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Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome.

Hu ZI, Bangiyev L, Seidman RJ, Cohen JA - Case Rep Oncol Med (2015)

Bottom Line: Additional imaging subsequently revealed the presence of thyroid nodules and bilateral breast cancers.Genetic testing later confirmed the diagnosis of Cowden syndrome.This case illustrates the importance of the overlap between LDD, Cowden syndrome, thyroid disease, and breast cancer.

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Mount Sinai St. Luke's Roosevelt Hospital Center, New York, NY 10019, USA.

ABSTRACT
We report a case of a 37-year-old woman presenting with dysphagia and thyroid masses who was subsequently diagnosed with Lhermitte-Duclos disease (LDD) based on MRI scan and histopathology. Additional imaging subsequently revealed the presence of thyroid nodules and bilateral breast cancers. Genetic testing later confirmed the diagnosis of Cowden syndrome. This case illustrates the importance of the overlap between LDD, Cowden syndrome, thyroid disease, and breast cancer.

No MeSH data available.


Related in: MedlinePlus

Noncontrast head CT (a) demonstrates a slightly hypodense (solid arrow) mass with calcifications (open arrow) centered in the right cerebellum. MRI of the brain demonstrates the typical striated-appearing right cerebellar mass with alternating isointense (solid arrow) and hypointense (open arrow) striations on coronal precontrast T1 weighted image (b) and isointense (solid arrow) and hyperintense (open arrow) signal on axial T2 weighted image (c). There is no appreciable enhancement of the mass on postcontrast axial T1 weighted image (d).
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fig2: Noncontrast head CT (a) demonstrates a slightly hypodense (solid arrow) mass with calcifications (open arrow) centered in the right cerebellum. MRI of the brain demonstrates the typical striated-appearing right cerebellar mass with alternating isointense (solid arrow) and hypointense (open arrow) striations on coronal precontrast T1 weighted image (b) and isointense (solid arrow) and hyperintense (open arrow) signal on axial T2 weighted image (c). There is no appreciable enhancement of the mass on postcontrast axial T1 weighted image (d).

Mentions: MRI of the head revealed mild hydrocephalus and a right 3.8 cm cerebellar mass with a “tiger-stripe” appearance consistent with LDD (Figure 2). Total resection of the lesion was performed and histopathologic evaluation confirmed the diagnosis (Figure 3).


Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome.

Hu ZI, Bangiyev L, Seidman RJ, Cohen JA - Case Rep Oncol Med (2015)

Noncontrast head CT (a) demonstrates a slightly hypodense (solid arrow) mass with calcifications (open arrow) centered in the right cerebellum. MRI of the brain demonstrates the typical striated-appearing right cerebellar mass with alternating isointense (solid arrow) and hypointense (open arrow) striations on coronal precontrast T1 weighted image (b) and isointense (solid arrow) and hyperintense (open arrow) signal on axial T2 weighted image (c). There is no appreciable enhancement of the mass on postcontrast axial T1 weighted image (d).
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4581503&req=5

fig2: Noncontrast head CT (a) demonstrates a slightly hypodense (solid arrow) mass with calcifications (open arrow) centered in the right cerebellum. MRI of the brain demonstrates the typical striated-appearing right cerebellar mass with alternating isointense (solid arrow) and hypointense (open arrow) striations on coronal precontrast T1 weighted image (b) and isointense (solid arrow) and hyperintense (open arrow) signal on axial T2 weighted image (c). There is no appreciable enhancement of the mass on postcontrast axial T1 weighted image (d).
Mentions: MRI of the head revealed mild hydrocephalus and a right 3.8 cm cerebellar mass with a “tiger-stripe” appearance consistent with LDD (Figure 2). Total resection of the lesion was performed and histopathologic evaluation confirmed the diagnosis (Figure 3).

Bottom Line: Additional imaging subsequently revealed the presence of thyroid nodules and bilateral breast cancers.Genetic testing later confirmed the diagnosis of Cowden syndrome.This case illustrates the importance of the overlap between LDD, Cowden syndrome, thyroid disease, and breast cancer.

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Mount Sinai St. Luke's Roosevelt Hospital Center, New York, NY 10019, USA.

ABSTRACT
We report a case of a 37-year-old woman presenting with dysphagia and thyroid masses who was subsequently diagnosed with Lhermitte-Duclos disease (LDD) based on MRI scan and histopathology. Additional imaging subsequently revealed the presence of thyroid nodules and bilateral breast cancers. Genetic testing later confirmed the diagnosis of Cowden syndrome. This case illustrates the importance of the overlap between LDD, Cowden syndrome, thyroid disease, and breast cancer.

No MeSH data available.


Related in: MedlinePlus