1311 PHENOTYPIC HETEROGENEITY IN THE JEUNE SYNDROME

Abstract

Jeune syndrome (JS) is a rare autosomal recessive dysplasia which may present with asphyxiating thoracic dystrophy in the neonatal period or progressive renal or visual impairment in childhood and adolescence. Pathologic studies have shown cystic renal dysplasia and perlportal hepatic fibrosis in JS patients of all ages, but the incidence and clinical significance of these abnormalities is unknown because few surviving patients have been extensively evaluated. We report 7 patients with diagnostic radiologic findings of JS, 6 of whom were extensively evaluated. Patients 1, 2 & 3 presented as neonates, patients 4 & 5 in infancy and childhood and patients 6 & 7 as adolescents. Reasons for referral included: short stature (2), respiratory distress (2), renal disease (1), liver dysfunction (1) and incidental finding (1). Pts 4 & 7 were cl tnically well. Pts 1 & 2 had chronic pulmonary disease without clinical renal disease. Pt 6 had both chronic pulmonary disease and proteinuria. Pt 5 died of chronic renal failure. Both Pt 5 & 6 also had pigmentary retinopathy. Hepatic dysfunction occurred only in Pt 3; liver biopsy revealed fibrosis. These patients illustrate the multisystemic nature of JS and its variability in presentation. Although JS is classified as a skeletal dysplasia, its pleiotropic manifestations indicate a need for comprehensive evaluation in all patients with the disorder.