Random conditions

Question 1

CREST Syndrome

Answer 1

Limited cutaneous systemic sclerosis
Calcinosis
Raynauds Phenomenon
Esophageal dysmotility
Sclerodactyly
Telangiectasia (spider veins)

Question 2

Scleroderma

Answer 2

Hard, thickened areas of skin and sometimes problems with internal organs and blood vessels. Scleroderma is caused by the immune system attacking the connective tissue

Question 3

Haemolytic Uraemic Syndrome

Answer 3

Triad of hemolytic anemia (anemia caused by destruction of red blood cells), acute kidney failure (uremia), and a low platelet count (thrombocytopenia)

Question 4

Sideroblastic anaemia

Answer 4

Anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes

Question 5

DIC

Answer 5

Small blood clots develop throughout the bloodstream, blocking small blood vessels. The increased clotting depletes the platelets and clotting factors needed to control bleeding, causing excessive bleeding

Question 6

ITP

Answer 6

Bleeding disorder in which the immune system destroys platelets, which are necessary for normal blood clotting.

Question 7

Myeloma

Answer 7

Malignancy of plasma cells.

Sx- Pain, bone disease, fatigue, anaemia, kidney damage, hypercalcaemia, peripheral neuropathy

Question 8

Diabetes Insipidus

Answer 8

Decrease ADH - increased excretion water, hypernatraemia

Question 9

Acute Tubular Necrosis (ATN)

Answer 9

Death of tubular epithelial cells that form the renal tubules of the kidneys. ATN presents with acute kidney injury (AKI) and is one of the most common causes of AKI. Common causes of ATN include low blood pressure and use of nephrotoxic drugs

Question 10

Gilberts Syndrome

Answer 10

Genetic condition with elevated level of unconjugated bilirubin in the bloodstream, but normally has no serious consequences. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic.

Question 11

Crigler-Najjar syndrome

Answer 11

Rare genetic disorder characterized by an inability to properly breakdown and excrete bilirubin from the body leading to severe unconjugated jaundice

Question 12

CMV

Answer 12

Common virus that infects most people and rarely causes problems. Not good in pregnancy, newborns or those with weakened immunity

Question 13

Wilsons

Answer 13

Rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain and kayser fleischer rings.

Question 14

Haemachromatosis

Answer 14

Indicates accumulation of iron in the body from any cause. The most important causes are hereditary haemochromatosis (HHC) and transfusional iron overload
Sx - Permanent suntan, fatigue and polydipsia (DM), painful hands, erectile dysfunction
Ix - Transferrin saturation and ferriten, genetic testing for HFE mutation

Question 15

Primary billary cholangitis

Answer 15

Autoimmune disease of the liver which results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build up in the liver (cholestasis). Can lead to cirrhosis
Sx- Fatigue, itching, jaundice, pathological fractures
Women, Anti-mitochondrial antibodies (AMAs)

Question 16

Pakrinson plus syndromes (4 types)

Answer 16

Multiple system atrophy- Autonomic Dysfunction,cerebellar and pyramidal signs
Progressive supranuclear palsy -speech disturbance, vertical gaze palsy, falls
Corticobasilar degeneration - aphasia, dysarthria,apraxia, alien limb
Lewy body dementia - visual hallucinations, fluctuating cognition

Question 17

Lateral Medullary Syn. / Wallenberg’s Syn.

Answer 17

x Occlusion of one vertebral A. or PICA
x Features: DANVAH
ƒ Dysphagia
ƒ Ataxia (ipsilateral)
ƒ Nystagmus (ipsilateral)
ƒ Vertigo
ƒ Anaesthesia
 Ipsilat facial numbness + absent corneal
reflex
 Contralateral pain loss
ƒ Horner’s syndrome (ipsilateral)

Question 18

Millard-Gubler Syndrome: crossed hemiplegia

Answer 18

x Pontine lesions (e.g. infarct)

x Effects: 6th and 7th CN palsy + contralateral hemiplegia

Question 19

Locked in Syndrome

Answer 19

Pt. is aware and cognitively intact but completely
paralysed except for the eye muscles.
x Causes
ƒ Ventral pons infarction: basilar artery
ƒ Central potine myelinolysis: rapid correction of
hyponatraemia

Question 20

Cerebellopontine angle syndrome

Answer 20

x Causes: acoustic neuroma, meningioma, cerebellar
astrocytoma, metastasis (e.g. breast)
x Effects: ipsilat CN 5, 6, 7, 8 palsies + cerebellar signs
ƒ Absent corneal reflex
ƒ LMN facial palsy
ƒ LR palsy
ƒ Sensorineural deafness, vertigo, tinnitus
ƒ DANISH

Question 21

Subclavian steal syndrome

Answer 21

Subclavian A. stenosis proximal to origin of vertebral A.
may → blood being stolen from this vertebral artery by
retrograde flow.
x Syncope / presyncope or focal neurology on using the
arm.
x BP difference of >20mmHg between arms

Question 22

Anterior Spinal Artery / Beck’s Syndrome

Answer 22

x Infarction of spinal cord in distribution of anterior spinal
artery: ventral 2/3 or cord.
x Causes: Aortic aneurysm dissection or repair
x Effects
ƒ Para- / quadri-paresis
ƒ Impaired pain and temperature sensation
ƒ Preserved touch and proprioception

Question 23

Fitz Hugh Curtis Syndrome

Answer 23

complication of pelvic inflammatory disease
right upper quadrant pain.
peri-hepatic adhesions.
chlamydia or gonorrhoea.

Question 24

Kallman Sydnrome

Answer 24

No development secondary sexual characteristics
Deficiency of GnRH
Anosmia

Question 25

Tumour lysis syndrome

Answer 25

Hyperkalaemia, hypocalcaemia, hyperuricaemia | caused by a high cell turnover

Question 26

Goodpastures syndrome

Answer 26

Anti-GBM antibodies | pulmonary haemorrhage and rapidly progressive glomerulonephritis

Question 27

Lichen Planus

Answer 27

purple, pruritic, papular, polygonal rash on flexor surfaces. Wickham's striae over surface. Oral involvement common

Question 28

Premature ovarian failure

Answer 28

Premature ovarian failure is defined as the onset of menopausal symptoms and elevated gonadotrophin levels before the age of 40 years. ``` Causes •idiopathic - the most common cause •chemotherapy •autoimmune •radiation ```

Question 29

Wolf Parkinson White

Answer 29

``` congenital accessory conducting pathway between the atria and ventricles leading to a atrioventricular re-entry tachycardia (AVRT). Slurred upstroke (delta wave) on ECG Avoid CCB and digoxin as may precipitate VF ```

Question 30

Idiopathic intracranial HTN

Answer 30

young obese women Blurred vision and headaches Mx- Weight loss, Diuretics, repeated lumbar puncture

Question 31

Acitinic keratoses

Answer 31

Premalignant changes on sun exposed areas | small and crusty lesions

Question 32

Hyperemesis gravidum

Answer 32

Need - •5% pre-pregnancy weight loss •dehydration •electrolyte imbalance

Question 33

Osler–Weber–Rendu Sydrome

Answer 33

Hereditary haemorrhagic telangiectasia Rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain Haempotysis and haemetemesis

Question 34

Congenital Toxoplasmosis

Answer 34

Choiroretinitis, hydrocephalus and intracranial tram like calacifications

Question 35

Congenital CMV

Answer 35

Thrmobocytopenia, retinits, hepatosplenomegaly and periventricular calacification

Question 36

Charcot-Marie-tooth

Answer 36

foot drop, pes cavus, scoliosis and stamping gait | Hereditary condition

Question 37

Fanconi's Anaemia

Answer 37

Aplastic anaemia, radiological digit abnormalities, renal malformations, hypogonadism, microcephaly Ashkenazi jews

Question 38

Cushings reponse to raised ICP

Answer 38

Increased MAP and bradycardia

Question 39

Papillary thryoid cancer

Answer 39

Common in young men suspicious lymphadenopathy Psammoma calcification on biopsy

Question 40

Takayasus arteritis

Answer 40

Inflammatory and stenotic disease of the medium and large sized vessels, young women General Sx, absent pulses, claudication Sx and BP discrepancies High ESR

Question 41

Phaeocytomchroma

Answer 41

Palps, sweating, malignant HTN, weight loss, headaches | Tumour in the adrenal medulla which secretes catechloamines

Question 42

Plummer-Vinson Syndrome

Answer 42

Difficulty in swallowing, iron deficiency anemia, glossitis, cheilosis and esophageal webs

Question 43

Peutz jegher syndrome

Answer 43

benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa

Question 44

enteropathy-associated T cell lymphoma

Answer 44

Lymphoma Sx | associated with coeliac disease - positive TTG

Question 45

Salt losing nephropathy

Answer 45

Transient post removal of urinary obstruction e.g. kidny stone. Hyponatraemia and increased urinary sodium,euvolaemic

Question 46

Compartment syndrome

Answer 46

Clincial diagnosis or measured compartment pressures >30mmHg or urgent fasciaotomy

Question 47

Dermatomyositis

Answer 47

Associated with ANA. It presents with symptoms/signs such as proximal muscle weakness, a macular rash over back/shoulders, a violet periorbital rash and red papules over extensor surfaces of the fingers

Question 48

Lynch Syndrome

Answer 48

* Autosomal dominant * Develop colonic cancer and endometrial cancer at young age * 80% of affected individuals will get colonic and/ or endometrial cancer * High risk individuals may be identified using the Amsterdam criteria

Question 49

Li-Fraumeni Syndrome

Answer 49

* Autosomal dominant * Consists of germline mutations to p53 tumour suppressor gene * High incidence of malignancies particularly sarcomas and leukaemias * Diagnosed when: * Individual develops sarcoma under 45 years * First degree relative diagnosed with any cancer below age 45 years and another family member develops malignancy under 45 years or sarcoma at any age

Question 50

Gardeners Syndrome

Answer 50

* Autosomal dominant familial colorectal polyposis * Multiple colonic polyps * Extra colonic diseases include: skull osteoma, thyroid cancer and epidermoid cysts * Desmoid tumours are seen in 15% * Mutation of APC gene located on chromosome 5 * Due to colonic polyps most patients will undergo colectomy to reduce risk of colorectal cancer * Now considered a variant of familial adenomatous polyposis coli

Question 51

Cushings Disease

Answer 51

ATCH producing pituitary adenoma

Question 52

Acute tubular necrosis

Answer 52

worsening renal function, together with muddy brown casts | May be after compartment syndrome (myoglobinuria)

Question 53

Lambert eaton syndrome

Answer 53

Muscle weakness of limbs | Also paraneoplastic syndrome of small CLC

Question 54

Homocystinuria

Answer 54

Marfanoid with learning difficulties

Question 55

Myeloproliferative disorders

Answer 55

RBC - Polycythemia ruba vera WBC - CML Platelets - Essential Thrombocythaemia Fibroblasts - Myelofibrosis

Question 56

Cyanotic heart disease- 5 Ts

Answer 56

``` Fallots Tetralogy Transpostition great vessels Tricuspid Atresia Total anomalous pulmonary venous connection Persistent Truncus arteriosa ```

Question 57

Waterhouse friedrichson syndrome

Answer 57

Haemorrhage into adrenal | Commonly due to neisseria meningitidis infection