Cowden disease and Lhermitte–Duclos disease: an update

2006 ◽  
Vol 20 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Shenandoah Robinson ◽  
Alan R. Cohen
Keyword(s):  
Autosomal Dominant ◽  
Case Reports ◽  
Adult Onset ◽  
Cowden Disease ◽  
Resonance Imaging ◽  
Imaging Studies ◽  
Cancer Syndrome ◽  
The Past ◽  
Cancer Screenings ◽  
High Incidence

Object Cowden disease is a rare autosomal-dominant phacomatosis and cancer syndrome that is associated with Lhermitte–Duclos disease (LDD), also called dysplastic cerebellar gangliocytoma. Methods 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. 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 PTEN gene. Conclusions 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.

scholarly journals Hepatic Angiomyolipoma: Diagnostic Findings and Management

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Kenya Kamimura ◽  
Minoru Nomoto ◽  
Yutaka Aoyagi
Keyword(s):  
Case Reports ◽  
Human Melanoma ◽  
Resonance Imaging ◽  
Imaging Studies ◽  
Hepatic Angiomyolipoma ◽  
Portal Thrombosis ◽  
The Past ◽  
History Of ◽  
Detailed Imaging

Angiomyolipoma (AML) is a benign mesenchymal tumor that is frequently found in the kidney and, rarely, in the liver. The natural history of hepatic AML has not been clarified, and, because of the similar patterns in imaging studies, such as ultrasonography, computed tomography, and magnetic resonance imaging, some of these tumors have been overdiagnosed as hepatocellular carcinoma in the past. With an increase in the number of case reports showing detailed imaging studies and immunohistochemical staining of the tumor with human melanoma black-45, the diagnostic accuracy is also increasing. In this paper, we focused on the role of noninvasive imaging studies and histological diagnosis showing distinctive characteristics of this tumor. In addition, because several reports have described tumor progression in terms of size, recurrence after surgical resection, metastasis to other organs, and portal thrombosis, we summarized these cases for the management and discussed the indications for the surgical treatment of this tumor.

scholarly journals Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Kazuki Yoshida ◽  
Masao Miyagawa ◽  
Teruhito Kido ◽  
Kana Ide ◽  
Yoshifumi Sano ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Rare Disorders ◽  
Pulmonary Cysts ◽  
Dominant Disease ◽  
Rare Autosomal Dominant Disease

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disease characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and renal cancers. Oncocytomas are benign epithelial tumors that are also rare. Recently, there have been a few case reports of BHD with a parotid oncocytoma that appears to have a BHD phenotype. Here we document the eighth known case and describe the magnetic resonance imaging features of the parotid oncocytoma, which mimicked Warthin’s tumor. Radiologists should be aware of the association between these rare disorders.

scholarly journals Imaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review

2021 ◽  
Vol 9 (2) ◽  
pp. e063
Author(s):  
Laura A. Granado-Abasto ◽  
Jhoana M. Llaguno-Rubio ◽  
Gustavo A. Fiori-Chíncaro ◽  
Paola E. Medina-Ocampo
Keyword(s):  
Magnetic Resonance Imaging ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Resonance Imaging ◽  
Imaging Studies ◽  
Dominant Type ◽  
Radiographic Findings ◽  
Efficient Treatment ◽  
Magnetic Resonance Imaging Mri ◽  
Autosomal Dominant Type

Cleidocranial dysplasia (CCD), also known as Marie-Sainton syndrome, is a rare disorder of autosomal dominant type that presents specific characteristics at the skeletal and dental level. The diagnosis of CCD is based on clinical and radiographic findings. Panoramic, cephalometric, and anterior poster radiographs have been used for its diagnosis in dentistry. However, these radiological techniques have limitations, and advances in technology with new imaging studies such as magnetic resonance imaging (MRI) and ultrasound have emerged, contributing to the diagnosis of CCD. Therefore, the aim of this review was to identify and describe current imaging studies that contribute to both the diagnosis and adequate and efficient treatment planning of CCD and describe the clinical and radiographic characteristics of patients with this syndrome.

Emergency Imaging in Pregnancy and Lactation

2020 ◽  
Vol 71 (3) ◽  
pp. 396-402
Author(s):  
Shobhit Mathur ◽  
Ravishankar Pillenahalli Maheshwarappa ◽  
Saman Fouladirad ◽  
Omar Metwally ◽  
Pratik Mukherjee ◽  
...  
Keyword(s):  
Clear Understanding ◽  
Emergency Setting ◽  
Resonance Imaging ◽  
Imaging Studies ◽  
Contrast Extravasation ◽  
The Past ◽  
Risks And Benefits ◽  
Pregnancy And Lactation ◽  
Emergency Imaging

The use of diagnostic imaging studies in the emergency setting has increased dramatically over the past couple of decades. The emergency imaging of pregnant and lactating patients poses unique challenges and calls upon the crucial role of radiologists as consultants to the referring physician to guide appropriate use of imaging tests, minimize risk, ensure timely management, and occasionally alleviate unwarranted trepidation. A clear understanding of the risks and benefits involved with various imaging tests in this patient population is vital to achieve this. This review discusses the different safety and appropriateness issues that could arise with the use of ionizing radiation, iodinated-, and gadolinium-based contrast media and radiopharmaceuticals in pregnant and lactating patients. Special considerations such as trauma imaging, safety concerns with magnetic resonance imaging and ultrasound, management of claustrophobia, contrast extravasation, and allergic reactions are also reviewed. The consent process for these examinations has also been described.

Partial Adrenal Suppression with Prolonged Use of Depo-Provera

2019 ◽  
Vol 4 (1) ◽  
pp. 64
Author(s):  
Nur Aisyah Zainordin ◽  
Fatimah Zaherah Mohamed Shah ◽  
Rohana Abdul Ghani
Keyword(s):  
Weight Gain ◽  
Medroxyprogesterone Acetate ◽  
Side Effect ◽  
Case Reports ◽  
Adrenal Incidentaloma ◽  
Adrenal Suppression ◽  
Private Pharmacy ◽  
Significant Weight Gain ◽  
The Past ◽  
Depo Provera

A 49-year old patient presented with symptoms of adrenal suppression following an attempt to withdraw Depo-Provera or Depot Medroxyprogesterone Acetate (DMPA) injection. She had been receiving DMPA injections for the past 16 years for contraception. She was initially prescribed DMPA by her gynaecologist but later on began obtaining the medication directly from a private pharmacy without prior consultation from her gynaecologist. Clinically, she had been experiencing significant weight gain and appeared cushingoid. Blood investigations confirmed partial adrenal suppression with presence of an adrenal incidentaloma. This case reports a known side effect of DMPA but occurring at a much lower dose than previously described. It also highlights the need to increase the awareness of the insidious side effect of DMPA and to avoid unsupervised use of the drug.

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