ABSTRACT
Merkel cell carcinoma (MCC) is a rare malignant cutaneous tumor primarily located in the head and neck. We report the imaging features of pathologically confirmed MCC in the trunk. On US, MCC showed heterogeneous echogenicity with perpendicular hypoechoic linear bands that resembled "columns of smoke" in the skin and subcutaneous layers as well as prominent vascularity. On MRI, the tumor showed hypointensity on T1-weighted images and hyperintensity on proton density and T2-weighted images with linear low-signal bands in the skin and subcutaneous layers as well as intense enhancement on T1-enhanced images. Although MCC has nonspecific imaging features, these characteristics may be helpful for the early diagnosis of this disease.
ABSTRACT
Adult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing difficulties, and frequent vomiting. The diagnosis of AOAD is frequently proposed based on the findings on MRI. We demonstrate two cases (37-year-old female and 61-year-old female) with characteristic imaging findings and changes in follow-up MRI in patients with AOAD, which were confirmed via glial fibrillary acidic protein (GFAP) mutation analysis. On MRI, the typical tadpole-like brainstem atrophy and periventricular white matter abnormalities were noted. The presumptive diagnoses were made based on the typical MRI appearances and, subsequently, confirmed via GFAP mutation analysis. Follow-up MRI demonstrated the progression of atrophy in the medulla and upper cervical spinal cord. Our report could help raise awareness of characteristic MRI findings of AOAD, thus helping clinicians use GFAP analysis for AOAD diagnosis confirmation.
