Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.

Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years.

Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis.

Objective: Though the liver is frequently affected in myotonic dystrophy type 1 and 2 (DM1, DM2), non-alcoholic and non-hepatitic liver cirrhosis have not been reported as a manifestation of DM2.

Clinical Presentation And Intervention: In a 52-year-old Caucasian male with DM2, the disease manifested as myopathy, mild myotonia, cataract, diabetes, erectile dysfunction, gastrointestinal dysmotility, dysarthria, mild myocardial thickening and non-alcoholic and non-hepatitic liver cirrhosis with portal hypertension and oesophageal varicosities since age 48 years. His 69-year-old sister, who carried a CCTG expansion of >300 in intron 1 of the CNBP/ZNF9 gene, also manifested in the liver with hyperbilirubinaemia, hepatopathy and hyperlipidaemia since age 48 years.

MRA versus DSA in the assessment of occlusive disease in the aortic arch vessels: accuracy in detecting the severity, number, and length of stenoses.

Purpose: To compare the diagnostic accuracy of contrast-enhanced magnetic resonance angiography (MRA) to that of digital subtraction angiography (DSA) in the detection, grading, and measurement of atherosclerotic stenoses involving the aortic arch arteries.

Methods: The MRA and DSA studies from 28 patients (16 women; mean age 61.6 years, range 24-83) being evaluated for possible aortic arch vessel disease were examined.

Contrast material-enhanced, moving-table MR angiography versus digital subtraction angiography for surveillance of peripheral arterial bypass grafts.

Purpose: To assess the accuracy of moving-table MR angiography (MRA) in the evaluation of peripheral bypass grafts.

Materials And Methods: There were 39 patients who had had peripheral bypass graft surgery and then subsequently underwent digital subtraction angiography (DSA) and contrast material-enhanced MRA, which was performed with moving-table software on a 1.0-T system before and during administration of 40 mL gadolinium.