Syndromes & Signs Flashcards
Horners syndrome
When a group of nerves known as the sympathetic trunk is damaged.
Miosis (a constricted pupil)
Partial ptosis (a weak, droopy eyelid)
Apparent anhidrosis (decreased sweating)
with or without enophthalmos (inset eyeball).
Carcinoid syndrome
Carcinoid tumor producing Bradykinin + Serotonin ------> secondary symptoms: Cyanotic flushing Diarrhea Bronchial spasm Edema, ascites.
PEUTZ-JEGHERS SYNDROME:
Autosomal dominant - Polyposis (hamartomas) of small intestine
Also see melanin pigmentation of buccal mucosa and skin around mouth and lips
CONN’S SYNDROME:
Primary Hyperaldosteronism ——> muscular weakness, hypertension, hypokalemia
FELTY’S SYNDROME:
Rheumatoid Arthritis with splenomegaly, leukopenia, anemia, and thrombocytopenia.
YELLOW-NAIL SYNDROME:
Stop growth of nails ——> increased convexity, thickening, and yellowing of nails.
Found in Lymphedema, bronchitis, chronic bronchiectasis.
TIETZE’S SYNDROME:
Costochondritis. Swelling and tenderness of the costal cartilege.
BUDD-CHIARI SYNDROME:
Hepatic vein obstruction –>ischaemia and hepatocyte damage –> liver failure or insidious cirrhosis
ACUTE: Hepatic Vein Thrombosis ——> Massive ascites (SAAG >1.1) and dramatic death.
CHRONIC: Gradual hepatomegaly, portal hypertension, nausea, vomiting, edema, ulimately death.
ZOLLINGER-ELLISON SYNDROME:
Gastrin-secreting tumor in pancreas ——> Severe peptic ulcers, gastric hyperacidity.
BROWN-SEQUARD SYNDROME:
Damage (injury) to half of spinal cord ——> symptoms:
Loss of pain and temperature sensation on contralateral side of body.
Loss of proprioception and discriminatory touch on ipsilateral side of body.
BEHCET’S SYNDROME:
Vasculitis ——> secondary symptoms:
Oral and genital ulcers
Uveitis
Optic atrophy
MEIGS’ SYNDROME:
Fibroma of ovary with ascites and hydrothorax
REITER’s SYNDROME
Associated with STD or gastroenteritis
Arthritis, urethritis, conjunctivitis
Causes of central cyanosis
- Central nervous system (impairing normal ventilation):
Intracranial hemorrhage
Drug overdose (e.g. heroin)
Tonic–clonic seizure (e.g. grand mal seizure)
2. Respiratory system: Pneumonia Bronchiolitis Bronchospasm (e.g. asthma) Pulmonary hypertension Pulmonary embolism Hypoventilation Chronic obstructive pulmonary disease, or COPD (emphysema)
3. Cardiovascular diseases: Congenital heart disease (e.g. Tetralogy of Fallot, right to left shunts in heart or great vessels) Heart failure Valvular heart disease Myocardial infarction
- Blood:
Methemoglobinemia * Note this causes “spurious” cyanosis, in that, since methemoglobin appears blue,[6] the patient can appear cyanosed even in the presence of a normal arterial oxygen level.
Polycythaemia
Congenital cyanosis (HbM Boston) arises from a mutation in the α-codon which results in a change of primary sequence, H → Y. Tyrosine stabilises the Fe(III) form (oxyhaemoglobin) creating a permanent T-state of Hb. - Others:
High altitude, cyanosis may develop in ascents to altitudes >2400 m.
Hypothermia
Obstructive sleep apnea
Causes peripheral cyanosis
All common causes of central cyanosis
Reduced cardiac output (e.g. heart failure, hypovolaemia)
Cold exposure
Arterial obstruction (e.g. peripheral vascular disease, Raynaud phenomenon)
Venous obstruction (e.g. deep vein thrombosis)
Korotkoff sounds
Phase I—The first appearance of faint, repetitive, clear tapping sounds which gradually increase in intensity for at least two consecutive beats is the systolic blood pressure.
Phase II—A brief period may follow during which the sounds soften and acquire a swishing quality.
Phase III—The return of sharper sounds, which become crisper to regain, or even exceed, the intensity of phase I sounds.
Phase IV—The distinct abrupt muffling of sounds, which become soft and blowing in quality.
Phase V—The point at which all sounds finally disappear completely is the diastolic pressure.
PLUMMER-VINSON SYNDROME
characterized by difficulty in swallowing, iron deficiency anemia, glossitis, cheilosis and esophageal web
Treatment with iron supplementation and mechanical widening of the esophagus
DUMPING SYNDROME
Dumping syndrome is a condition where ingested foods pass through the stomach very rapidly and enter the small intestine largely undigested
Riglers sign
air on both sides of bowel wall
Chailaditi’s syndrome/ sign
Rare condition when pain occurs due to transposition of a loop of large intestine (usually transverse colon) in between the diaphragm and the liver, visible on plain abdominal X-ray or chest X-ray.[
Troisier’s sign
Virchow’s node
Courvoisier’s law/ syndrome/ sign
Courvoisier’s law (or Courvoisier syndrome, or Courvoisier’s sign or Courvoisier-Terrier’s sign) states that in the presence of a palpably enlarged gallbladder which is nontender and accompanied with mild painless jaundice, the cause is unlikely to be gallstones.
WHDA syndrome/ VIPoma/ Verner-Morrison
A syndrome characterized by watery diarrhoea, hypokalaemia and achlorhydria
Saint’s triad
Cholelithiasis (gallstones)
Hiatal hernia
Diverticular disease (diverticulosis of colon)[
Gardner’s syndrome
Autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon:
T.O.D.E. -
Thyroid
Osteomas of mandible, skill and long bones
Dental abnormalities: supernumeracy teeth
Epidermal cysts
Familial adenomatous polyposis
Autosomal dominant - APC gene
Hereditary Non-polyposis Colorectal Cancer
Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer) is an autosomal dominant genetic condition that has a high risk of colon cancer[1] as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair. It is a type of cancer syndrome.
Leriche’s Syndrome
Aortoiliac Occlusive Disease: Atherosclerotic occlusion of aorta and iliacs. Triad -
Buttock claudication and wasting
Erectile dysfunction
Absent femoral pulses
Buerger’s disease: Thromboangiitis Obliterans
Recurring progressive inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet –> ulceration and gangrene
Milroy’s syndrome
Milroy’s disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused by congenital abnormalities in the lymphatic system. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy of soft tissues
Wernicke’s encephalopathy
Confusion
Opthalmoplegia
Ataxia
Korsakoff’s
Amnesia –> confabulation
Fanconi’s syndrome
Inadequate reabsorption in the proximal renal tubules of the kidney.
Unhappy triad of O’Donoghue
ACL
MCL
Medial meniscus
Lesague’s sign
Straight leg raise - to determine whether herniated disc (usually L5) - passive, pain between 30 and 70 degrees
Froment’s sign
Flexion of thumb IPJ when trying to hold paper - weak adductor policis
Ulnar paradox
lesion at elbow has less clawing as FDP is paralysed
Pellagra triad
Diarrhoea
Dermatitis
Dementia
(Caused by niacin deficiency)
Reye’s syndrome
Reye’s (Ryes) syndrome is a rare but serious condition that causes swelling in the liver and brain.
Most commonly affects children and teenagers recovering from a viral infection, most commonly the flu or chickenpox.
Signs and symptoms such as confusion, seizures and loss of consciousness require emergency treatment. Early diagnosis and treatment of Reye’s syndrome can save a child’s life.
Aspirin has been linked with Reye’s syndrome, so use caution when giving aspirin to children or teenagers.
Acute Respiratory Distress Syndrome and pathology
ARDS is essentially acute lung inflammation as a result of sepsis, pneumonia, (these two causes account for 60% of cases), trauma or aspiration. It also sometimes results in the case of shock, either through direct ischaemic damage, or as a result of reperfusion damage.
Results from local or systematic inflammatory processes. Cytokines and other inflammatory mediators recruit macrophages and neutrophils to the area
These WC’s then release other inflammatory agents, and there is disruption of the boundary between lung tissue and normal capillaries, leading to ‘leaking’ of blood products (blood / protein etc) into the air spaces.
This process generally occurs throughout the lung tissue
There is reduced lung compliance, and disruption of surfactant leading to collapse of airways