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Case Reports
. 2012 Sep;85(1017):e793-9.
doi: 10.1259/bjr/92343528. Epub 2012 Apr 18.

Imaging manifestations in Proteus syndrome: an unusual multisystem developmental disorder

M J Kaduthodil  1 , D S Prasad, A S Lowe, A S Punekar, S Yeung, C L Kay
Affiliations
Case Reports

Imaging manifestations in Proteus syndrome: an unusual multisystem developmental disorder

M J Kaduthodil et al. Br J Radiol. 2012 Sep.

Abstract

In this review we use images from an 11-year-old male to describe Proteus syndrome, a complex disorder with multisystem involvement and great clinical variability. Our aim is to enhance recognition of the typical imaging findings, which can aid diagnosis of this rare condition.

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Figures

Figure 1
Figure 1
Subcutaneous fat hypertrophy on the left anterior chest wall (arrow).
Figure 2
Figure 2
Asymmetrical atrophy of the left gluteal muscles with fatty infiltration (arrow).
Figure 3
Figure 3
Loss of T4 vertebral body height (arrow).
Figure 4
Figure 4
Kyphoscoliosis of the upper thoracic vertebrae (arrow) (axial CT bone windows).
Figure 5
Figure 5
Lateral X-ray of the foot in an 11-year-old male, demonstrating soft tissue overgrowth in keeping with plantar cerebriform connective tissue naevus. The metatarsals are osteopenic, gracile and overtubulated with widened joint spaces. Degenerative changes from the gross deformities are noted in the tibiocalcaneal joint.
Figure 6
Figure 6
Anteroposterior view demonstrates absence of distal end of the first metatarsal distal phalanx (arrow).
Figure 7
Figure 7
Ectactic confluence of splenic (central arrow) and portal vein (arrow to the left of the image) with varicosities at the hila (axial CT, post-contrast portal venous phase).
Figure 8
Figure 8
Transverse ultrasound images through right forearm demonstrating enlarged peripheral veins with thrombus (arrows) within.
Figure 9
Figure 9
Inferior vena cava (arrow); Figures 10–14 show interval imaging on the same patient, demonstrating progression of the vascular abnormalities.
Figure 10
Figure 10
Dilated superior mesenteric vein (arrow).
Figure 11
Figure 11
Subcutaneous collateral vessels (arrows).
Figure 12
Figure 12
Gross aneurysmal enlargement of the inferior vena cava (lower arrow to the left of the image) and internal mammary vessels (upper arrow to the right of the image).
Figure 13
Figure 13
Superior mesenteric vein (arrow).
Figure 14
Figure 14
Enlarged subcutaneous collateral vessels (arrows).
Figure 15
Figure 15
Massive splenomegaly (30 cm) with multiple splenic cysts (arrows), some of which have soft tissue components within. Coronal, axial and sagittal post-contrast CT images.
Figure 16
Figure 16
Peritoneal lymphatic nodules (arrowheads). Coronal, axial and sagittal post-contrast CT images.
Figure 17
Figure 17
Multiple nodules around the bladder dome (arrow) creating spurious appearance of nodular bladder wall thickening. Coronal, axial and sagittal post-contrast CT images.
Figure 18
Figure 18
Emphysematous changes with bullae formation (arrow). Axial CT, lung windows.
Figure 19
Figure 19
Extensive bibasal consolidation (arrows). This has not been reported as a common finding. The patient was admitted with non-specific abdominal pain and there were no clinical or biochemical features to suggest pneumonia. Axial CT, lung windows.
Figure 20
Figure 20
Asymmetrical calvarial thickening (vertical arrow) and arteriovenous malformation (horizontal arrow). MRI image, axial T2, repetition time 5700 ms, echo time 98 ms.
Figure 21
Figure 21
Asymmetry of the cerebral hemispheres and lateral ventricles with abnormal grey–white matter differentiation (arrow) and areas of macrogyria in the left cerebral hemisphere. MRI image, axial T2, repetition time 5700 ms, echo time 98 ms.
See this image and copyright information in PMC

References

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