- Alice in wonderland syndrome (Todd’s syndrome)
- Arnold-Chiari malformation
- Baker’s cysts
- Barrett’s oesophagus
- Bazin’s disease
- Behcet’s disease
- Berger’s disease
- Bickerstaff’s brainstem encephalitis (related to Miller-Fisher syndrome)
- Brugada syndrome
- Brown-sequard syndrome
- Budd-Chiari syndrome
- Buerger’s disease
- Caplan’s syndrome
- Charcot-Marie-Tooth syndrome
- Churg-Strauss syndrome
- Creutzfeldt-Jakob disease (CJD)
- Crigler-Najjar syndrome
- Curtis-Fitz-Hugh syndrome
- Devic’s syndrome
- Dressler’s syndrome
- Dubin-Johnson syndrome
- Dupuytren’s contracture
- Ekbom’s syndrome
- Fabry disease
- Fanconi anaemia
- Felty’s syndrome
- Foster Kennedy syndrome
- Friedreich’s ataxia
- Froin’s syndrome
Alice in wonderland syndrome (Todd’s syndrome):
- Disturbance of ones views of oneself +/- fast-fowarding on intrapsychic time.
- Seen in epilepsy, migraine, encephalitis
- Malformed cerebellar tonsils and medulla = herniate through foramen magnum
- p/c: mental retardation, optic atrophy, ocular palsies, spastic paresis, brain stems signs may occur (ataxia, dysphagia, oscillopsia, nystagmus
- Diag via MRI
- Fluid from knee effusion escapes to form a popliteal cysts ina sub-gastrocnemius bursa. If rupture compartment syndrome
- Tx: arthroscopic correction + cystectomy/closure of orifice
- 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).
- Mx: if high grade dysplasia = oesophageal resection, or eradicative mucosectomy
- If young and fit = endoscopic targeted mucosectomy or mucosal ablation with epithelial laser radiogrequency (HALO), or photodynamic therapy (PD)
- If no pre-malignant fetaures = high dose PPIs
- Localised areas of fat necrosis with ulceration and indurated rash – seen on adolescent girls calves
- Systemic vasculitis associated with HLA-B51, most common in Turkey, Mediterranean and Japan
- 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)
- Ix: Pathery test
- Tx: steroids, ciclosporin, azathioprine, cyclophosphamide. Colchicine for ulceration.
- The most common glomerulonephritis causing renal failure
- p/c episodic haematuria triggered by viral infections. Deterioration markers = proteinuria, hypoalbuminaemia, haematuria
- Genetic abnormalities in glycosylation og IgA
- Tx: tonsillectomy – can improve proteinuria and stabalise renal function
Bickerstaff’s brainstem encephalitis (related to Miller-Fisher syndrome):
- p/c: ophthalmoplegia, ataxia, areflexia, extensor plantars +/- tetraplegia/coma
- Ix: MRI = hyperintense brainstem signals, GQ1b antibodies +ve
- RBBB, and unusual raised ST segment
- Genetic condition (SCN5a and R367H mutations) causes faulty sodium channels – predisposing to fatal arrhythmias (VF) in young males. Precipitated by fever.
- Families with a sudden adult death syndrome should undergo genetic testing and IV ajmaline test for brugada.
- Tx: pacemaker
- Lesion in one half of SC (due to hemi-section or unilateral lesion)
- 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.
- Causes: bullet, stab, tumour, disc herniation, MS, cervical spondylosis, neuroschistosomiasis, myelitis, septic emboli.
- Hepatic vein obstruction (thrombosis/tumour) = ischaemia and hepatocyte damage
- p/c: liver failure or insidious cirrhosis, abdo pain, hepatomegaly, ascites, high ALT, portal HTN
- Causes: OCP, pregnancy, malignancy, polycythamia rubra vera, thrombophilia,
- Ix: USS/Doppler/CT/MRI hepatic vein
- Tx: surgical shunt, anticoagulate (lifelong), consider liver transplant if indicated
- Smoking related inflammation of veins, nerves, and middle-sized arteries = thrombose = gangrene
- Tx: stop smoking
- Multiple lung nodules in coal workers (pneumoconiosis) with rheumatoid arthritis
- Ix: CXR = bilateral peripheral nodules, CT and biopsy.
- Increased risk if also exposure to silica, asbestos, anthracite
- Starts in puberty with weak legs, foot drop (due to peroneal nerve damage) and variable loss of sensation and reflexes
- Peroneal muscles atrophy leading to inverted champagne bottle leg
- Atrophy of hand and arm muscles also occur – may respond to surgical nerve release
- Most common type – CMT1A (caused by mutations in PMP22 myelin gene on C17)is autosomal dominant
- QoL is generally good, total incapacity is rare
- Traid of late onset asthma, eosinophilia, and granulomatous small vessel vasculitis (+/- vasospasm/MI/DVT)
- Affecting lungs, nerves, heart, skin
- May appear to have septic shock/SIRS
- If ANCA +ve – look out for GN/renal failure
- Tx: steroids, IFN-alpha
Creutzfeldt-Jakob disease (CJD):
- Caused by misfolded prion (PrPSC) which can transform other proteins into prions (hence infectivity)
- PrPSC causes spongiform changes (tiny cavities and tubulovesicular structures)
- Most cases sporadic, 1-3/mil incidence
- 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).
- Inherited form: Gerstmann-Straussler-Scheinker syndrome = P102L mutation in PRPN gene with ataxia, and self-mutilation.
- p/c of CJD generally: progressive dementia, focal CNS palsies, complex visual disturbances, homonymous field defects, hallucinations.
- Tx: none – prevention of transmission is key
- Inherited cause of unconjugated hyperbilirubinaemia presenting in 1st days of life with jaundice and CNS signs
- Cause: mutation leading to abolition of bilirubin UDP-glucuronosyltransferase (UGT) activity
- Tx: liver transplant before irreversible kernicterus
- Inflammation of liver capsule (=perihepatitis) to chlamydial or gonorrhoeal infection often with PID. Pain in RUQ.
- Inflammatory demyelination causing attacks of optic neuritis and myelitis
- Serum NMO-IgG antibody is 65% hel pdinsguish it from classical multiple sclerosis
- Tx: steroids, azathioprine
- o REMINDER of MAIN FEATURES in MS:
- o Relapsing/remitting course
- o Cause: discrete plaques of demyelination occur throughout CNS, caused by T-cell mediated response
- o p/c: onset 30yo, male, monosymptomatic (=optic neuritis/numbness or tingling in limbs/bs signs/trigeminal neuralgia/ED/urine retention/incontinence
- o Attacks are usually mild and progressive
- o Respiratory failure is rare
- o MRI = many periventricular white matter lesions
- o MRI cord lesions = extensive central lesions
- o CSF oligoclonal bands = present
- o Permanent disability in late progressive disease
- o Other autoimmunities are uncommon
- o Tx: methylprednisolone 1g/24h/IV, IFN-alpha, monoclonal antibodies.
- Develops 2-10 weeks after MI/heart surgery
- Myocardial injury stimulates formation of autoantibodies against heart tissue
- p/c: recurrent chest pain, fever, pericardial rub, may have tamponade
- Tx: aspirin, NSAIDs, steroids
- Autosomal recessive disorder causing defective hepatocyte excretion of conjugated bilirubin
- p/c intermittent jaundice, pain in RUQ, no hepatomegaly
Dupuytren’s contracture :
- Palmar fascia contracts disabling finger (often 5th finger) extension
- Nodular thickening of connective tissue over 4th and 5th fingers.
- Genetic link (inc risk if positive FH)
- Associations: smoking, alcohol use, manual labour, trauma, DM, phenytoin, HIV
- Peyronies may coexist
- Tx: surgical release
- Restless legs
- Criteria: compelling desire to move legs, worse at night, relieved by movement, unpleasant sensations in legs worse on rest.
- Due to opioid system fault causing altered central processing of pain
- Associations: Fe deficiency, uraemia, DM, pregnancy, polyneuropathy, RA, COPD
- Tx: tramadol, dopamine agonists, clonazepam
- X-linked lysosomal storage disorder caused by abnormalities in GLA gene which leads to deficiencies in alpha-galactosidase A.
- 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).
- Most die in 5th decade due to renal failure, stroke or MI
- Tx: 2-weekly infusions of recombinant human agalsidase alpha and beta.
- Autosomal recessive HLA-DRB1-04
- 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.
- Tx: stem cell transplant
- RA, low WCC, splenomegaly, signs of hypersplenism (=anaemia, low plts), recurrent infections, skin ulcers, LNs, Rh factor raised.
- Tx: splenectomy may raise WCC, DMARDs including rituximab
Foster Kennedy syndrome:
- 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.
- Autosomal recessive , with expansion of trinucleotide repeat GAA in the X25 (frataxin) gene
- 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.
- Age of death 50y
- Raised CSF protein and xanthochromia (yellowing of CSF) with normal cell count – indicating blockage in CSF flow in spine