Abstract Ref Number = APCP841
A RARE CASE 13 YEARS OLD BOY WITH MARFAN SYNDROME
UNSRIRSMH Department of Child Health, Faculty of Medicine Sriwijaya University Mohammad Hoesin Hospital
Background : Marfan syndrome is an autosomal dominant disorder of the connective tissue. Worldwide incidence of Marfan Syndrome is approximately 2-3 persons per 10,000, both sexes affected equally. The diagnosis of Marfan syndrome should be made according to the revised Ghent nosology diagnostic criteria. which involved minimum of four major and one minor diagnostic findings. The aim of this case report is to describe delayed diagnosis of Marfan syndrome.
Case Presentation Summary : Thirteen years old boys come with main complain of appearing peculiarly taller than his friends. He had previously underwent surgeries twice for ectopia lentis of both eyes, however, presence of Marfan syndrome failed to be detected. General examination revealed that he has dysmorphic features that met the mayor Ghent criteria including ectopia lentis, elongated fingers and toes (arachnodactily), “wrist sign”, “thumb sign”, pectus exavatum, reduced upper to lower segment ratio (0.8), increased ratio of arm span to height (1.2), and flat feet. Puberty status is G3P3. Radiological findings include scoliosis, protrusio acetabuli, calcaneal spurs, and an elangatio aorta. Dilatation of aortic root was found on echocardiography. Patient was also complained hearing impairment and was planned for brainstem evoked response audiometry.
Learning Points/Discussion : In children with with appearance of ectopia lentis, tall stature and disproportionate extremities, diagnosis of Marfan syndrome should be suspected and compatibility with Ghent criteria should be checked. Long term management and monitoring are needed for better prognosis.
Keywords: Marfan’s Syndrome Ghent Criteria child