scholarly journals Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome

2012 ◽  
Vol 55 (1) ◽  
pp. 107 ◽  
Author(s):  
Aparna Govindan ◽  
S Premkumar ◽  
JacobP Alapatt
Keyword(s):  
Cowden Syndrome ◽  
Dysplastic Gangliocytoma

scholarly journals Rare Dysplastic Gangliocytoma of Cerebellum: A Case Report

2020 ◽  
Author(s):  
Nidhish Kumar ◽  
Sharvani Singh ◽  
Bipin Kumar
Keyword(s):  
Obstructive Hydrocephalus ◽  
Tertiary Care ◽  
Signs And Symptoms ◽  
Cowden Syndrome ◽  
Verbal Response ◽  
Cerebellar Hemisphere ◽  
Cancer Syndrome ◽  
Dysplastic Gangliocytoma ◽  
Significant Family History ◽  
Chief Complaints

Lhermitte and Duclos first described Dysplastic Gangliocytoma in 1920. Lhermitte Duclos Disease (LDD) is an extremely rare disorder of uncertain prognosis and pathogenesis. LDD is recognised as a part of Cowden Disease, which being an autosomal-dominant phacomatosis and cancer syndrome. Till date only about 225 cases of LDD have currently been reported in medical literature. It is most commonly seen in young adults with a peak incidence in third or fourth decade with signs and symptoms of cerebellar dysfunction or increased intracranial pressure leading to obstructive hydrocephalus. A 36-year-old female came to Neuromedicine Outpatient Department (OPD) in a Tertiary Care Superspecialty Hospital with chief complaints of headache and vomiting, difficulty in swallowing liquid food since two months with no significant family history. The patient’s general condition was not good with significant weakness on presentation. The patient was conscious, oriented with pulse rate of 78/bpm, blood pressure of 118/80 mm of Hg with bilateral clear chest with normal S1 S2 sound. The Glasgow Coma Scale (GCS) was found to be Eye response-4, Verbal response-5, Motor response-6. Magnetic Resonance Imaging (MRI) of patient showed large heterogeneous non-enhancing lesion involving left cerebellar hemisphere, vermis and cerebellar peduncle with widened cerebellar folia with a “Tigroid appearance”. A diagnosis of Cerebellar Gangliocytoma was made and was treated successfully with surgery and diagnostically proven with biopsy and immunohistochemistry. The background history of Cowden syndrome was not present in index case.

scholarly journals Lhermitte duclos disease: what to expect during surgery?

2021 ◽  
Vol 36 (1) ◽  
Author(s):  
Sanjeev Kumar ◽  
Debabrata Sahana ◽  
Amit Jain ◽  
Lavlesh Rathore ◽  
Manish Tawari ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Cowden Syndrome ◽  
Dysplastic Gangliocytoma ◽  
Radiological Features ◽  
Pathological Characteristics ◽  
Operating Surgeon

AbstractLhermitte and Duclos first described the dysplastic gangliocytoma of the cerebellum in 1920. In the last 100 years, its clinical presentation, radiological features, pathological characteristics, and association with Cowden syndrome have been well described. However, documentation of surgical experiences is lagging. We here describe intraoperative experience during the removal of the tumor, which could help the operating surgeon plan and mental makeup.

scholarly journals Dysplastic Gangliocytoma: A Rare Example of Cerebellar Tumor with An Evident Genetic Profile (Cowden Syndrome)

2021 ◽  
Vol 11 (02) ◽  
pp. 33-37
Author(s):  
Javier Ortiz Rodríguez-Parets ◽  
Luis Miguel Chinchilla Tábora ◽  
Enrique Montero Mateos ◽  
Elisa Muñoz Torres ◽  
María Dolores Ludeña de la Cruz
Keyword(s):  
Cowden Syndrome ◽  
Genetic Profile ◽  
Cerebellar Tumor ◽  
Dysplastic Gangliocytoma

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

2019 ◽  
Vol 38 (04) ◽  
pp. 319-323
Author(s):  
Mylena Miki Lopes Ideta ◽  
Mylla Christie Oliveira Paschoalino ◽  
Louise Makarem Oliveira ◽  
Nelson Brancaccio dos Santos ◽  
Marco Rodrigo Valdivia Sanz ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Posterior Fossa ◽  
Genetic Disorders ◽  
Mass Effect ◽  
Cowden Syndrome ◽  
Dysplastic Gangliocytoma ◽  
Expansive Lesion ◽  
Slow Growing ◽  
Cerebellar Symptoms

AbstractLhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are considered major criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil.

Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview

2021 ◽  
Author(s):  
Sebastião Silvério Sousa-Neto ◽  
José Alcides Almeida de Arruda ◽  
Allisson Filipe Lopes Martins ◽  
Lucas Guimarães Abreu ◽  
Ricardo Alves Mesquita ◽  
...  
Keyword(s):  
Case Report ◽  
Cowden Syndrome ◽  
Aged Patient ◽  
Middle Aged ◽  
Patient Case ◽  
Literature Overview

Bariatric Surgery for Cowden Syndrome with PTEN Mutation: a Case Report

2021 ◽  
Author(s):  
Han Na Jang ◽  
Sa Hong Kim ◽  
Young Min Cho ◽  
Do Joong Park
Keyword(s):  
Bariatric Surgery ◽  
Case Report ◽  
Cowden Syndrome ◽  
Pten Mutation

scholarly journals Lhermitte–Duclos Disease: Incidental Finding in Traumatic Cerebral Hemorrhage

2021 ◽  
Author(s):  
Hemant Kumar Beniwal ◽  
Thatikonda Satish ◽  
Gollapudi Prakash Rao ◽  
Musali Siddartha Reddy ◽  
Srikrishnaaditya Manne
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Intracranial Pressure ◽  
Cerebellar Ataxia ◽  
Cerebral Hemorrhage ◽  
Incidental Finding ◽  
Cowden Syndrome ◽  
Young Female ◽  
Resonance Imaging ◽  
Increased Intracranial Pressure

AbstractLhermitte–Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare hamartomatous tumor localized in cerebellum. An association with Cowden syndrome is observed in 50% of cases who present with symptoms of increased intracranial pressure and cerebellar ataxia. These patients have specific magnetic resonance imaging and histopathological findings. Surgical resection is the treatment of choice. Here, we report a case of a young female with traumatic frontal hemorrhage associated with Lhermitte–Duclos disease.

scholarly journals Cowden syndrome

BDJ ◽  
2021 ◽  
Vol 230 (6) ◽  
pp. 362-362
Author(s):  
Reena Wadia
Keyword(s):  
Cowden Syndrome

scholarly journals PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3120
Author(s):  
David D. Dragoo ◽  
Ahmed Taher ◽  
Vincenzo K. Wong ◽  
Ahmed Elsaiey ◽  
Nikita Consul ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Malignant Tumors ◽  
Cowden Syndrome ◽  
Benign Tumors ◽  
Imaging Findings ◽  
Pten Hamartoma Tumor Syndrome ◽  
Associated Lesions ◽  
Tumor Recognition ◽  
Integral Role ◽  
Early Tumor

PTEN hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline PTEN mutation that leads to the development of multisystem hamartomas and oncogenesis. Benign tumors such as Lhermitte–Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus are seen in CS. Radiologists have an integral role in the comanagement of CS patients. We present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in CS and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in CS patients.

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