Terms in this set (86)
Alice in Wonderland syndrome
Altered perception in size and shape of body parts or objects.
Seen in epilepsy, migraine and cerebral lesions.
Malformed cerebellar tonsils and medulla herniation throughg the foramen magnum.
Presents early adulthood.
May cause hydrocephalous, optic atrophy, occular palsies and spastic paralysis.
Fluid from a knee effusion escapes to form a popliteal cyst in the subgastronaemius bursae.
Localised areas of fat necrosis that produce painful firm nodules +/- ulceration and an indurated rash, characteristically on adolescent girls' calves.
A systemic inflammatory disorder of unknown cause, common along the silk road.
Recurrent oral and genital ulceration, erythema nodosum, arthirits, thrombophelbitis, vasculitis, myo/pericarditis, pyramidal signs and colitis.
Dx is clinical or skin prick test leading to papule formation <48hrs.
Bickerstaff's brainstem encephalitis
Opthalmoplegia, ataxia, areflexia, and extensor plantars +/- tetraplegia +/- coma and a reversible brain death picture.
MRI hyperintense brainstem signals.
Squamous to metaplastic columnar of lower oesophagus.
Faulty Na channels predisposes patient to fatal arrythmias.
E.g VF in young males.
Hemisection/ unilateral cord lesion.
Contralateral loss of pain and T'C.
Ipsilateral loss of proprioception and vibration, spastic paraparesis and brisk reflexes. (UMN lesion)
Hepatic vein obstruction by either thrombosis or tumour.
Causes congestive ischemia and hepatocellular damage.
Sx Abdo pain, ascites and hepatomegaly.
Non-atherosclerotic smoking-related inflammation and thrombosis of middle-sized arteries leading to thrombophlebitis and ischemia (ulcers and gangrene).
Multiple lung nodules in coal workers with RA.
Caused by inflammatory reaction to anthracite.
Peroneal muscluar atrophy.
AD neuropathy presents in puberty with weak legs and foot drop with variable loss of sensation and reflexes.
Triad of adult-onset asthma, eosinphillia and vasculitis (vasospasm, MI, DVT).
Septic shock picture/ Systemic inflammatory response syndrome may occur.
A misfolded form of PrPc leads to degenerative neurological disease, fatal, incurable.
Termed 'mad cow disease' due to bovine spongiform encephalopathy.
Inherited unconjugated hyperbillirubinaemia presenting in the 1st days of life.
Mutated UGT enzyme or inability to excrete billirubin.
If UGT, requires transplant before irreversible kernicterus develops.
Inflammatory demyelination attacks of optic neuritis +/- myelitis.
More severe than MS, MRI normal, no oligoclonal bands.
2-10wks post MI or heart surgery.
Myocardial injury stimulates formation of autoantibodies against heart muscle.
Defective hepatocyte excretion of conjugated bilirubin.
Presents in teens with intermittent jaundice and hepatomegaly.
Progressive shortening and thickening of the palmar fascia causing finger contracture and loss of extension of 5th finger.
X-linked lysosomal storage disorder.
Accumulation of glycosphingolipids skin, eyes, heart, kidneys etc.
Most males die 60s in ESRF.
Defective stem cell repair and chromosonal fragility leads to aplastic anaemia.
Risk of AML.
Triad of RA +WCC down+ splenomegaly.
Liver capsule inflammation due to transabdominal spread of chlamydial or gonococcal PID.
Foster Kennedy syndrome
Optic atrophy of one eye due to optic nerve compression.
Often due to olfactory groove menningioma.
Trinucelotide expansion GAA in X25 gene.
Causes degeneration of spinocerebellar tracts.
CSF protein up + xanthochromia.
Normal cell count.
A sign of blockage in spinal CSF flow E.g spinal tumour.
FAP familial adenomatous polyposis, APC gene mutation (5q21).
Polyps inevitably become malignant.
Gilles de la Tourette syndrome
Tonic, clonic, dystonic or phonic tics.
Acute GN and haemoptysis.
Acute inflammatory demyelinating polyneuropathy.
Small vessel vasculitis, presenting with purpura (non blanching purple papules due to intradermal bleeding) often over buttocks and extensors.
GN, arthiritis and abdominal pain.
Triad of miosis (constriction), partial ptosis +enopthalmos (sunken) and anhidrosis (ipsilateral loss of sweating).
Interruption of cranial sympathetic supply.
Syringomyelia, pancoast's tumour, demyelination or vasc.
Neurodegenerative condition progresses to chorea dementia and fits.
CAG expansion on chromosome 4.
Jervell and Lange-Nielsen syndrome
Congenital bilateral sensorineural deafness and long QT interval.
Spindle-cell tumour derived from capillary endothelial cells or fibrous tissue.
Cause by herpes virus.
Presents as purple papules or plaques on skin or mucosa.
Hypothalmic damage and cerebral atrophy due to thiamine (B1) deficiency.
Langerhans cell histiocytosis
Infiltration granulomas containing dendritic cells.
Single (73% bone) or multi organ (27% liver, lung, marrow).
Saddle embolous at the aortic bifurcation.
Absent femoral pulse, wasting of buttocks, ED.
Loffler's eosinophillic endocarditis
Restrictive cardiomyopathy + eosinophillia.
Early sign of tropical endomyocardial fibrosis.
An allergic infiltration of lungs by eosinophils due to allergens.
A pre-excitation syndrome similar to WPW.
McArdles glycogen storage disease
Absence of muscle phosphorylation enzyme with inability to convert glycogen to glucose.
Fatigue and cramps +/- hypothermia.
Rhabdomylosis follows exercise.
Persistent vomiting causes an oesophageal mucosal tear.
Demyelination and necrosis of corpus callosum, often secondary to alcoholism.
Paroxysmal nocturnal haemaglobinuria.
Due to haemolysis during the day and concentrated urine at night.
Fibrillin gene FBN1.
Distal ileum contains embryonic remnants of gastric and pancreatic tissue. There may be gastric secretion causing GI pain and occult bleeding.
A triad of:
Benign ovarian fibroma
Resolves on tumor resection.
Giant gastric mucosal folds up to 4cm high in the fundus with atrophy of the glands.
Rare idiopathic condition causes necrosis of exercising muscles, where urine turns pink-brown.
Benign persistent swelling of lacrimal and parotid glands due to lypmhocytic invasion.
Rule of sarcoid, TB etc.
Primary congenital lymphoedema
Vivid liars who are addicted to institutions, flitting from hospital to hospital feigning illness. E.g hoping for a laporotomy.
Acute colonic pseudo-obstruction.
Colonic obstruction in the absence of a mechanical cause, associated with recent surgery or severe illness.
Ortner's cardiovocal syndrome
Recurrent laryngeal nerve palsy from a large LA.
E.g mitral stenosis.
Paget's disease of the breast
Intra-epidermal spread of an intraduct cancer.
Apical lung cancer invades the sympathetic plexus in the neck.
Ipsilateral Horner's and brachial plexus pain and hoarse voice.
Dorsal midbrain syndrome.
Upward gaze palsy and bilateral papillodema.
Tumours, stroke and MS.
STK11 mutation in TSG.
Hamartous GI polyps.
GI ca risk up 15x.
Rare in West.
Usually from external source e.g lungs.
Coronary artery spasm.
Peripheral digital ischemia due to paroxysmal vasospasm.
Mutation in K channel subunit causes long QT syndrome.
VT, VF, torsades +/- sudden death.
Sister Mary Joseph Nodule
An external umbilical metastatic nodule from an internal abdominal malignancy.
Lymphocytic infiltration and fibrosis of exocrine glands.
A severe form of erythema multiforme and a variant of toxic epidermal necrolysis.
Usually a hypersensitivity reaction to drugs.
Aortic arch syndrome; pulseless disease.
Local to Japan.
Systemic vasculitis affects the aorta and its major branches.
Localised tenderness at the costosternal junction.
Transient neurological defict (paresis) after a siezure.
Necrotizing ulcerative gingivitis.
Mouth infection with ulcerative gingivitis.
Von Hippel-Lindau syndrome
Germline mutation in TSG.
Predisposed to bilateral renal cysts with risk or carcinoma.
Retinal and cerebellar haemangioblastoma.
VWD Von Willebrand's disease
vWF binds platelets to endothelium, binds platelet to platelet and carries factor VIII.
Haemophillic disorder. APTT up.
Wallenberg's lateral medullary syndrome
Lesions to multiple CNS nuclei due to posterior or inferior cerebellar artery occlusions.
Dysphagia, dysarthria IX, X nuclei.
Vertigo etc vestibular nucleus.
Ataxia, Inferior cerebellar peduncle.
Pain and T'C ipsilateral, V nucleus or contralateral spinothalmic tract.
Bilaterla adrenal cortex haemorrhage often occuring rapidly deteriorating meningococcal sepsis.
Superior alternating hemiplegia.
Ipsilateral occulomotor nerve palsy with contralateral hemiplegia.
Due to infarction of the midbrain, after occlusion of the paramedian branches.
Granulomatosis with polyangiitis.
Necrotizing granulomatour inflammation and vasculitis in the lungs and kindeys.
Thiamine (B1) deficiency with triad of confusion, ataxia and opthalmoplegia.
Chronic alcoholism, eating disorders and malnutrition.
PAS +ve macrophages.
Insidious with arthralgia. Colicky, diarrhoea and wt loss.
Rare disorder of absent peroxisomes.
Gastrin excites excessive acid production. Ulceration etc.