Chronic Abdominal Myoclonus Controlled with Prednisone Therapy: A Case Report.

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. His extensive neurologic and secondary systematic workup was negative, and he had a limited response to several different medication trials. The patient's abdominal myoclonus, however, was better controlled with the administration of prednisone.

Orbital Lymphoma Masquerading as Euthyroid Orbitopathy.

Thyroid 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. Orbital lymphoma should always be suspected and excluded in all cases of orbital inflammation. Our patient was diagnosed with mucosa-associated lymphoid tissue (MALT) lymphoma at 27 years of age, two years after the diagnosis of euthyroid ophthalmopathy. This case highlights the need to include space-occupying lesions in the differential diagnosis of proptosis and gaze restrictions, even in younger patients.

Birt-Hogg-Dubé Syndrome: Two Patients With Different Initial Presentations.

Birt-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. Patients underwent genetic testing and an FLCN mutation was identified, confirming the diagnosis. Through this case series, we aim to highlight the importance of recognizing key manifestations of BHD whether alone or in combination, followed by genetic testing and counseling and the need for regular follow-ups with surveillance imaging tests to detect renal cancer early on.

Thrombotic Thrombocytopenic Purpura Presentation in an Elderly Gentleman Following COVID Vaccine Circumstances.

Thrombotic 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. Almost 95% of the cases are due to an autoantibody directed against ADAMTS13, and the remaining 5% are due to drugs like ticlopidine, quinine, cyclosporine, gemcitabine, bevacizumab, and certain recreational drugs like ecstasy and cocaine. The familial forms present in infancy or early childhood, but sometimes they can present later in life. Management for acquired forms includes therapeutic plasma exchange and immunosuppressive agents. While for the hereditary forms, the mainstay of treatment is plasma infusion. We present a case of an 80-year-old male with a known medical history of hypertension, type II diabetes mellitus, hyperlipidemia, gout, iron deficiency anemia, and Pfizer-BioNTech COVID-19 (coronavirus disease-19) vaccine administered two weeks before presentation to the ER for evaluation of generalized weakness and malaise. Laboratory findings showed severe anemia with hemoglobin of 4.8 g/dl, platelet count of 48 x 10^3/mcL, elevated lactate dehydrogenase (LDH), decreased haptoglobin, and peripheral smear showing schistocytes. The serum creatinine, total bilirubin, and troponin were elevated. All these findings were raising concern for presumptive diagnosis of TTP, which was confirmed with ADAMTS13 levels less than 10%. TTP was temporarily resolved in 10 days with plasma exchange therapy and high-dose corticosteroids. It is difficult at this time to differentiate vaccine-induced TTP from coincidental TTP presenting soon after vaccination. Further studies would be needed to understand better if this relationship between vaccination and TTP was coincidental or causal.