Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome
نویسندگان
چکیده
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.
منابع مشابه
Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature.
Lhermitte-Duclos disease is a rare entity, and its pathological features are unique. Pathological findings are characteristic of the disease, with global hypertrophy of the cerebellum, coarse gyri, and the typical "inverted cortex" pattern. Several associated lesions were noted in many patients with Lhermitte-Duclos disease. It is only recently that an association between Lhermitte-Duclos disea...
متن کاملLhermitte – Duclos Disease in a Young Adult: Rare Entity
Lhermitte - Duclos disease also called dysplastic gangliocytoma of cerebellum is an extremely rare cerebellar lesion which share features of both malformation and neoplasm. The usual presentation is of raised intracranial pressure along with cerebellar signs. We report a case of 23 year male who presented with headache & diplopia. MRI was suggestive of the diagnosis. Subtotal excision of th...
متن کاملLhermitte - duclos Disease :
Lhermitte-Duclos disease (LDD) is a benign neoplasm of posterior fossa, involving cerebellum. It is also known as dysplastic cerebellar gangliocytoma. It is not a true neoplasm but a hamartoma. It can be either isolated finding or associated with Cowden (multiple hamartoma syndrome). adults.
متن کاملCowden disease with Lhermitte-Duclos disease: case report.
BACKGROUND We report a case and review the recent literature describing 36 patients with both Lhermitte-Duclos disease (LDD) and Cowden disease (CD). Lhermitte-Duclos disease, or dysplastic gangliocytoma, is a benign hamartomatous condition involving the cerebellum. The presenting symptoms are usually headaches, gait ataxia, and symptoms of lower cranial nerve involvement. Cowden disease is a r...
متن کاملCowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
Cowden syndrome is an autosomal dominant condition of multiple hamartomas. Patients with this phakomatosis have an increased risk of breast cancer and thyroid tumours. Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, mental retardation, and self-limited seizure disorder. We describe a three generation family with Cowden syndrome and Lherm...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
دوره 2015 شماره
صفحات -
تاریخ انتشار 2015