J Korean Soc Radiol.  2014 Apr;70(4):307-311. 10.3348/jksr.2014.70.4.307.

Radiologic Features of Proteus Syndrome: A Case Report

• Kim OH

• KMID: 2041943
• DOI: http://doi.org/10.3348/jksr.2014.70.4.307

Abstract

Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations with overgrowth of various tissues. The author reports the case of a Proteus syndrome in a 14-year-old girl who had the unique features of this syndrome including megaspondylodysplasia with resultant scoliosis, leg discrepancy, macrodactyly, clinodactyly, hyperostosis in external auditory meatus, asymmetric megalencephaly, splenomegaly, cystic lung changes, asymmetric soft tissue fat infiltrations and a long, asymmetric face, with descriptions of the radiological features.

MeSH Terms

Adolescent
Female
Hamartoma
Humans
Hyperostosis
Leg
Lung
Proteus Syndrome*
Proteus*
Scoliosis
Splenomegaly

Figure

• 

  Fig. 1 Proteus syndrome in a 14-year-old girl. A-C. Whole spine anteroposterior (AP) (A), and cervicothoracic (B) and thoracolumar (C) spine lateral radiographs show asymmetric overgrowth of multiple vertebra with resultant scoliosis, lumbar hyperlordosis, and posterior scalloping of the thoracolumbar vertebral bodies (arrows). D. Skull AP radiograph shows multifocal calvarial thickening and the increased convolution. Overgrowths of the right sided mandible and cervical spines are also demonstrated. E. AP radiographs of right hand demonstrates uneven macrodactyly of the third and fourth right digits; clinodactyly of the second and fourth right digits; diffuse hypertrophy of the soft tissues with the associated hyperostosis (open arrow) and calcified soft tissue mass lesion (arrow) in the third right digit. F, G. AP radiograph of the lower extremity (F) shows asymmetric overgrowth of the right pelvic bone and femur, and bowing of the left femur, resulting in limb length discrepancy. AP radiograph of the left proximal tibia (G) shows the superficial serpentine soft tissue density in the left calf (arrows). H. Axial CT of the lower thorax demonstrates small cystic changes in the both lower lobes. I, J. Coronal (I) and axial (J) abdominal CT reveal marked splenomegaly, asymmetric fat infiltrations in the paraspinal muscles (arrows), and overgrowth of the thoracolumbar vertebra. K. Coronal T2-weighted images of the brain shows the right hemimegalencephaly with the cerebral cortical thickening (arrowheads) and the decreased sulcation, mainly in the right parietal lobe, and ipsilateral ventricular enlargement. Also, noted are mutifocal calvarial thickening and skull bossing (arrow).

Reference

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