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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

The surgical resection specimen includes a region of almost normal cerebellar parenchyma (a), with a normal granule cell layer that consists of fairly densely packed small neurons that are seen as blue nuclei separated by synaptic zones that are pink. The normal single layer of large Purkinje cells is located at the interface with the low cellularity molecular layer, here minimally more cellular than usual. Compare this with the images of the lesion (b and c). (b) The cerebellar granule cell layer in this region of the lesion is dysmorphic. Granule cells are scant and dispersed among ganglionic cells of varying sizes that expand this layer. (c) Detail of a region featured in upper right quadrant of panel (b) highlights the variable size of the abnormal ganglionic neurons characterized by relatively abundant cytoplasm and large nuclei with prominent nucleoli, some with abnormal irregularly shaped nuclei, that replace and expand the granule cell layer (hematoxylin and eosin paraffin sections; original magnifications: (a) 100x, (b) 200x, and (c) 400x).
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fig3: The surgical resection specimen includes a region of almost normal cerebellar parenchyma (a), with a normal granule cell layer that consists of fairly densely packed small neurons that are seen as blue nuclei separated by synaptic zones that are pink. The normal single layer of large Purkinje cells is located at the interface with the low cellularity molecular layer, here minimally more cellular than usual. Compare this with the images of the lesion (b and c). (b) The cerebellar granule cell layer in this region of the lesion is dysmorphic. Granule cells are scant and dispersed among ganglionic cells of varying sizes that expand this layer. (c) Detail of a region featured in upper right quadrant of panel (b) highlights the variable size of the abnormal ganglionic neurons characterized by relatively abundant cytoplasm and large nuclei with prominent nucleoli, some with abnormal irregularly shaped nuclei, that replace and expand the granule cell layer (hematoxylin and eosin paraffin sections; original magnifications: (a) 100x, (b) 200x, and (c) 400x).

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)

The surgical resection specimen includes a region of almost normal cerebellar parenchyma (a), with a normal granule cell layer that consists of fairly densely packed small neurons that are seen as blue nuclei separated by synaptic zones that are pink. The normal single layer of large Purkinje cells is located at the interface with the low cellularity molecular layer, here minimally more cellular than usual. Compare this with the images of the lesion (b and c). (b) The cerebellar granule cell layer in this region of the lesion is dysmorphic. Granule cells are scant and dispersed among ganglionic cells of varying sizes that expand this layer. (c) Detail of a region featured in upper right quadrant of panel (b) highlights the variable size of the abnormal ganglionic neurons characterized by relatively abundant cytoplasm and large nuclei with prominent nucleoli, some with abnormal irregularly shaped nuclei, that replace and expand the granule cell layer (hematoxylin and eosin paraffin sections; original magnifications: (a) 100x, (b) 200x, and (c) 400x).
© Copyright Policy - open-access
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4581503&req=5

fig3: The surgical resection specimen includes a region of almost normal cerebellar parenchyma (a), with a normal granule cell layer that consists of fairly densely packed small neurons that are seen as blue nuclei separated by synaptic zones that are pink. The normal single layer of large Purkinje cells is located at the interface with the low cellularity molecular layer, here minimally more cellular than usual. Compare this with the images of the lesion (b and c). (b) The cerebellar granule cell layer in this region of the lesion is dysmorphic. Granule cells are scant and dispersed among ganglionic cells of varying sizes that expand this layer. (c) Detail of a region featured in upper right quadrant of panel (b) highlights the variable size of the abnormal ganglionic neurons characterized by relatively abundant cytoplasm and large nuclei with prominent nucleoli, some with abnormal irregularly shaped nuclei, that replace and expand the granule cell layer (hematoxylin and eosin paraffin sections; original magnifications: (a) 100x, (b) 200x, and (c) 400x).
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