Alveolar echinococcosis is a rare parasitic disease caused by the fox tapeworm Echinococcus multilocularis, which is endemic in many parts of the world. Without timely diagnosis and therapy, the prognosis is dismal, with death the eventual outcome in most cases. Diagnosis is usually based on findings at radiologic imaging and in serologic analyses. Because echinococcal lesions can occur almost anywhere in the body, familiarity with the spectrum of cross-sectional imaging appearances is advantageous. Echinococcal lesions may produce widely varied imaging appearances depending on the parasite's growth stage, the tissues or organs affected, and the presence of associated complications. Although the liver is the initial site of mass infestation by E multilocularis, the parasite may disseminate from there to other organs and tissues, such as the lung, heart, brain, bones, and ligaments. In severe infestations, the walls of the bile ducts and blood vessels may be invaded. Disseminated parasitic lesions in unusual locations with atypical imaging appearances may make it difficult to narrow the differential diagnosis. Ultrasonography, computed tomography (CT), magnetic resonance (MR) imaging with standard and diffusion-weighted sequences, and MR cholangiopancreatography all provide useful information and play complementary roles in detecting and characterizing echinococcal lesions. Cross-sectional imaging is crucial for differentiating echinococcosis from malignant processes: CT is most useful for depicting the peripheral calcifications surrounding established echinococcal cysts, and MR imaging is most helpful for identifying echinococcosis of the central nervous system.

No abstract

No abstract

No abstract

Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et al. [1988], only 29 cases have been reported. We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum, micrognathia, fair hair, and skin. They both had general hypotonia and elevated muscle enzymes. Magnetic resonance imaging (MRI) of the brain confirmed agenesis of corpus callosum in both patients. Secundum type atrial septal defect (in Patient 1) and mild mitral, tricuspid, and pulmonary insufficiency (in Patient 2) were detected by echocardiographic examination. Immunological studies were normal, as were chromosome karyotype analyses (46, XY). Both children had bilateral cutaneous syndactyly between second and third toes and also bilateral sensorineural hearing loss. Patient 1 had poor feeding and regurgitation necessitating a feeding tube; mild laryngomalacia was subsequently detected by bronchoscopy. Mutation analysis in patient 2 showed a homozygous p.R2483* (c.7447C > T) mutation in EPG5 gene. We report a summary of the clinical findings in our patients and 29 cases from the literature.