Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

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Cowden 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...

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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...

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

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 o...

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Successful Treatment of a Patient with Lhermitte-Duclos Disease (a Case Report and Literature Review)

Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, was first diagnosed by doctors Lhermitte and Duclos in 1920. In subsequent years, the disease was described by many researchers: Bielschowsky and Simons in 1930, Christensen in 1937, Duncan and Snodgrass in 1943, Ambler in 1969, and Padber in 1991. Each of the authors referred to this disease in a different way: diffus...

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Cowden 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...

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ژورنال

عنوان ژورنال: Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery

سال: 2019

ISSN: 0103-5355,2359-5922

DOI: 10.1055/s-0039-1693682