Random conditions Flashcards

1
Q

CREST Syndrome

A
Limited cutaneous systemic sclerosis
Calcinosis
Raynauds Phenomenon
Esophageal dysmotility
Sclerodactyly
Telangiectasia (spider veins)
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2
Q

Scleroderma

A

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

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3
Q

Haemolytic Uraemic Syndrome

A

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

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4
Q

Sideroblastic anaemia

A

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

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5
Q

DIC

A

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

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6
Q

ITP

A

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

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7
Q

Myeloma

A

Malignancy of plasma cells.

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

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8
Q

Diabetes Insipidus

A

Decrease ADH - increased excretion water, hypernatraemia

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9
Q

Acute Tubular Necrosis (ATN)

A

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

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10
Q

Gilberts Syndrome

A

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.

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11
Q

Crigler-Najjar syndrome

A

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

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12
Q

CMV

A

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

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13
Q

Wilsons

A

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

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14
Q

Haemachromatosis

A

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

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15
Q

Primary billary cholangitis

A

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)

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16
Q

Pakrinson plus syndromes (4 types)

A

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

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17
Q

Lateral Medullary Syn. / Wallenberg’s Syn.

A
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)
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18
Q

Millard-Gubler Syndrome: crossed hemiplegia

A

x Pontine lesions (e.g. infarct)

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

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19
Q

Locked in Syndrome

A

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

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20
Q

Cerebellopontine angle syndrome

A

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

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21
Q

Subclavian steal syndrome

A

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

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22
Q

Anterior Spinal Artery / Beck’s Syndrome

A

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

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23
Q

Fitz Hugh Curtis Syndrome

A

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

24
Q

Kallman Sydnrome

A

No development secondary sexual characteristics
Deficiency of GnRH
Anosmia

25
Q

Tumour lysis syndrome

A

Hyperkalaemia, hypocalcaemia, hyperuricaemia

caused by a high cell turnover

26
Q

Goodpastures syndrome

A

Anti-GBM antibodies

pulmonary haemorrhage and rapidly progressive glomerulonephritis

27
Q

Lichen Planus

A

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

28
Q

Premature ovarian failure

A

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
29
Q

Wolf Parkinson White

A
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
30
Q

Idiopathic intracranial HTN

A

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

31
Q

Acitinic keratoses

A

Premalignant changes on sun exposed areas

small and crusty lesions

32
Q

Hyperemesis gravidum

A

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

33
Q

Osler–Weber–Rendu Sydrome

A

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

34
Q

Congenital Toxoplasmosis

A

Choiroretinitis, hydrocephalus and intracranial tram like calacifications

35
Q

Congenital CMV

A

Thrmobocytopenia, retinits, hepatosplenomegaly and periventricular calacification

36
Q

Charcot-Marie-tooth

A

foot drop, pes cavus, scoliosis and stamping gait

Hereditary condition

37
Q

Fanconi’s Anaemia

A

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

38
Q

Cushings reponse to raised ICP

A

Increased MAP and bradycardia

39
Q

Papillary thryoid cancer

A

Common in young men
suspicious lymphadenopathy
Psammoma calcification on biopsy

40
Q

Takayasus arteritis

A

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

41
Q

Phaeocytomchroma

A

Palps, sweating, malignant HTN, weight loss, headaches

Tumour in the adrenal medulla which secretes catechloamines

42
Q

Plummer-Vinson Syndrome

A

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

43
Q

Peutz jegher syndrome

A

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

44
Q

enteropathy-associated T cell lymphoma

A

Lymphoma Sx

associated with coeliac disease - positive TTG

45
Q

Salt losing nephropathy

A

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

46
Q

Compartment syndrome

A

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

47
Q

Dermatomyositis

A

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

48
Q

Lynch Syndrome

A
  • 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
49
Q

Li-Fraumeni Syndrome

A
  • 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
50
Q

Gardeners Syndrome

A
  • 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
51
Q

Cushings Disease

A

ATCH producing pituitary adenoma

52
Q

Acute tubular necrosis

A

worsening renal function, together with muddy brown casts

May be after compartment syndrome (myoglobinuria)

53
Q

Lambert eaton syndrome

A

Muscle weakness of limbs

Also paraneoplastic syndrome of small CLC

54
Q

Homocystinuria

A

Marfanoid with learning difficulties

55
Q

Myeloproliferative disorders

A

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

56
Q

Cyanotic heart disease- 5 Ts

A
Fallots Tetralogy
Transpostition great vessels
Tricuspid Atresia
Total anomalous pulmonary venous connection
Persistent Truncus arteriosa
57
Q

Waterhouse friedrichson syndrome

A

Haemorrhage into adrenal

Commonly due to neisseria meningitidis infection