• Eponymous Syndromes A-F

    by  • 21/10/2013 • Eponymous Syndromes

    • 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):

    1. Disturbance of ones views of oneself +/- fast-fowarding on intrapsychic time.
    2. Seen in epilepsy, migraine, encephalitis

     

    Arnold-Chiari malformation:

    1. Malformed cerebellar tonsils and medulla = herniate through foramen magnum
    2. p/c: mental retardation, optic atrophy, ocular palsies, spastic paresis, brain stems signs may occur (ataxia, dysphagia, oscillopsia, nystagmus
    3. Diag via MRI

     

    Baker’s cysts:

     

    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

    Froin’s syndrome:

    1. Raised CSF protein and xanthochromia (yellowing of CSF) with normal cell count – indicating blockage in CSF flow in spine 

     

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