Presentation
Patient presented with left-sided headaches, left ear pain, personality changes and word finding difficulty.
Patient Data
Heterogeneously enhancing mass involving the left temporal lobe with associated significant mass effect. Another T2 hyperintense lesion with folial thickening in the left cerebellum is characteristic finding of the dysplastic cerebellar gangliocytoma (also known as the Lhermitte-Duclos disease seen in Cowden syndrome).
Multiple skin tags.
Thyroid mass, concerning for malignancy.
Bilateral adrenal likely hamartomas or adrenal myelolipomas.
CT showing a large, heterogeneous lesion of right thigh containing fat and calcifications.
MR showed heterogeneous signal mass lesion including fat, soft tissue, and calcifications at the right gluteal region; most consistent with haemangioma.
Case Discussion
Upon additional clinical history, the patient had a family history of Cowden's syndrome. Craniectomy and tumour resection of the malignant-appearing left temporal mass was performed, revealing a gliosarcoma. No biopsies of the other lesions were performed.
Cowden syndrome:
- Autosomal dominant inherited mutations of PTEN gene.
- Diverse manifestations including breast, endometrial, thyroid, kidney and colorectal cancers, dermatologic features such as oral and skin papillomas, trichilemmomas, and gastrointestinal features such as mixed polyposis including hamartomas, and neurologic features such as Lhermitte–Duclos disease.
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