PIK3CA-related overgrowth spectrum (PROS): a rare case report

Abstract

Case report.

Introduction and importance: The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum.

Case presentation: A 12-year-old boy presented with severe overgrowth in the left lower limb causing severe movement restriction and decreased quality of life.

Interventions and outcome: Episodes of myiasis were manually treated through mechanical removal and the patient was placed on rapamycin therapy for managing vascular malformations.

Conclusion: CLOVES syndrome is a rare overgrowth disorder that can be confused with other overgrowth syndromes; however, clinical and imaging findings are essential for pinpointing the correct diagnosis as genetic sequencing may not always prove reliable.

Keywords: CLOVES syndrome; PIK3CA-related overgrowth spectrum (PROS); case report; computed tomography angiography; magnetic resonance imaging (MRI).

Figure 1

Gross clinical findings. (A) Two congenital lipomatous masses in the trunk, one reaching the left buttock. (B) Severe overgrowth in the left lower limb with leg length discrepancy. (C) Epidermal nevi with capillary malformations. (D) Pectus excavatum deformity in the chest wall. (E) Sandal gap deformity.

Figure 2

X-ray and contrast-enhanced computed tomography findings. (A) Posteroanterior chest x-ray showing mild lateral scoliosis. (B) Axial view in the arterial phase showcasing two nonenhancing lipomatous masses in the trunk replacing the paraspinal muscles. (C) Maximum intensity projection view of the left foot showing sandal gap deformity with increased soft tissue density between the first and second toes. (D) Maximum intensity projection view of the lower limbs demonstrating the severe overgrowth with leg-length discrepancy of 5 cm. (E and F) Three-dimensional reconstruction of computed tomography angiography in the arterial phase showing arteriovenous fistulas with venous malformations and a superficial femoral vein aneurysm.

Figure 3

Nonenhanced MRI findings. (A) Axial plane showing two hyperintense lipomatous masses in the truncal area on T2-weighted image. (B and C) Sagittal planes highlight the fatty nature of the masses on T2-weighted and fat-suppressed images. (D and E) Coronal and axial planes demonstrating severe lymphedema and limb overgrowth on T2-weighted images. (F and G) Two-dimensional time-of-flight image showing the arteriovenous fistulas, and a three-dimensional fresh-blood-image using the hot-metal color map showing the venous malformations and the superficial vein aneurysm. (H) Axial plane illustrating the bilateral papilledema on a three-dimensional steady-state-free-precession image.