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CASE REPORT article
Front. Pediatr.
Sec. Pediatric Orthopedics
Volume 13 - 2025 | doi: 10.3389/fped.2025.1568806
Proteus Syndrome with Late Diagnosis Confirmation: a Case Report
Provisionally accepted- 1Vilnius University Children's Hospital, Vilnius, Lithuania
- 2Vilnius University, Vilnius, Vilnius, Lithuania
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Proteus syndrome (PS) is a rare, highly polymorphous and complex disorder characterized by assymetric and/or disproportional overgrowth of limbs, hamartomas and vascular deformations (1). Typically, the first signs of PS appear between 6 and 18 months of age, are subtle and might be overlooked.We report a case of a 17 year old boy which was first diagnozed with PS after left limb amputation in 2021 (age of 14), though retrospectively the first signs of left hand enlargement appeared at 18 months. At the age of 3 years vascular surgery of venous malformation on his left leg was performed, molecular genetic tests from blood revealed no abnormalities. At the time Klipper-Trenaunay syndrome was diagnosed according to clinical criteria. In 2021 whole exome sequencing (WES) confirmed the diagnosis of PS after the test of affected tissues after amputation.We review the role of multidisciplinary approach implicating different physicians, role of radiologist with the multiple findings in this rare pathology with high variability of clinical presentation. Considering the complications and early mortality (up to 27 years old) observed in patients we emphasizet he significance of early suspicion and diagnosis of PS and the need for symptomatic multidisciplinary team follow-up which aims to minimize the degree of disability, prophylaxis of thrombembolic events and improve quality of life.
Keywords: Proteus Syndrome, whole exome sequencing, AKT1, Tissue overgrowth, vascular malformation, Difficult airway management
Received: 30 Jan 2025; Accepted: 15 Apr 2025.
Copyright: © 2025 Dockienė, Zagorskis, Kontrimavičiūtė and Čiuplinskas. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Martynas Čiuplinskas, Vilnius University, Vilnius, LT-01513, Vilnius, Lithuania
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