopia magna (< -6.0 dpt) was diagnosed in 2 patients. One patient presented with a juvenile primary open-angle glaucoma, caused by a dysgenesis of the chamber angle. Disproportionately long digits were found in 3 patients. 2 Patients exhibited disorders of the skeletal system and of the anterior chest. 4 patients suffered from cardiac disorders and aortic dissection. The symptoms showed a high variability. There was no homogenous clinical picture to be made out of our examined group.
Conclusions: The patients who were examined in our department showed a high variability of the extremely rare Mafan syndrome. For eye doctors it may be difficult to establish the initial diagnosis. Efficient survey of family history, accurate clinical diagnostics and a close interdisciplinary cooperation is very important. Especially for children, a rapid diagnostics of disorders of the heart and of the aorta may be life decisive.

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