Cowden disease and Lhermitte–Duclos disease: an update

Abstract

<jats:sec> <jats:title>Object</jats:title> <jats:p>Cowden disease is a rare autosomal-dominant phacomatosis and cancer syndrome that is associated with Lhermitte–Duclos disease (LDD), also called dysplastic cerebellar gangliocytoma.</jats:p></jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>In this review the authors summarize the additions to the literature during the past 5 years, with emphasis on new case reports and advances in imaging and molecular biology. Adult-onset LDD is now considered pathognomonic for Cowden disease.</jats:p> <jats:p>Approximately 220 cases of LDD have been reported. Magnetic resonance imaging in patients with LDD is often diagnostic, and imaging studies have facilitated accurate diagnosis and contributed to the improved outcome in affected patients. Cowden disease and other rare, related disorders, such as Bannayan-Riley-Ruvalcaba, Proteus, and Proteus-like syndromes, are often caused by mutations of the <jats:italic>PTEN</jats:italic> gene.</jats:p></jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Because of the high incidence of systemic cancer in patients with Cowden disease, it is important for neurosurgeons to recognize the association between this disease and LDD and to refer affected patients for appropriate cancer screenings and interventions.</jats:p></jats:sec>

Dysplastic Gangliocytoma of the Cerebellum – a case of cerebellar lesion, finally diagnosed five years later

“…[1] The incidence is very less, 5 per million per year and approximately 222 cases of LDD have been reported in medical literature till now. [4] The age of onset of symptoms may be at any, but most commonly manifests in the third and fourth decades of life. [5] There is neither gender predilection & nor any apparent geographical pattern.…”

Диференціальна Діагностика Макроцефалій (Мегаленцефалій) У дітей

“…Дана група захворювань має загальну назву PTEN hamartoma tumor syndromes (PTEN-асоційовані синдроми з пухли-нами і гамартомами). До них, крім синдрому Баньяна -Райлі -Рувалкаба, належать синдром Ковдена (множинні гамартоми шкіри, слизових оболонок, внутрішніх органів і залоз) і Лермітт -Дуклос (диспластична гангліоцитома мозочка) [35,36]. Ген PTEN кодує білок-супресор росту пухлин, який діє на фермент фосфоінозитид-3-кіназу, який бере участь в регуляції клітинного циклу, ангіогенезу і клітинної проліферації [37].…”

Adult medulloblastoma mimicking Lhermitte-Duclos disease: Can diffusion weighted imaging help?

“…[1][2][3] Lhermitte-Duclos disease is a rare entity and about 220 cases have been reported till 2006. [4] We present an adult patient with medulloblastoma with suspicion of abnormal folia thickening masquerading as Lhermitte-Duclos disease. Our review of literature showed only two such case reports of medulloblastoma in children.…”