Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

BACKGROUND: Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. OBJECTIVES: The study analyzed a large-scale newborn screening program for FD to understand the natural course of later onset FD. METHODS: To date, 916,383 newborns have been screened for FD in Taiwan, including more than 1,200 individuals with the common, later onset IVS4+919G>A (IVS4) mutation. Echocardiography was performed in 620 adults with the IVS4 mutation to analyze the prevalence of left ventricular hypertrophy (LVH), and gadolinium-enhanced cardiac magnetic resonance imaging was performed in 129 patients with FD, including 100 IVS4 adults. RESULTS: LVH was observed in 67% of men and 32% of women older than 40 years. Imaging evidenced significant late gadolinium enhancement in 38.1% of IVS4 men and 16.7% of IVS4 women with the IVS4 mutation but without LVH. Seventeen patients underwent endomyocardial biopsies, which revealed significant globotriaosylceramide substrate accumulation in their cardiomyocytes. CONCLUSIONS: Significant cardiomyocyte substrate accumulation in IVS4 patients led to severe and irreversible cardiac fibrosis before development of LVH or other significant cardiac manifestations. Thus, it might be too late to start enzyme replacement therapy after the occurrence of LVH or other significant cardiac manifestations in patients with later onset FD. This study also indicated the importance of newborn screening for early detection of the insidious, ongoing, irreversible cardiac damage in patients with later onset FD.

Lymphoepithelioma-like cholangiocarcinoma: a mimic of hepatocellular carcinoma on imaging features.

Primary lymphoepithelioma-like carcinoma in the liver is extremely rare. A few cases of lymphoepithelioma-like cholangiocarcinoma have been reported, but few radiologic features were described. We reviewed 23 cases of lymphoepithelioma-like cholangiocarcinoma reported between 1996 and 2014 and describe a rare case of a 35-year-old woman in our hospital who was diagnosed with lymphoepithelioma-like cholangiocarcinoma of the liver and was a hepatitis B carrier. The tumor (1.6 cm) in our patient appeared to be hypoechoic in sonographic images and hypodense in computed tomography (CT) images. In addition, it was homogeneous hypointense in T1-weighted magnetic resonance (MR) images (MRI) and hyperintense in T2-weighted MRI. Dynamic gadolinium-enhanced MRI showed typical image pattern of hepatocellular carcinoma (HCC). The patient underwent a laparoscopic left hepatic lobectomy, and the resected tumor consisted of well-differentiated glandular cells with extensive lymphocytic infiltration that were immunoreactive to CK (AE1/AE3), CD3, and CD20. In addition, the tumor was positive for Epstein-Barr virus-encoded RNA in situ hybridization. Finally, lymphoepithelioma-like cholangiocarcinoma was diagnosed. In previous studies, the incidence is highest among middle-aged people. Most tumors appeared to be hypodense with either hypovascular or hypervascular patterns in CT images. This case report is the first study to address sonography, CT, and MRI observations and delineate pathologic correlations. We suggest that the imaging pattern of lymphoepithelioma-like cholangiocarcinoma, either the typical cholangiocarcinoma pattern or a mimic of HCC, should be considered in the differential lists for HCC.

Management and clinical outcomes of intraocular foreign bodies with the aid of orbital computed tomography.

BACKGROUND: Computed tomography (CT) is known to be the first-line imaging method for patients with or suspect to have intraocular foreign bodies (IOFBs). The purpose of this study is to evaluate clinical outcomes in the management of IOFBs with the aid of CT. METHODS: Retrospective chart review of patients who received orbital CT prior to the removal of an IOFB between January 2000 and December 2010 was carried out. Patients with an IOFB who did not receive an operation or those without a preoperation CT examination were excluded. Twenty patients with a mean age of 37 years were selected. The duration between injury and surgery ranged from hours to 4 months. Detailed information and ophthalmologic examination results including patient history, visual acuity (VA), slit-lamp examination, fundoscopic examination, operation notes and bacterial culture results were recorded for all patients. The orbital CT images were performed with multidetector CT scanners with a 2-3.75 mm slice thickness. RESULTS: This study found 18 patients (90%) with only one IOFB on CT image, in which only nine IOFBs were discovered on clinical assessment. The CT image failed to discover the IOFB in two patients who had tiny iron dust fragments located in the cornea stroma or embedded in the lens. Preoperative determination of the IOFB size and location was helpful in the decision-making of the route of extraction. Further, there was a correlation between clinical presentation about vitreous hemorrhage and the development of postoperative retinal detachment (Fisher's exact test, p = 0.029). The presence of positive bacterial cultures was also found to be associated with decreased VA (Fisher's exact test, p = 0.047). The injured eyes were anatomically preserved in all patients. However, two patients had loss of light perception. Eleven patients (55%) had improved VA of more than two lines on Snellen's chart, seven patients worsened, and two patients retained the same initial VA. CONCLUSION: Multidetector CT plays an important role in the detection, localization, size measurement, and surgical approach towards the extraction of the IOFB. The presence of vitreous hemorrhage is a predictive factor for postoperative retinal detachment, and positive bacterial cultures result in poorer visual outcomes.