What You See Is Not What You Get: Frontal Sinus Metastasis From the Renal Cell Carcinoma.

Metastatic neoplasms occurring in the nasal and paranasal sinuses are infrequent occurrences. In this study, we present one such case of a 61-year-old male patient with a known clear cell renal carcinoma presenting to us with signs and symptoms of acute sinusitis. The patient subsequently underwent CT and MRI examinations, which revealed a neoplastic mass in the right frontal sinus, which was surgically resected and was later confirmed histologically as a metastatic deposit from clear cell renal carcinoma. The patient is currently being treated with chemotherapy and radiotherapy and is doing well.

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). METHODS AND RESULTS: Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. CONCLUSIONS: Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities.

Cardiac myxoma in Iceland: a case series with an estimation of population incidence.

Cardiac myxoma (CM) is the most common primary benign tumor of the heart, but the true age-standardized incidence rate (ASR) has remained unknown. We therefore used nationwide registries in Iceland to study CM and establish its incidence rate. This was a retrospective study involving all patients diagnosed with CM in Iceland between 1986 and 2010. Cases were identified through three different registries, and hospital charts and histology results reviewed. An ASR was estimated based on a world standard population (w). Nine cases of CM (six women) were identified with a mean age of 62.8 years (range: 37-85), giving an ASR of 0.11 (95% CI: 0.05-0.22) per 100,000. The mean tumor size was 4.4 cm (range: 1.5-8.0) with all the tumors located in the left atrium. Dyspnea (n = 6) and ischemic stroke (n = 2) were the most common symptoms. All patients underwent complete resection of the tumor and there were no postoperative deaths or CM-related deaths at follow-up (mean 85 months). The ASR of CM in Iceland was 0.11 per 100,000. To our knowledge, this is the first study to determine the incidence of CM in an entire population. In Iceland, the presenting symptoms and mode of detection of CM are similar to those in other series.

Dynamic contrast-enhanced MR imaging for differentiation of rounded atelectasis from neoplasm.

PURPOSE: To characterize rounded atelectasis (RA) with dynamic contrast-enhanced MRI in the differential diagnosis of solitary peripheral pulmonary neoplasm. MATERIALS AND METHODS: Twenty-four patients with diagnostically equivocal peripheral pulmonary nodules were examined with dynamic contrast-enhanced MRI. 13 patients had a total of 16 rounded atelectases and 11 had a neoplasm. The final diagnosis was made either by histology (n = 14) or follow-up examinations of at least 24 months (n = 10). The peripheral nodules were evaluated concerning their morphology and contrast-enhancement dynamics. Curves for signal intensity (SI) versus time were produced and the relative increase in SI, slope of SI during wash-in, and slope of SI during wash-out calculated. Additionally, SI time curves were evaluated using a two compartment model where the ratio for the SI of the fast and the slow component were calculated. Mean values from different tissues of interest were compared by an unpaired two-sided t-test. RESULTS: Analysis of the SI-time curves of the RAs revealed a curve shape similar to the pulmonary artery, but a magnitude in SI between artery and normal lung tissue. Linear curve fit showed a significantly steeper slope during wash-in and wash-out, and higher relative signal increase in atelectases as compared to neoplasms. Results from the two compartment model showed increased flow and a high ratio of the slow to the fast components with a long mean transit time in neoplasms. CONCLUSION: Three parameters, slope of SI during wash-in and wash-out, and the slow/fast ratio can be used as diagnostic tools for discrimination of RA and neoplasm.