- E-ISSN2671-6771
E-ISSN : 2671-6771
Vol.2 No.1
Abstract
Recent advances in magnetic resonance imaging and identification of causative genes led to the recognition of a new group of disorders named neurodegeneration with brain iron accumulation (NBIA). NBIA is a group of inherited disorders characterized by abnormal iron deposition in the brain, usually in the basal ganglia. The disorder shares the clinical features of movement disorders and is accompanied by varying degrees of neuropsychiatric abnormalities. In this review, the causative genes, clinical presentations, neuroimaging features, and pathological findings are summarized.
Abstract
von Willebrand disease (VWD) is a genetic bleeding disorders caused by a deficiency of von Willebrand factor (VWF). Diagnosis or exclusion of VWD is not an easy task for most clinicians. These difficulties in diagnosis or exclusion of VWD may be due to preanalytic, analytical and postanalytic laboratory issues. Analytical systems to diagnose VWD may produce misleading results because of limitations in their dynamic range of measurement and low sensitivity. However, preanalytical issues such as sample collection, processing, and transportation affect the diagnosis of VWD profoundly. We will review here the common preanlytical issues that may impact the laboratory diagnosis of VWD.
Abstract
Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can’t be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of .18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.