1.  Fluid from knee effusion escapes to form a popliteal cysts ina sub-gastrocnemius bursa. If rupture compartment syndrome
2.  Tx: arthroscopic correction + cystectomy/closure of orifice

Barrett’s oesophagus:

1.  In chronic GORD – columnar gastric epithelium extend up replacing normal oesophageal squamous epithelium (i.ei the squamocolumnar junction migrates upwards). These cells can become metaplastic (risk x 40 of oesophageal adenocarcinoma).
2.  Mx: if high grade dysplasia = oesophageal resection, or eradicative mucosectomy
3.  If young and fit = endoscopic targeted mucosectomy or mucosal ablation with epithelial laser radiogrequency (HALO), or photodynamic therapy (PD)
4.  If no pre-malignant fetaures = high dose PPIs

Bazin’s disease:

1.  Localised areas of fat necrosis with ulceration and indurated rash – seen on adolescent girls calves

Behcet’s disease:

1.  Systemic vasculitis associated with HLA-B51, most common in Turkey, Mediterranean and Japan
2.  Recurrent roal and genital ulceration, ocular inflammation (=anterior and posterior uveitis), skin lesions (=erythema nodosum, papulopustular lesions), neurological (=meningitis, encephalitis, CN palsies, confusion), joints (=large joint oligoarthropathy), GI (=diarrhoea, colitis)
3.  Ix: Pathery test
4.  Tx: steroids, ciclosporin, azathioprine, cyclophosphamide. Colchicine for ulceration.

Berger’s disease:

1.  The most common glomerulonephritis causing renal failure
2.  p/c episodic haematuria triggered by viral infections. Deterioration markers = proteinuria, hypoalbuminaemia, haematuria
3.  Genetic abnormalities in glycosylation og IgA
4.  Tx: tonsillectomy – can improve proteinuria and stabalise renal function

Bickerstaff’s brainstem encephalitis (related to Miller-Fisher syndrome):

1.  p/c: ophthalmoplegia, ataxia, areflexia, extensor plantars +/- tetraplegia/coma
2.  Ix: MRI = hyperintense brainstem signals, GQ1b antibodies +ve

Brugada syndrome:

1.  RBBB, and unusual raised ST segment
2.  Genetic condition (SCN5a and R367H mutations) causes faulty sodium channels – predisposing to fatal arrhythmias (VF) in young males. Precipitated by fever.
3.  Families with a sudden adult death syndrome should undergo genetic testing and IV ajmaline test for brugada.
4.  Tx: pacemaker

Brown-sequard syndrome:

1.  Lesion in one half of SC (due to hemi-section or unilateral lesion)

1.  p/c ipsilateral UMN weakness below lesion, spastic paraparesis, brisk reflexes, extensor plantars, ipsilateral loss of vibration and proprioception, contralateral loss of pain and temperature sensation.
2.  Causes: bullet, stab, tumour, disc herniation, MS, cervical spondylosis, neuroschistosomiasis, myelitis, septic emboli.

Budd-Chiari syndrome:

1.  Hepatic vein obstruction (thrombosis/tumour) = ischaemia and hepatocyte damage
2.  p/c: liver failure or insidious cirrhosis, abdo pain, hepatomegaly, ascites, high ALT, portal HTN
3.  Causes: OCP, pregnancy, malignancy, polycythamia rubra vera, thrombophilia,
4.  Ix: USS/Doppler/CT/MRI hepatic vein
5.  Tx: surgical shunt, anticoagulate (lifelong), consider liver transplant if indicated

Buerger’s disease:

1.  Smoking related inflammation of veins, nerves, and middle-sized arteries = thrombose = gangrene
2.  Tx: stop smoking

Caplan’s syndrome:

1.  Multiple lung nodules in coal workers (pneumoconiosis) with rheumatoid arthritis
2.  Ix: CXR = bilateral peripheral nodules, CT and biopsy.
3.  Increased risk if also exposure to silica, asbestos, anthracite

Charcot-Marie-Tooth syndrome:

1.  Starts in puberty with weak legs, foot drop (due to peroneal nerve damage) and variable loss of sensation and reflexes
2.  Peroneal muscles atrophy leading to inverted champagne bottle leg
3.  Atrophy of hand and arm muscles also occur – may respond to surgical nerve release
4.  Most common type – CMT1A (caused by mutations in PMP22 myelin gene on C17)is autosomal dominant
5.  QoL is generally good, total incapacity is rare

Churg-Strauss syndrome

1.  Traid of late onset asthma, eosinophilia, and granulomatous small vessel vasculitis (+/- vasospasm/MI/DVT)
2.  Affecting lungs, nerves, heart, skin
3.  May appear to have septic shock/SIRS
4.  If ANCA +ve – look out for GN/renal failure
5.  Tx: steroids, IFN-alpha

Creutzfeldt-Jakob disease (CJD):

1.  Caused by misfolded prion (PrPSC) which can transform other proteins into prions (hence infectivity)
2.  PrPSC causes spongiform changes (tiny cavities and tubulovesicular structures)
3.  Most cases sporadic, 1-3/mil incidence
4.  Variant CJD: transmitted by meat containing CNS tissue affected by BSE, presents earlier (~30yo), later dementia onset, longer survival, normal EEG, homozygous for met at codon 129 of PRP gene is typical, 10-fold higher CSF tau-pT181/tau protein ratio (compared to sporadic CJD).

1.  Inherited form: Gerstmann-Straussler-Scheinker syndrome = P102L mutation in PRPN gene with ataxia, and self-mutilation.
2.  p/c of CJD generally: progressive dementia, focal CNS palsies, complex visual disturbances, homonymous field defects, hallucinations.
3.  Tx: none – prevention of transmission is key

Crigler-Najjar syndrome:

1.  Inherited cause of unconjugated hyperbilirubinaemia presenting in 1st days of life with jaundice and CNS signs
2.  Cause: mutation leading to abolition of bilirubin UDP-glucuronosyltransferase (UGT) activity
3.  Tx: liver transplant before irreversible kernicterus

Curtis-Fitz-Hugh syndrome:

1.  Inflammation of liver capsule (=perihepatitis) to chlamydial or gonorrhoeal infection often with PID. Pain in RUQ.

Devic’s syndrome:

1.  Inflammatory demyelination causing attacks of optic neuritis and myelitis
2.  Serum NMO-IgG antibody is 65% hel pdinsguish it from classical multiple sclerosis
3.  Tx: steroids, azathioprine
   1. o REMINDER of MAIN FEATURES in MS:
   2. o Relapsing/remitting course
   3. o Cause: discrete plaques of demyelination occur throughout CNS, caused by T-cell mediated response
   4. o p/c: onset 30yo, male, monosymptomatic (=optic neuritis/numbness or tingling in limbs/bs signs/trigeminal neuralgia/ED/urine retention/incontinence
   5. o Attacks are usually mild and progressive
   6. o Respiratory failure is rare
   7. o MRI = many periventricular white matter lesions
   8. o MRI cord lesions = extensive central lesions
   9. o CSF oligoclonal bands = present
   10. o Permanent disability in late progressive disease
   11. o Other autoimmunities are uncommon
   12. o Tx: methylprednisolone 1g/24h/IV, IFN-alpha, monoclonal antibodies.

Dressler’s syndrome:

1.  Develops 2-10 weeks after MI/heart surgery
2.  Myocardial injury stimulates formation of autoantibodies against heart tissue
3.  p/c: recurrent chest pain, fever, pericardial rub, may have tamponade
4.  Tx: aspirin, NSAIDs, steroids

Dubin-Johnson syndrome:

1.  Autosomal recessive disorder causing defective hepatocyte excretion of conjugated bilirubin
2.  p/c intermittent jaundice, pain in RUQ, no hepatomegaly

Dupuytren’s contracture :

1.  Palmar fascia contracts disabling finger (often 5th finger) extension
2.  Nodular thickening of connective tissue over 4th and 5th fingers.
3.  Genetic link (inc risk if positive FH)
4.  Associations: smoking, alcohol use, manual labour, trauma, DM, phenytoin, HIV
5.  Peyronies may coexist
6.  Tx: surgical release

Ekbom’s syndrome:

1.  Restless legs
2.  Criteria: compelling desire to move legs, worse at night, relieved by movement, unpleasant sensations in legs worse on rest.
3.  Due to opioid system fault causing altered central processing of pain
4.  Associations: Fe deficiency, uraemia, DM, pregnancy, polyneuropathy, RA, COPD
5.  Tx: tramadol, dopamine agonists, clonazepam

Fabry disease:

1.  X-linked lysosomal storage disorder caused by abnormalities in GLA gene which leads to deficiencies in alpha-galactosidase A.
2.  Results in accumulation of glycosphingolipids in skin (=angiokeratoma corporis diffusum and hypohidrosis), eyes (=opacities), heart (=angina/MI/syncope, dyspnoea, LVH, conduction defects), kidneys (=renal failure), CNS (=stroke), nerves (=neuropathies/acroparasthesia).
3.  Most die in 5th decade due to renal failure, stroke or MI
4.  Tx: 2-weekly infusions of recombinant human agalsidase alpha and beta.

Fanconi anaemia:

1.  Autosomal recessive HLA-DRB1-04
2.  Defective stem cell repair and chromosome fragility = aplastic anaemia, inc risk of AML, breast cancer (BRCA2 defects), skin pigmentation, absent radii, short stature, microcephaly, syndactyly, deafness, reduced IQ, hypopituitarism, cryptorchidism.
3.  Tx: stem cell transplant

Felty’s syndrome:

1.  RA, low WCC, splenomegaly, signs of hypersplenism (=anaemia, low plts), recurrent infections, skin ulcers, LNs, Rh factor raised.
2.  Tx: splenectomy may raise WCC, DMARDs including rituximab

Foster Kennedy syndrome:

1.  Optic atrophy of one eye with papilloedema of the other eye due to optic nerve compression and raised ICP from a mass lesion (e.g. meningioma, plasmacytoma) on the side of optic atrophy.

Friedreich’s ataxia:

1.  Autosomal recessive , with expansion of trinucleotide repeat GAA in the X25 (frataxin) gene
2.  Degeneration of nerve tracts = cerebellar ataxia, dysarthria, nystagmus, dysdiadochokinesis, weakness, upgoing plantars, depressed tendon reflexes, loss of position and vibration sense. Pes cavus (bowing of leg) and scoliosis occur. CMP may cause CCF.
3.  Age of death 50y