June 9, 2024

Refsum Disease

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 […]

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Case Presentation

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)

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takayasu arteritis

Takayasu Arteritis – pulseless disease

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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