Case No. :	51
Month :	March
Year :	2003
Contributor :	Dr.Anand Gaikwad.

Other Cases

A 21 year- old- male presented with history of generalised tonic/clonic convulsions associated with intense headache & generalised weakness. There was also history of intermittent bloody, painless diarrhea for the past two years. The patient had had similar episodes of convulsions twice at an interval of 1 month in the past three months.

There was no history of vomiting, recurrent sinusitis or altered vision.

On examination, the patient had multiple soft to firm swellings of varying sizes all over body. These had been present since childhood. The swelling over forehead was hard and fixed to the underlying bone. Neurological examination and rest of the systemic examination was normal. All parental cousins of the patient an uncle and both the parents of the patient had similar swellings all over body.

The routine hematological investigations were normal.

Plain films of the skull (Figs 1,2)l showed a well-defined osteo-sclerotic lesion, with lobulated margins involving the frontal & ethmoidal air sinuses with intracranial extension.

Fig. 1	Fig.2

For evaluating the intracranial extension better, plain and contrast enhanced CT Scans of the brain were performed. (Figs 3,4,5,6)

Fig.3	Fig.4
Fig.5	Fig.6

These clearly revealed the intra-cranial and extra dural extension of the osteoma with compression of the brain parenchyma anteriorly. There was no edema. The ipsilateral cisterns were mildly dilated, consistent with an extra dural location of the tumour. The brain parenchyma was normal & did not show any focal area of abnormal attenuation.

In view of the history of bloody diarrhea and a possibility of Gardener's Syndrome, virtual colonoscopy was performed. For this, three millimeter contiguous overlapping scans were obtained & reconstructed at 1mm. After multiplanar reconstruction (Figs 7,8) ,multiple colonic polyps of varying sizes were seen.

Fig.7	Fig.8

The vitual colonoscopy images showed multiple polyps to clear advantage (Fig 9,10,11)

Fig.9
Fig.10	Fig.11

Thus, the radiological diagnosis of Gardner's syndrome was confirmed.

The unusual feature of this patient was the unusual presentation. Unlike most patients of Gardner's syndrome, who usually present with gastro-intestinal symptoms viz bloody diarrhoea & pain in abdomen, our patient presented with convulsions.

DISCUSSION:

Gardner's syndrome is a disorder involving the colon, characterised by adenomatous polyps & extra colonic manifestations (bone & soft tissue tumours)

Risk factor:-
Familial-autosomal dominant
Chromosome #5q21-22
Gene- adenomatous polyposis coli (APC)

Gardner's syndrome is a member of the Familial Polyposis Disorder which consists of
1.Familial Polyposis Coli (FPC)
2.Gardner's syndrome
3.Turcot's syndrome

The main difference between FPC & Gardner's syndrome is the greater degree of extracolonic manifestations in the latter.

As mentioned previously Gardner's syndrome consists of :
1.colonic polyps
2.bone tumours
3.soft tissue tumours

Other GI manifestations include:
Mesenteric fibromatosis which may lead to intestinal or ureteric obstruction & intestinal fistulae. Gastric lesions like fundic gland polyps, adenomas, adenocarcinomas and microcarcinoids may also occur.

Extra colonic manifestations include:
Bone tumours in the form of osteomas of the skull (mandible) & long bones. Soft tissue tumours like fibromas, lipomas, neurofibromas, epidermoid cysts(usually antedate the appearance of polyps)

Dental abnormalities like supernumerary teeth, mandibular cysts ,impaction. Other neoplasms like papillary carcinoma of thyroid ,adrenal adenomas & carcinomas, islet cell tumours.

Management :
1.Srveillance - colonoscopy every 2 years after age 8-9. Gnetic counselling
2.Surgery - Total proctocolectomy with terminal ileostomy ; Subtotal colectomy with stripping of rectal mucosa & ano-ileal anastomosis.

Home | College | Hospital | Alumni | Contact | Departments | Search | Radiology