Aceruloplasminemia is a rare autosomal recessive disorder of iron accumulation in the brain. It is one of the subtypes of Neurodegeneration with brain iron accumulation and is characterized by the uniform involvement of all basal ganglia, thalami, dentate nuclei, and cortex. Aceruloplasminemia is the only known iron overload disorder in which brain and systemic iron overload are combined.
View Article and Find Full Text PDFlynch syndrome (LS) is an autosomal dominant genetic disorder with incomplete penetration caused by a germline mutation in one of the genes of the deoxyribonucleic acid (DNA) mismatch repair system (MMR) namely: mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MHS6), post-meiotic segregation increased 1 homolog 2 (PMS2) or the EpCAM (Epithelial CellAdhesionMolecule) gene, which causes the inactivation of MSH2. Patients with this syndrome have a high relative risk of developing cancers at a young age, led by colorectal cancer (CRC) and endometrial cancer in females. The diagnosis is suspected when the patient's personal and family history meets the Amsterdam or Bethesda criteria.
View Article and Find Full Text PDFThe occipital bone is an uncommon location for meningoceles protrusion. This condition occurs generally after a severe traumatism or surgical procedure. However, in some rare cases, the herniation can happen spontaneously.
View Article and Find Full Text PDFCerebral aspergillosis is a fungal infection with a bad prognosis. It usually occurs in immunocompromised patients and manifests itself .Cross-sectional imaging reveals suggestive lesions.
View Article and Find Full Text PDFpneumonia is a common pathology in HIV-infected but also in uninfected immunocompromised individuals. The pandemic coronavirus disease 2019 (COVID-2019) is a new type of coronavirus disease caused by SARS-COV-2, and the chest imaging is often used as complementary tool in patients' evaluation. The imaging finding is similar with many pulmonary pathologies.
View Article and Find Full Text PDFThe hydatid cyst is a worldwide anthropozoonosis, which constitutes a health issue in Northern Africa. It may involve any organ, but it mostly affects the liver. This often asymptomatic disease can lead to multiple complications.
View Article and Find Full Text PDFGlob Pediatr Health
November 2021
Pulmonary Arteriovenous Malformations (PAVMs) are structurally abnormal vascular communications between pulmonary arteries and pulmonary veins, which bypass the normal capillary bed and cause a low resistance right-to-left shunt with refractory hypoxemia. Generally, PAVMs were congenital, most commonly associated with (Hereditary hemorrhagic teleangiectasia (HHT). The age of diagnosis is very variable, range neonatal to adulthood, mostly diagnosed in the first 3 decades of life and clinical manifestations occur later in life generally.
View Article and Find Full Text PDFCholangiocarcinoma is a rare liver tumor with three types: intrahepatic, extrahepatic, and perihilar, which alone account for about 50% of cases. The diagnosis is late with a poor prognosis. Imaging through Bili MRI and CT scan plays an essential role in the classification and staging of tumors for therapeutic management.
View Article and Find Full Text PDFThe Nutcracker Syndrome is a rare and often unrecognized cause of chronic pelvic pain and left back pain. These symptoms are due to the left renal vein compression between the aorta and the superior mesenteric artery (anterior nutcracker) or between the aorta and the spine (posterior nutcracker). The variety of clinical manifestations make the diagnosis difficult and commonly delayed.
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