Type:
Educational Exhibit
Keywords:
Genetic defects, Diagnostic procedure, MR, CT, Head and neck, Gastrointestinal tract, CNS
Authors:
R. Stephenson, F. Arfeen, N. Shah, M. Pelta, A. Adams; London/UK
DOI:
10.1594/ecr2018/C-1730
Findings and procedure details
Imaging
The following patients all have a diagnosis of Cowden Syndrome.
Case 1 demonstrates multiple features of the syndrome.
The MRI of the brain (Fig.
1) demonstrates Lhermitte-Duclos disease with a high T2,
low T1 lesion that does not enhance.
The classic tiger stripe pattern is best seen on the T2 weighted sequence.
The patient is also shown to have vascular malformations involving the lip (Fig.
2) and neck (Fig.
3).
There are several benign nodules within the thyroid.
The thyroid is also atrophic and heterogenous in keeping with previous thyroiditis (Fig.
4).
Case 2 shows simple cysts in both breasts as well as a larger lesion with benign features in the right breast (Fig.
5).
Excision biopsy showed this to be a fibroadenoma.
Benign thyroid nodules are demonstrated in the thyroid (Fig.
6).
Case 3 demonstrates a large multinodular goitre,
which is distorting the trachea (Fig.
7).
The CT performed to assess retrosternal extension also revealed a vascular malformation in the left side of the neck (Fig.
8).
Case 4 is a male patient who felt a lump in the chest.
Ultrasound was performed to characterise the lesion further and exclude male breast cancer.
This demonstrated a lipoma (Fig.
9).
Case 5 is a patient who was found to have a fibrous tumour of the small bowel (Fig.
10).
An ultrasound of subcutaneous nodules in the anterior abdominal wall revealed lipomas (Fig.
11).
Case 6 shows imaging from a patient that was found to have a hypoechoic,
heterogenous thyroid in keeping with previous thyroiditis (Fig.
12).
The patient also had palpable subcutaneous lumps,
which were demonstrated to be lipomas on ultrasound (Fig.
13).