Early Initial Diagnosis of Gardner Syndrome in a 12-Year-Old Boy

doi:10.4236/act.2013.21001

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Advances in Computed Tomography, 2013, 2, 1-3

http://dx.doi.org/10.4236/act.2013.21001 Published Online March 2013 (http://www.scirp.org/journal/act)

Early Initial Diagnosis of Gardner Syndrome in a

12-Year-Old Boy

Erich Bryan, Peter Kalina

Mayo Clinic, Rochester, USA

Email: [email protected]

Received December 6, 2012; revised January 6, 2013; accepted January 16, 2013

ABSTRACT

A 12-year-old boy presented to his primary care physician with a painful lump at the angle of the left mandible after

being kicked in the jaw during a soccer game. Over the next 2 months the lesion became progressively firmer and fine

needle aspiration was attempted. Results were non-diagnostic. Panorex examination revealed a calcified mass contiguous

with the left angle of the mandible. Considerations were bony callus secondary to trauma versus a calcified hematoma.

A maxillofacial CT showed multiple diffuse craniofacial osseous lesions including the clin ically suspected reg ion at the

left angle of the mandible. Imaging findings were consistent with multiple craniofacial osteomas and workup for Gard-

ner Syndrome was initiated. Genetic testing was subsequently positive for Familial Adenomatous Polyposis.

Keywords: Gardner Syndrome; Osteoma

1. Introduction

Gardner Syndrome is a rare variant of Familial Adeno-

matous Polyposis (FAP) caused by a gene mutation on

chromosome 5 [1]. Gardner syndrome is defined as a

triad of intestinal polyps and extraintestinal manifesta-

tions including osteomas and tumors of the skin and soft

tissue. Incidence of Gardner syndrome is between 1 in

4000 and 1 in 12,000 [2]. A hereditary form of colonic

polyposis was described by Cripps in 1863. Gardner

syndrome was ultimately defined by Gardner in 1950

who later recognized the dental and skeletal abnormali-

ties of the disease [2]. The diagnosis portends significant

morbidity. Ninety percent of patients with Gardner Syn-

drome will have intestinal polyps which, in turn, have a

nearly one hundred percent chance of malignant trans-

formation. Prophylactic colectomy including rectal re-

section is recommended when patients have 30 or more

intestinal polyps [2]. Benign osteomas usually precede

the development of intestinal polyposis and soft tissue

tumors [1]. The following case report attempts to dem-

onstrate the importance of early detection of the disease

and how radiologists can aide in early detection with

knowledge of the extra-intestinal manifestations and their

presentat i on on imagi ng.

2. Case Report

A 12-year-old boy was kicked in the jaw during a soccer

game and presented to his primary care physician and

subsequently to an ear nose and throat specialist with

Figure 1. Clinical Photographs of the left mandibular angle

lesion.

E. BRYAN, P. KALINA

complaint of a painless lesion at the angle of the left

mandible that appeared to be getting progressively firmer

over a two month period (Figure 1). The left mandibular

angle lesion and multiple other similar lesions were con-

firmed on CT to be maxillofacial osteomas. Workup for

Gardner Syndrome was initiated and genetic testing was

positive.

3. Discussion

Gardner Syndrome is a variant of Familial Adenomatous

Polyposis. It is an early onset autosomal dominant ge-

netic that can affect both sexes. Intestinal polyps can

occur anywhere in the digestive tract, most commonly in

the colon. These po lyps must be completely removed du e

to the high rate of malignant degeneration [2]. The aver-

age age of diagnosis of intestinal polyps is 22 years

though they typically develop at about the time of pu-

berty. Progression to malignancy is typically seen be-

tween ages 30 to 60 years [3].

Extra-intestinal manifestations typically precede the

intestinal polyps and can include bone lesions (benign

osteomas), thyroid carcinoma, connective tissue tumors,

and pigmentation of the retina. Soft tissue tumors can

include neurofibromas, fibromas, keloids, sebaceous

cysts, leiomyomas, lipomas, and desmoid tumors [2].

Osteomas are benign tumors of compact bone that show

continuous osseous growth. They are required to make

the diagnosis of Gardner Syndrome. These tumors will

most frequently be seen involving the teeth, facial bones,

and cranium. These lesions are not commonly painful

and they are typically removed only for aesthetic reasons

or due to limitations in mandibular movement. A typical

location for an osteoma is at the angle of the mandible, as

in the case presented above [1].

Computed Tomography (CT) is often utilized as the

initial imaging modality for the evaluation of potential

maxillofacial disease processes. This is true for bo th soft

tissue disease such as such as inflammatory changes as

well as osseous abnormalities. CT is preferred due to its

increased availability, decreased cost and ability to pro-

vide excellent, often superior osseous detail. In our case,

a potential focal hematoma or mandibular lesion were

suspected due to the trauma history. For both of these

indications, CT would be the preferred modality.

This patient’s CT scans of the face (including coronal

and sagittal reformatted images) demonstrates multiple

maxillofacial osteomas including the area of palpable

abnormality over the angle of the left mandible where the

patient was kicked during his soccer game as well as a

large ethmoid lesion (Figures 2 and 3). 3D surface re-

formatted images confirm and further delineate the extent

of the osteomas (Figure 4). The association of multiple

maxillofacial osteomas with Gardner syndrome was rec-

Figure 2. Coronal and Sagittal CT showing left mandibular

angle osteoma.

Figure 3. Coronal and Sagittal CT showing mutiple addi-

tional craniofacial osteomas including a large ethmoid le-

sion.

Figure 4. 3D Reformatted CT showing left mandibular and

large ethmoid osteomas.

ognized and workup for the disease was initiated. The

patient’s genetic workup was positive for the variant of

Familial Adenomatous Polyposis (FAP). He was then

referred to the appropriate services for further screening

and management.

In conclusion benign osteomas usually precede the

development of intestinal polyposis and soft tissue tu-

mors [1]. Therefore, the radiologist and dentist can diag-

nose early Gardner Syndrome and help initiate workup

with genetics, gastroenterology, oncology, and oral/ma-

xillofacial surgery to hopefully prevent morbity and

E. BRYAN, P. KALINA

mortality associated with the disease.

REFERENCES

[1] A. B. Cankaya, M. A.Erdem, S. C. Isler, M. Cifter, V.

Olgac, C. Kasapoglu and C. K. Oral, “Oral and Maxillo-

facial Considerations in Gardner’s Syndrome,” Interna-

tional Journal of Medical Science, Vol. 9, No. 2, 2012, pp.

137-141.

[2] U. Bilkay, O. Erdem, C. Ozek, E. Helvaci, K. Kilic, Y.

Ertan and T. Gurler, “Benign Osteoma with Gardner Syn-

drome: Review of the Literature and Report of a Case,”

Journal of Craniofacial Surgery, Vol. 15, No. 3, 2004, pp.

506-509.

[3] M. Brucoli, M. Giarda and A. Benech, “Gardner Syn-

drome: Presurgical Planning and Surgical Management of

Craniomaxillofacial Osteomas,” Journal of Craniofacial

Surgery, Vol. 22, No. 3, 2011, pp. 946-948.