part 1 - interesting medical facts

Interesting medical Facts

VIJAY ALEXANDERIInd MBBS

1. Osler Weber Rendu syndrome

• Hereditary hemorrhagic telangiectasia

• The major cause of morbidity and mortality due to this disorder lies in the presence of multiorgan arteriovenous malformations (AVMs) and the associated hemorrhage that may accompany them.

2. Polyarteritis nodosa

• Also known as "Panarteritis nodosa, and "Periarteritis nodosa, is a vasculitis of medium-sized arteries.

• Polyarteritis nodosa is also called Kussmaul disease or Kussmaul-Maier disease.

3. Floating-Harbor syndrome

• A genetic condition characterized by the triad of– short stature apparent at birth – expressive language delay, – a triangular face with a prominent

nose and deep-set eyes.

4.Osteopetrosis

• Literally "stone bone", also known as marble bone disease and Albers-Schonberg disease

• Inherited disorder where the bones harden, becoming denser

5.Gullian Barre Syndrome

• Acute inflammatory demyelinating polyneuropathy (AIDP),

• An autoimmune disorder affecting the peripheral nervous system,

• Usually triggered by an acute infectious process.

• It is sometimes called Landry's paralysis.

6.Habba Syndrome

• Chronic diarrhea caused by a dysfunctional gall bladder which produces an abnormal amount of bile.

7.Moyamoya Disease

• Moyamoya syndrome is an inherited disease in which certain arteries in the brain are constricted.

• Blood flow is blocked by the constriction, and also by blood clots (thrombosis)

8.Abarognosis

• Loss of the ability to detect the weight of an object .

• This deficit may be caused by damage to the parietal lobe on the side of the brain opposite of the deficit.

• Loss of the ability to sense weight.

9.Forestier’s Disease

• A form of degenerative arthritis associated with flowing calcification along the sides of the vertebrae of the spine and with inflammation (tendinitis) and calcification of the tendons.

• Because areas of the spine and tendons can become inflamed, NSAIDs can be helpful in relieving both pain and inflammation.

• Forestier disease is also called diffuse idiopathic skeletal hyperostosis (DISH).

10. Fibrodysplasia ossificans progressiva

• (FOP) is an extremely rare disease of the connective tissue.

• A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified when damaged.

11.Sheehan Syndrome

• Also known as postpartum hypopituitarism or postpartum pituitary necrosis, is hypopituitarism, caused by necrosis due to blood loss and hypovolemic shock during and after childbirth.

• Commonly present with inability to lactate after delivery, amenorrhoea etc.

12.Leukodystrophy

• Group of disorders characterized by progressive degeneration of the white matter of the brain.

• Leukodystrophies are caused by imperfect growth or development of the myelin sheath.

13.Alexander Disease

• Alexander disease is a slowly progressing and fatal neurodegenerative disease.

• Mostly affects children, causing developmental delay and changes in physical characteristics.

• Alexander disease belongs to leukodystrophies, a group of diseases which affect growth or development of the myelin sheath.

• The destruction of white matter in the brain is accompanied by the formation of fibrous, eosinophilic deposits known as Rosenthal fibers.

14.Fahr’s Syndrome

• Idiopathic Basal Ganglia Calcification, also known as Fahr disease or Fahr’s Syndrome is a neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex.

• It is a rare degenerative neurological disorder characterized by calcifications and cell loss within the basal ganglia.

15.Churg Strauss Syndrome

• Also known as allergic granulomatosis.

• It is medium and small vessel autoimmune vasculitis, leading to necrosis.

• It involves mainly the blood vessels of the lungs (it begins as a severe type of asthma), gastrointestinal system, and peripheral nerves, but also affects the heart, skin and kidneys.

!7.Lentigenes

• Also called liver spots… Darks spots seen on palm, hands etc due to prolonged exposure

• Same as lentigo

• A benign, acquired brown macule

resembling a freckle except that the border

is usually regular and microscopic

elongation of rete ridges is present, with

increased melanocytes and melanin

pigment in the basal cell layer.

18.Grippe

• Former term for influenza• Derived from french

19.Apoplexy

• Former term for stroke

20.Libman Sack’s Endocarditis

• Non infective type of endocarditis seen in patients with SLE

21.Narcolepsy

• Uncontrolled day time sleepiness caused due to disturbances in sleep wake cycle.

22.Halitosis

• Bad breath is called halitosis• Fruity smell- Diabetes• Fecal Odour- Lower bowel

obstruction.• Ammonia- Renal Failure

23.Idiopathic Telangiectasis

• Also called spider veins.• Thin dilated vessels within the skin

caused by sun damage and certain circulatory disorders.

24.Cellulite

• Cellulite is a topographic skin change that is claimed to occur in most postpubertal females.

• It presents as a modification of skin topography evident by skin dimpling and nodularity in the pelvic region, lower limbs, and abdomen and is caused by the herniation of subcutaneous fat within fibrous connective tissue, leading to a padded or orange peel–like appearance.

25.Agoraphobia

• Anxiety disorder• Fear of public places and open

spaces• Develops as a complication of

recurrent panic attacks.

26. Thanatophobia

• Fear of death

27.Wolff Parkinson White syndrome

• Syndrome of pre-excitation of the ventricles

• Due to presence of accessory bundle of KENT.

• Type of atrio-ventricular re-entrant tachycardia.

• Delta wave seen on ECG- Slurred upstroke of QRS and short PR.

28.Torsades de Pointes

• French term which means twisting of the points

• A type of ventricular tachycardia• Common causes for torsades de

pointes include hypomagnesemia and hypokalemia.

• Sudden death may ensue.

29.Phylctenular Conjunctivitis

• A hypersensitivity reaction of the cornea and conjunctiva to bacterial antigens( primarily staphylococcal…. But TB and chlamydia have also been implicated).

• Small yellow-grey nodules appear on the limbus, cornea and conjunctiva which last for a couple of weeks. Some of these may ulcerate and heal without a scar.

30.Tracheal Tug

• This term refers to the downward displacement of the trachea in some conditions.

• The examiner has to stand behind the patient, bend the patient's neck backwards and grip the cricoid cartilage of the trachea. If tracheal tug is present, then the examiner will feel the pulling down sensation on the trachea during every heart beat or with inspiration depending on the cause of the tracheal tug.

• There are two distinct tracheal tugs described in literature.

• Tracheal Tug (Olivers sign) – Downward displacement of the cricoid cartilage with ventricular contraction – observed in patients with an aortic arch aneurysm

• Tracheal Tug (Campbell’s sign) – Downward dispacement of the thyroid cartilage during inspiration – seen in patients with COPD

31.Pancoast Tumor

• A Pancoast tumor, or superior sulcus tumor is a type of lung cancer defined primarily by its location situated at the top end of either the right or left lung.

• The growing tumor can cause compression of a brachiocephalic vein, subclavian artery, phrenic nerve, recurrent laryngeal nerve, vagus nerve, or, characteristically, compression of a sympathetic ganglion resulting in a range of symptoms known as Horner's syndrome.

32.Post Nasal Drip

• Post-nasal drip (PND) occurs when excessive mucus is produced by the sinuses.

• The excess mucus accumulates in the throat or back of the nose.

• It can be caused by rhinitis (allergic or non-allergic), sinusitis (acute or chronic), laryngopharyngeal acid reflux.

33.Miller Fisher’s syndrome

• A clinical variant of Guillian Barre Syndrome

• Manifests as a descending paralysis, proceeding in the reverse order of the more common form of GBS.

• It usually affects the eye muscles first and presents with the triad of – ophthalmoplegia– ataxia – areflexia.

34.Types of Facies

• Leonine facies- Seen in leprosy…. Characterized by thick skin, thick ear lobes, flattened nasal bridge, and loss of hair over lateral aspect of eyebrows and eyelashes( Madarosis)

• Elfin Facies- Seen in supravalvular aortic stenosis and pulmonary artery stenosis.

35.William’s syndrome

• Also known as Williams–Beuren syn is a rare neuro-developmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7.

• It is characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with unusual language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia

36.Kugelberg Welander Syndrome

• Juvenile spinal muscle atrophy• Spinal muscle dystrophies are a group

inherited disorders characterized by progressive degeneration of the anterior horn cells of the spinal cord.

• Loss of these cells results in a progressive lower motor neuron disease that has no sensory involvement and that is manifested as hypotonia, weakness, and progressive paralysis.

• Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months.

• It is type III SMA.• Type I SMA is Werdnig Hoffman

syndrome

37.Hypokalemic Periodic Paralysis

• A rare channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood.

• Attacks often begin in adolescence and are triggered by strenuous exercise followed by rest, high carbohydrate meals, meals with high sodium content, sudden changes in temperature etc.

• Weakness may be mild and limited to certain muscle groups, or more severe full body paralysis.

• Attacks may last for a few hours or persist for several days. Recovery is usually sudden when it occurs.

39.Nodal Osteoarthritis

• Distal interphalangeal joints- Heberden’s nodes

• Proximal Interphalangeal nodes- Bouchard’s nodes.

40.Causes of a continuous murmur

• Patent ductus arteriosus• Aortopulmonary septal defect• Sytemic or coronary arterio-venous

fistula• Pulmonary arterio-venous fistula• Surgically produced shunts in TOF• Mammary Souffle• Venous hum• Coarctation of the aorta

41.Ramsay Hunt syndrome

• Herpes Zoster of the geniculate ganglion resulting in facial nerve palsy.

42.Secondary Biliary Cirrhosis

• Secondary biliary cirrhosis is a condition that develops because of long-term partial or total obstruction of the large bile ducts outside of the liver.

• When the ducts are damaged, bile builds up in the liver and damages the liver tissue causing the liver to cirrhotic.

43.Liver Melanoma

• Liver melanomas are the result of metastasis or the spreading of a malignant melanoma that originated from non-adjacent tissues or organs.

• When the melanoma started in the liver itself, and is not due from a metastasis, it is called a primary liver melanoma.

44.Hairy Cell Leukemia

• Hairy cell leukemia is an uncommon hematological malignancy characterized by an accumulation of abnormal B lymphocytes.

• It is usually classified as a sub-type of chronic lymphoid leukemia.

• Hairy cells are abnormal white blood cells bearing hair-like projections from the cytoplasm.

• TRAP Stain strongly positive

45.Sitophobia

• A morbid aversion to food.

46.Campbell de Morgan Spots

• Campbell de Morgan Spots are also called cherry angioma or hemangioma.

• They are small red spots that tend to occur in people over the age of 40.

• Campbell de Morgan Spots results from tiny capillaries at the skin’s surface clustering together and dilating.

• Campbell de Morgan Spots are not painful, but some are prone to bleeding when scratched or bruised.

47.Venous Star

• A small red nodule formed by a dilated vein in the skin.

• It is caused by increased venous pressure.

48.Cryptogenic Cirrhosis

• Cryptogenic cirrhosis (cirrhosis due to unidentified causes) is a common reason for liver transplantation.

• Doctors now believe that cryptogenic cirrhosis is due to NASH (nonalcoholic steatohepatitis) caused by long standing obesity, type 2 diabetes, and insulin resistance.

• One important clue that NASH leads to cryptogenic cirrhosis is the finding of a high occurrence of NASH in the new livers of patients undergoing liver transplant for cryptogenic cirrhosis.

• Patients with NASH have a similar risk of developing cirrhosis as patients with long standing infection with hepatitis C virus.

49.Parotid Enlargement in Chronic Alcoholism

• Due to development of alcoholic sialosis• It also involves parotid hypertrophy.• Accumulation of secretory granules which

occupy the cytoplasm of the acinar cells. • The excretory ducts were enlarged and the

epithelium of the striate ducts presented cells with nuclei and cytoplasm of irregular appearance and arrangement.

• A moderate adipose infiltration in the stroma and slight periacinal edema was also observed.

50.Blumberg’s sign

• Blumberg's sign is a sign that is elicited during physical examination in medicine. It is indicative of peritonitis.

• The abdominal wall is compressed slowly and then rapidly released. Presence of pain makes the sign positive.

• It is rebound tenderness.