Coarctation of aorta in a child with proteus syndrome.

摘要

Proteus syndrome is a rare, highly variable disorder with asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations [1]. The cause of this syndrome is unknown but it is thought to arise from a post-zygotic mutation event resulting in mosaicism [2]. Due to several overlapping features with other syndromes and frequent misdiagnosis of the syndrome in the literature; detailed diagnostic criteria have been proposed [1,3]. We report a child with Proteus syndrome with coexistent coarctation of aorta. A 10-y-old boy was admitted with a history of severe, continous headache of 2 d duration. On examination, hemi-hypertrophy of upper limb and presence of a linear epidermal nevus were observed, which had been present at birth but gradually increased to the present size (Fig. 1). Child also had systemic hypertension with differential blood pressure in limbs, and fundal changes of hypertension.