Neurological and Endocrine Disorders Quiz

Amyotrophic Lateral Sclerosis (ALS)

• ALS, also known as Lou Gehrig's disease, is a progressive neurodegenerative disease affecting motor neurons.
• Symptoms include muscle weakness, twitching, cramps, slurred speech, difficulty swallowing, breathing, and progressive motor loss.
• Cause is unknown, but may involve genetic mutations, environmental factors, and protein misfolding.
• Diagnosis is clinical, supported by EMG, nerve conduction studies, and MRI.
• Treatment includes medications (e.g., riluzole, edaravone) to slow progression and symptomatic therapies (physical, speech therapy, respiratory support).
• There is no cure.

Pheochromocytoma

• Pheochromocytoma is a rare adrenal gland tumor causing excess catecholamine production.
• Symptoms include severe hypertension, headaches, sweating, palpitations, tachycardia, anxiety, and tremors.
• Often sporadic, but linked to genetic conditions (MEN2, Von Hippel-Lindau).
• Diagnosis involves measuring plasma/urine catecholamines and metanephrines, followed by imaging (CT/MRI).
• Treatment: Surgical removal. Preoperative alpha-blockade (e.g., phenoxybenzamine) is crucial to control blood pressure.

Hyperparathyroidism

• Hyperparathyroidism is a condition where one or more parathyroid glands overproduce PTH, causing elevated blood calcium.
• Symptoms include fatigue, depression, weakness, bone pain, kidney stones, and abdominal pain.
• Most often caused by a parathyroid adenoma. Rarely, it's due to hyperplasia or cancer.
• Diagnosis includes elevated calcium and PTH levels, confirmed by imaging to identify the abnormality.
• Treatment involves surgery (parathyroidectomy) or medications (e.g., cinacalcet) to control calcium levels.

Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH)

• SIADH results from excess ADH release, leading to water retention and hyponatremia.
• Symptoms include nausea, headache, confusion, seizures, lethargy (caused by low sodium).
• Frequently linked to malignancies (especially small cell lung cancer), central nervous system disorders, drugs (e.g., SSRIs), and pulmonary diseases.
• Diagnosis involves low serum sodium, low serum osmolality, high urine osmolality, and high urine sodium. It's based on clinical criteria and other exclusions.
• Treatment includes fluid restriction, salt tablets, or hypertonic saline (severe cases), and sometimes vasopressin receptor antagonists (e.g., tolvaptan).

Iron-Deficiency Anemia

• Iron-deficiency anemia is the most common type of anemia, resulting from insufficient iron for hemoglobin production.
• Symptoms include fatigue, weakness, pale skin, dizziness, shortness of breath, and spooned nails.
• Causes include poor diet, blood loss (GI bleeding, menstruation), or malabsorption.
• Diagnosis involves blood tests showing low hemoglobin, ferritin, iron, and elevated TIBC.
• Treatment involves iron supplements (oral or IV), and addressing the underlying blood loss/malabsorption.

Multiple Myeloma

• Multiple myeloma is a plasma cell cancer in the bone marrow. It leads to abnormal antibody production and disrupted blood cell production.
• Symptoms include bone pain, fractures, fatigue, anemia, renal failure, and hypercalcemia.
• Cause is genetic mutations in plasma cells; risk factors include age, family history, and chemical exposure.
• Diagnosis involves blood tests (elevated calcium, abnormal proteins), urine tests (Bence Jones proteins), bone marrow biopsy, and imaging.
• Treatment includes chemotherapy, stem cell transplants, proteasome inhibitors (e.g., bortezomib), immunomodulatory drugs (e.g., lenalidomide), and monoclonal antibodies (e.g., daratumumab).

Von Willebrand Disease (vWD)

• vWD is the most common inherited bleeding disorder, caused by vWF deficiency or dysfunction. vWF is crucial for platelet adhesion & clotting.
• Symptoms include easy bruising, frequent nosebleeds, heavy periods, and prolonged bleeding after injury or surgery.
• Cause is genetic mutations affecting vWF production or function.
• Diagnosis includes low vWF antigen/activity, prolonged bleeding time, and abnormal PT and aPTT tests.
• Treatment includes desmopressin (mild cases) or vWF replacement therapy (severe cases) and sometimes hemophilia-like treatments.

Urinary Calculi (Kidney Stones)

• Kidney stones are hard mineral/salt deposits in the kidneys. They cause pain, obstruction, or infection.
• Symptoms include severe flank pain, hematuria, nausea, vomiting, and painful urination.
• Causes include dehydration, high calcium/uric acid, certain medications, and metabolic disorders.
• Diagnosis involves urinalysis, imaging (CT, ultrasound), and urine cultures.
• Treatment includes hydration, pain management, medications (alpha-blockers, e.g., tamsulosin) to aid stone passage, or lithotripsy/surgical removal for larger stones.

Secondary Hypertension

• Secondary hypertension is high blood pressure with an underlying cause, like kidney disease, hormonal problems, or medications.
• Symptoms are similar to primary hypertension but often more severe or resistant to treatment.
• Causes include primary aldosteronism, pheochromocytoma, hyperthyroidism, obstructive sleep apnea, and chronic kidney disease.
• Diagnosis involves identifying the underlying cause via blood tests, imaging (e.g., abdominal ultrasound, CT, MRI), and specialized tests (e.g., aldosterone-renin ratio).
• Treatment focuses on managing the underlying cause and using antihypertensive medications.

Cystic Fibrosis (CF)

• CF is a genetic disorder affecting the lungs, pancreas, and other organs, resulting in thick mucus production and recurrent infections.
• Symptoms include chronic cough, lung infections, wheezing, difficulty breathing, salty skin, poor growth, and malabsorption.
• Cause is mutations in the CFTR gene, affecting chloride channels causing thick sticky mucus.
• Diagnosis: Sweat chloride test (high chloride), and genetic testing.
• Treatment involves airway clearance, inhaled antibiotics, pancreatic enzyme replacements, and CFTR modulators (e.g., ivacaftor, lumacaftor); lung transplants may be needed.

Bronchiectasis

• Bronchiectasis is a condition where lung airways become damaged and widened, causing chronic infections and airway obstruction.
• Symptoms include chronic cough, sputum production, recurrent chest infections, wheezing, and shortness of breath.
• Cause may include recurrent lung infections, cystic fibrosis, autoimmune diseases, or post-viral infections.
• Diagnosis involves chest X-ray or CT scan showing airway dilation and thickened bronchial walls.
• Treatment includes antibiotics for infections, airway clearance techniques, bronchodilators, and sometimes surgery (localized disease).

Explore the critical aspects of Amyotrophic Lateral Sclerosis (ALS) and Pheochromocytoma in this quiz. Test your knowledge on symptoms, diagnosis, treatment options, and underlying genetic factors of these two complex medical conditions. Perfect for students and health professionals alike!