Overview Refsum disease is a rare genetic disorder that impacts the metabolism of phytanic acid, a type of fat found in certain foods. This metabolic defect leads to the accumulation of phytanic acid in the body, which can cause a variety of symptoms, primarily affecting the nervous system, eyes, skin, and bones. What is Refsum […]
History A 25-year-old woman presents with fatigue, weight loss, and night sweats over the past few months. She reports intermittent fever and muscle pain. Recently, she has noticed diminished pulses in her arms and episodes of dizziness. General Examination Upon general examination, the following findings are noted: Systemic Examination Respiratory System (RS) Cardiovascular System (CVS)
Takayasu arteritis, often referred to as “pulseless disease,” is a rare, systemic inflammatory condition affecting the large and medium-sized arteries. It predominantly occurs in young Asian women and can lead to severe vascular complications if left untreated. Introduction What is Takayasu Arteritis? Takayasu arteritis (TA) is a systemic inflammatory disease that causes damage to the
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Patient History A 58-year-old male with a long-standing history of hypertension and benign prostatic hyperplasia was recently prescribed prazosin. The patient was otherwise compliant with his antihypertensive medications and had no prior history of syncope or orthostatic hypotension. He was instructed to take 1 mg of prazosin at bedtime to minimize potential side effects. Symptoms
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