Random conditions Flashcards
CREST Syndrome
Limited cutaneous systemic sclerosis Calcinosis Raynauds Phenomenon Esophageal dysmotility Sclerodactyly Telangiectasia (spider veins)
Scleroderma
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
Haemolytic Uraemic Syndrome
Triad of hemolytic anemia (anemia caused by destruction of red blood cells), acute kidney failure (uremia), and a low platelet count (thrombocytopenia)
Sideroblastic anaemia
Anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes
DIC
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
ITP
Bleeding disorder in which the immune system destroys platelets, which are necessary for normal blood clotting.
Myeloma
Malignancy of plasma cells.
Sx- Pain, bone disease, fatigue, anaemia, kidney damage, hypercalcaemia, peripheral neuropathy
Diabetes Insipidus
Decrease ADH - increased excretion water, hypernatraemia
Acute Tubular Necrosis (ATN)
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
Gilberts Syndrome
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.
Crigler-Najjar syndrome
Rare genetic disorder characterized by an inability to properly breakdown and excrete bilirubin from the body leading to severe unconjugated jaundice
CMV
Common virus that infects most people and rarely causes problems. Not good in pregnancy, newborns or those with weakened immunity
Wilsons
Rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain and kayser fleischer rings.
Haemachromatosis
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
Primary billary cholangitis
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)
Pakrinson plus syndromes (4 types)
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
Lateral Medullary Syn. / Wallenberg’s Syn.
x Occlusion of one vertebral A. or PICA x Features: DANVAH Dysphagia Ataxia (ipsilateral) Nystagmus (ipsilateral) Vertigo Anaesthesia Ipsilat facial numbness + absent corneal reflex Contralateral pain loss Horner’s syndrome (ipsilateral)
Millard-Gubler Syndrome: crossed hemiplegia
x Pontine lesions (e.g. infarct)
x Effects: 6th and 7th CN palsy + contralateral hemiplegia
Locked in Syndrome
Pt. is aware and cognitively intact but completely
paralysed except for the eye muscles.
x Causes
Ventral pons infarction: basilar artery
Central potine myelinolysis: rapid correction of
hyponatraemia
Cerebellopontine angle syndrome
x Causes: acoustic neuroma, meningioma, cerebellar
astrocytoma, metastasis (e.g. breast)
x Effects: ipsilat CN 5, 6, 7, 8 palsies + cerebellar signs
Absent corneal reflex
LMN facial palsy
LR palsy
Sensorineural deafness, vertigo, tinnitus
DANISH
Subclavian steal syndrome
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
Anterior Spinal Artery / Beck’s Syndrome
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
Para- / quadri-paresis
Impaired pain and temperature sensation
Preserved touch and proprioception
Fitz Hugh Curtis Syndrome
complication of pelvic inflammatory disease
right upper quadrant pain.
peri-hepatic adhesions.
chlamydia or gonorrhoea.
Kallman Sydnrome
No development secondary sexual characteristics
Deficiency of GnRH
Anosmia
Tumour lysis syndrome
Hyperkalaemia, hypocalcaemia, hyperuricaemia
caused by a high cell turnover
Goodpastures syndrome
Anti-GBM antibodies
pulmonary haemorrhage and rapidly progressive glomerulonephritis
Lichen Planus
purple, pruritic, papular, polygonal rash on flexor surfaces. Wickham’s striae over surface. Oral involvement common
Premature ovarian failure
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
Wolf Parkinson White
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
Idiopathic intracranial HTN
young obese women
Blurred vision and headaches
Mx- Weight loss, Diuretics, repeated lumbar puncture
Acitinic keratoses
Premalignant changes on sun exposed areas
small and crusty lesions
Hyperemesis gravidum
Need - •5% pre-pregnancy weight loss
•dehydration
•electrolyte imbalance
Osler–Weber–Rendu Sydrome
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
Congenital Toxoplasmosis
Choiroretinitis, hydrocephalus and intracranial tram like calacifications
Congenital CMV
Thrmobocytopenia, retinits, hepatosplenomegaly and periventricular calacification
Charcot-Marie-tooth
foot drop, pes cavus, scoliosis and stamping gait
Hereditary condition
Fanconi’s Anaemia
Aplastic anaemia, radiological digit abnormalities, renal malformations, hypogonadism, microcephaly
Ashkenazi jews
Cushings reponse to raised ICP
Increased MAP and bradycardia
Papillary thryoid cancer
Common in young men
suspicious lymphadenopathy
Psammoma calcification on biopsy
Takayasus arteritis
Inflammatory and stenotic disease of the medium and large sized vessels,
young women
General Sx, absent pulses, claudication Sx and BP discrepancies
High ESR
Phaeocytomchroma
Palps, sweating, malignant HTN, weight loss, headaches
Tumour in the adrenal medulla which secretes catechloamines
Plummer-Vinson Syndrome
Difficulty in swallowing, iron deficiency anemia, glossitis, cheilosis and esophageal webs
Peutz jegher syndrome
benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa
enteropathy-associated T cell lymphoma
Lymphoma Sx
associated with coeliac disease - positive TTG
Salt losing nephropathy
Transient post removal of urinary obstruction e.g. kidny stone.
Hyponatraemia and increased urinary sodium,euvolaemic
Compartment syndrome
Clincial diagnosis or measured compartment pressures >30mmHg or
urgent fasciaotomy
Dermatomyositis
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
Lynch Syndrome
- 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
Li-Fraumeni Syndrome
- 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
Gardeners Syndrome
- 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
Cushings Disease
ATCH producing pituitary adenoma
Acute tubular necrosis
worsening renal function, together with muddy brown casts
May be after compartment syndrome (myoglobinuria)
Lambert eaton syndrome
Muscle weakness of limbs
Also paraneoplastic syndrome of small CLC
Homocystinuria
Marfanoid with learning difficulties
Myeloproliferative disorders
RBC - Polycythemia ruba vera
WBC - CML
Platelets - Essential Thrombocythaemia
Fibroblasts - Myelofibrosis
Cyanotic heart disease- 5 Ts
Fallots Tetralogy Transpostition great vessels Tricuspid Atresia Total anomalous pulmonary venous connection Persistent Truncus arteriosa
Waterhouse friedrichson syndrome
Haemorrhage into adrenal
Commonly due to neisseria meningitidis infection
