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 […]
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
Takayasu Arteritis – pulseless disease Read More »
Case Presentation A 35-year-old woman presents with a history of recurrent miscarriages, unexplained deep vein thrombosis (DVT), and a recent stroke. She reports frequent headaches and a persistent rash on her lower legs. Laboratory tests reveal the presence of antiphospholipid antibodies. Overview Antiphospholipid Antibody Syndrome (APLA), also known as Antiphospholipid Syndrome (APS), is an autoimmune
Antiphospholipid Antibody Syndrome (APLA) Read More »
Thrombotic thrombocytopenia(TTP) is a rare but serious blood disorder characterized by the formation of clots in small blood vessels throughout the body. This condition can lead to various complications, including organ damage and severe bleeding due to the low platelet count. What is Thrombotic Thrombocytopenia? Thrombotic thrombocytopenia, often referred to as thrombotic thrombocytopenic purpura (TTP),
What is Thrombotic Thrombocytopenia (TTP)? Read More »
Sickle cell crisis, a severe complication of sickle cell disease, demands immediate medical attention. Clinical Case Presentation of Sickle Cell Crisis a 10-year-old child presented with sudden, severe pain in the legs and arms, accompanied by fever and fatigue. This was preceded by multiple episodes of vomitting and loose stools. The child has a known
Sickle Cell Crisis – How to manage Read More »
Pheochromocytoma; Overview Pheochromocytoma is a rare but potentially life-threatening tumor that arises from the adrenal glands. These tumors can lead to severe health complications if not diagnosed and treated promptly. What is Pheochromocytoma? It is a type of tumor that develops in the adrenal glands, which are small glands located above each kidney. These tumors
Pheochromocytoma – Symptoms, Treatment Read More »
Acute paralysis by hypokalemia; Case presentation: A 58 year old male presented with complaints of 10-12 episodes of vomitting. His was vitally stable. Signs of dehydration were present. He was admitted, and was later complaining of inability to move his legs and was not able to lift his neck up. Detail examination findings: Systemic Examination:
Acute Paralysis due to Hypokalemia Read More »
Fibromuscular Dysplasia (FMD); Overview: Fibromuscular dysplasia (FMD) is a rare but significant vascular disorder affecting arteries, particularly those leading to the kidneys, brain, and other vital organs. This condition involves abnormal cell development in the walls of medium-sized arteries, leading to narrowing, aneurysms, and other complications. What is Fibromuscular Dysplasia(FMD)? Fibromuscular dysplasia is a non-inflammatory,
Fibromuscular Dysplasia : Causes, Symptoms, Treatment Read More »
Lichtenberg figures; Introduction Lightning strikes are powerful natural phenomena that can cause significant damage to anything they touch. One lesser-known effect of lightning strikes is Lichtenberg burns, named after the German physicist Georg Christoph Lichtenberg, who first documented them in the 18th century. What are Lichtenberg figures? Lichtenberg burns, also known as lightning tree scars
Lichtenberg Figures from Lightning Strikes Read More »
Deep Vein Thrombosis (DVT); Overview Deep Vein Thrombosis (DVT) is a serious medical condition characterized by the formation of blood clots within deep veins, typically in the legs. These clots can pose significant health risks if they break loose and travel to vital organs, causing life-threatening complications such as pulmonary embolism. What is Deep Vein
Deep Vein Thrombosis (DVT) : Causes, Symptoms Read More »