Abdominal myoclonus may manifest as involuntary, repetitive contractions of the abdominal wall due to a variety of neurologic pathologies. There are, however, limited cases reporting abdominal wall myoclonus without any clear neurologic etiologies. Here we present a case of a 72-year-old male with a history of rheumatoid arthritis, asthma, obstructive sleep apnea (OSA), and restless leg syndrome who presented with chronic, involuntary, repetitive contractions of his abdomen without any spinal or extremity involvement.
View Article and Find Full Text PDFThyroid eye disease (TED), also called Graves orbitopathy (GO), is the most common diagnosis of orbital tissue inflammation. It is typically associated with the onset of hyperthyroidism, an autoimmune response to excess amounts of thyroid hormone. However, a visible and palpable lump, strictly unilateral or gross asymmetric eye involvement, non-axial (eccentric) proptosis, a lack of lid retraction or lid lag on downward gaze, or weakened muscle function (suggestive of tendon involvement) are the key features of non-TED mediated ocular involvement, as was found in the case we report here.
View Article and Find Full Text PDFBirt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder caused by germline mutations in the tumor suppressor folliculin gene (FLCN). This condition is characterized by benign skin hamartomas, pulmonary cysts, spontaneous pneumothorax, and an increased risk for developing kidney tumors which range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell, or papillary subtypes. We describe two cases of BHD with different initial presentations.
View Article and Find Full Text PDFThrombotic thrombocytopenic purpura (TTP) is a rare blood disorder that results in the formation of thrombi in the small blood vessels throughout the body. The two primary forms of TTP are acquired and familial forms. The acquired form usually presents in late childhood or adulthood.
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