Diagnosis
Cowden-Lhermitte-Duclos Syndrome
Findings
Grayscale ultrasound images of the
testicles demonstrate numerous bilateral hyperechoic lesions without shadowing.
No dominant mass is seen. Fluid within the scrotum on cine images is secondary
to ascites.
Contrast-enhanced computed
tomography (CT) images of the abdomen demonstrate extensive fat-containing lesions
throughout the small bowel. As mentioned in the summary, the findings of
cirrhosis and ascites are considered unrelated to the patient’s known syndrome.
T2-weighted coronal and T1-weighted
postcontrast axial images demonstrate a T2-hyperintense, nonenhancing lesion
within the right cerebellar hemisphere with a striated appearance. The
surrounding cerebellar parenchyma is normal in appearance.
Discussion
Cowden-Lhermitte Duclos (COLD)
Syndrome is subset of Cowden Syndrome, in which patients also have Lhermitte
Duclos Disease (LDD). LDD is characterized by the presence of a benign
dysplastic cerebellar gangliocytoma. Cowden Syndrome is also known as Multiple
Hamartoma Syndrome.
COLD Syndrome is now thought to
represent a new phakomatosis and represent a neurological manifestation of
Cowden Syndrome. It displays an autosomal dominant inheritance pattern with
variable penetrance, and is caused predominantly (80%) by a mutation in the
PTEN tumor suppressor gene.
The clinical manifestations are
extremely diverse, affecting nearly any organ system. The most common
manifestation is the development of mucocutaneous lesions, such as
tricholemmomas and papillomas in 90% of patients. These lesions are detectable
by physical examination and should raise suspicion, particularly in patients
with a family history. Other common manifestations include breast abnormalities,
such as fibrocystic changes, ductal hyperplasia, and intraductal papillomas in
75%, thyroid lesions, such as adenomas and multinodular goiter in 50% to 70%,
gastrointestinal polyps in 70%, macrocephaly in 70%, and less commonly
genitourinary abnormalities, such as ovarian cysts and uterine leiomyomas. Most
importantly, patients are at significantly increased risk for the development
of cancer, most commonly involving the breast, thyroid, endometrium, and
kidneys. The patient in this case developed a cystic renal cell carcinoma, seen
as an indeterminate, hypodense contour abnormality along the midpole of the
left kidney on this noncontrasted examination. The presence of fat containing
hamartomas within the testicles is a rare finding.
When Lhermitte-Duclose Disease is
diagnosed, approximately 50% of patients will also be found to have
manifestations of Cowden Syndrome, and the diagnosis of COLD Syndrome can be
made. Lhermitte-Duclose Disease is found exclusively within the cerebellum and
is indeterminate in etiology, possibly representing a neoplasm, hamartoma, or
malformative lesion. The lesions may be symptomatic and necessitate resection
if they become large, but are otherwise benign.
- Derrey S, Proust F, Debono B, et al. Association between
Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of
the literature. Surg Neurol. 2004;61:447-454, discussion 454.
- Hauser H, Ody B,
Plojoux O, et al. Radiological findings in multiple hamartoma syndrome (Cowden
disease): A report of three cases. Radiology.
1980;137:317-323.
- Robinson S, Cowen
AR. Cowden Disease and Lhermitte-Duclos Disease: Characterization of a new phakomatosis.
Neurosurgery. 2000;46:371-383.
- Lindsay C, Boardman L, Farrell M. Testicular hamartomas
in Cowden Disease. J Clin Ultrasound.
2003;31:481-483.