Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.

Wagner syndrome is a rare autosomal dominant vitreoretinopathy caused by mutations in chondroitin sulphate proteoglycan 2 (CSPG2)/Versican (VCAN). Here, we present a retrospective case series of a family pedigree with genetically confirmed Wagner syndrome (heterozygous VCAN exon 8 deletion), as follows: a 34-year-old mother (P1), 12-year-old daughter (P2), and a 2-year-old son (P3). The phenotype included early-onset cataract (P1), optically empty vitreous with avascular membranes (P1, 2), nasal dragging of optic nerve heads associated with foveal hypoplasia (P1, 2), tractional retinoschisis on optical coherence tomography (P2), and peripheral circumferential vitreo-retinal interface abnormality resembling white-without-pressure (P3) progressing to pigmented chorio-retinal atrophy (P1, 2). P2 developed a macula-off retinal detachment, which was treated initially with encircling band + vitrectomy + gas, followed by vitrectomy + heavy silicone oil tamponade for re-detachment from new inferior breaks. Strong vitreo-retinal adhesion was noted intraoperatively, which prevented the separation of posterior hyaloid beyond the equator. Electroretinograms from P1&2 demonstrated attenuated b-waves, a-waves, and flicker responses in light- and dark-adapted conditions, suggestive of generalised retinal dysfunction. Our patients demonstrated the clinical spectrum of Wagner syndrome, highlighting nasal dragging with foveal disruption as a distinguishing feature from other inherited vitreoretinopathies. Surgical outcomes demonstrate significant challenges in managing vitreo-retinal traction and need for further research into strategies to prevent sight loss.

A duodenal gastrointestinal stromal tumor with a large central area of fluid and gas due to fistulization into the duodenal lumen, mimicking a large duodenal diverticulum.

Gastrointestinal stromal tumors (GISTs) can occur anywhere along the gastrointestinal tract especially the stomach and upper small bowel. They are usually solid, but cystic degeneration, necrosis, and focal hemorrhage have been described in larger tumors leading to central necrotic cavitation. The most sensitive marker of GIST is CD117 (c-kit). In computed tomography (CT) scan, it is often difficult to decide the origin of the primary tumor, especially in large GISTs. We report an incidental case of a large duodenal GIST fistulizing into the second part of the duodenum with a large amount of fluid and gas inside, mistaken for a cystic pancreatic neoplasm by CT and mistaken for a duodenal diverticulum by endoscopic ultrasound.

K469E polymorphism of the intercellular adhesion molecule-1 gene in Egyptians with coronary heart disease.

BACKGROUND AND OBJECTIVES: The initial step in atherosclerosis is the adhesion of leukocytes to activated endothelial cells mediated by intercellular adhesion molecule-1 (ICAM-1). This study aimed to investigate the association of K469E polymorphism of the ICAM-1 gene and soluble ICAM-1 (sICAM-1) serum level with coronary heart disease (CHD) in Egyptian subjects. PATIENTS AND METHODS: Using a case-control design, we studied 100 patients with CHD, including 73 patients with acute myocardial infarction (MI) and 27 with unstable angina (UA). The control group consisted of 50 healthy subjects with normal left ventricular function. All participants were genotyped for the ICAM-1 polymorphism by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Serum sICAM-1 was measured by enzyme-linked immunoassay (ELISA). RESULTS: In CHD patients, the frequencies of K genotype (KK and EK) were significantly higher when compared to controls (P<.001) and were associated with an increased risk of disease development (OR=3.8, 95% CI: 1.7 to 8.5; P=.001). K genotype frequencies in patients with MI showed no significant difference when compared to patients with UA (P= .121). Serum sICAM-1 levels were comparable between CHD patients and controls (P= .37) and between MI and UA patients (P=.23). There were no significant differences in sICAM-1 levels among patients with different genotypes (P=.532). Men presented with higher sICAM-1 levels than women (P=.004). CONCLUSION: ICAM-1 gene polymorphism in codon 469 is associated with a risk for CHD development in Egyptian subjects. Serum sICAM-1 is not influenced by this polymorphism and is not necessarily elevated in CHD.