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Abstract
ABSTRACT
Marfan’s syndrome comprises disorders caused by an inherited genetic defect of the connective tissue. It manifests itself mainly by cardiovascular, ophthalmic, and musculoskeletal disorders. We report the case of a toddler aged 2 years 10 months brought to consultation for a thoracic deformity noted since birth. She presented with a multitude of progressively evolving signs. Marfan's syndrome was diagnosed based on significant dilatation of the ascending aorta, amblyopia with bilateral lens ectopia, and a systemic score of 11/20. Marfan’s syndrome may be diagnosed without genetic testing. The major signs should be warning signs that would initiate a multidisciplinary approach for early diagnosis.
RÉSUMÉ
Le syndrome de Marfan est un ensemble de troubles causés par une anomalie génétique héréditaire du tissu conjonctif qui se manifeste principalement par des atteintes cardiovasculaires, ophtalmiques et musculo-squelettiques. Nous rapportons le cas d’une fillette de 2ans et 10 mois amenés en consultation pour une déformation thoracique constatée depuis la naissance. Elle présentait une multitude de signes évoluant progressivement. Le diagnostic de syndrome de Marfan a été posé devant dilatation importante de l’aorte ascendante, une amblyopie sur ectopie cristallinienne bilatérale et un score systémique de 11 sur 20 regroupé dans le score révisé de Ghent. Il existe des possibilités de diagnostic de syndrome de Marfan sans tests génétiques. Les signes majeurs devraient être des signes d’alerte qui initieraient une approche multidisciplinaire pour un diagnostic précoce.
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References
- Chiu H-H, Wu M-H, Chen H-C, Kao F-Y, Huang S-K. Epidemiological profile of Marfan syndrome in a general population: a national database study. Mayo Clin Proc. Jan 2014;89(1):34-42.
- Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. Jul 2010;47(7):476-85.
- Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, et al. Prevalence, incidence, and age at diagnosis in Marfan Syndrome. Orphanet J Rare Dis. 2 Dec 2015;10:153.
- Chiu H-H, Wu M-H, Chen H-C, Kao F-Y, Huang S-K. Epidemiological profile of Marfan syndrome in a general population: a national database study. Mayo Clin Proc. Jan 2014;89(1):34-42.
- Jingi A. Aortic dissection in Marfan syndrome. Afr Surg Spec Rev. 1 Dec 2016;
- Marfan's syndrome: case report and literature review | East African Medical Journal .
- Ekure EN, Onakoya AO, Oke DA. Marfan Syndrome: A Study of a Nigerian Family and Review of Current Cardiovascular Management. West Afr J Med .
References
Chiu H-H, Wu M-H, Chen H-C, Kao F-Y, Huang S-K. Epidemiological profile of Marfan syndrome in a general population: a national database study. Mayo Clin Proc. Jan 2014;89(1):34-42.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. Jul 2010;47(7):476-85.
Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, et al. Prevalence, incidence, and age at diagnosis in Marfan Syndrome. Orphanet J Rare Dis. 2 Dec 2015;10:153.
Chiu H-H, Wu M-H, Chen H-C, Kao F-Y, Huang S-K. Epidemiological profile of Marfan syndrome in a general population: a national database study. Mayo Clin Proc. Jan 2014;89(1):34-42.
Jingi A. Aortic dissection in Marfan syndrome. Afr Surg Spec Rev. 1 Dec 2016;
Marfan's syndrome: case report and literature review | East African Medical Journal .
Ekure EN, Onakoya AO, Oke DA. Marfan Syndrome: A Study of a Nigerian Family and Review of Current Cardiovascular Management. West Afr J Med .