• Eponymous Syndromes S-Z

    by  • 25/10/2013 • Eponymous Syndromes

    • Sister Mary Joseph nodule
    • Sjogren’s syndrome
    • Stevens-Johnson syndrome
    • Sturge-Weber syndrome
    • Takayasu’s arteritis (aka Aortic arch syndrome/pulseless disease)
    • Tietze’s syndrome
    • Todd’s palsy
    • Vincent’s angina
    • Von Hippel-Lindau syndrome:
    • Von Willebrand’s disease (vWD)
    • Wallenberg’s lateral medullary syndrome
    • Waterhouse-Friderichsen’s (WhF) syndrome
    • Weber’s syndrome
    • Wegener’s granulomatosis
    • Wernicke’s encephalopathy
    • Whipple’s disease
    • Zellweger syndrome
    • Zollinger-Ellison syndrome 

    Sister Mary Joseph nodule:

    1. Umbilical metastatic nodule from intra-abdominal malignancy


    Sjogren’s syndrome:

    1. Chronic inflammatory autoimmune disorder
    2. Can be primary (female, onset 4-5th decade) or secondary (associated to other CTDs – RA, SLE, systemic sclerosis)
    3. There is lymphocytic infiltration and fibrosis of exocrine glands, especially lacrimal and salivary glands
    4. p/c: reduced tear production (dry eyes, keratoconjunctivitis sicca), xerostomia (dry mouth, caries), parotid swelling, vaignal dryness, dysparineunia, dry cough, dysphagia, polyarthritis, arthralgia, Raynaud’s, lymphadenopathy, vasculitis, lung/liver/kidney involvement, peripheral neuropathy, myositis, fatigue.
    5. Associated with other autoimmune diseases: thyroid, PBC, autoimmune hep)
    6. Increased risk of non-Hodgkins lymphoma
    7. Ix:
    8. Schirmer’s test (<5mm in 5mins = +ve test)
    9. Rose bengal staining may show keratitis
    10. Anti-Ro (SSA) and anti-La (SSB) antibodies may be present
    11. Rh Factor and ANA may be +ve
    12. There may be hypergammaglobulinaemia
    13. Tx:
    14. Hypromellose (artificial tears)
    15. Frequent drinks, pilocarpine, NSAIDs, hydroxychloroquine (=for arthralgia), immunosuppressants

    Stevens-Johnson Syndrome:

    1. Severe form of erythema multiforme and a variant of toxic epidermal necrolysis
    2. Caused by a hypersensitivity reaction – often to salicylates, sulphonamides, penicillin, barbituates, carbamazepine, phenytoin – but is also seen in infections and cancer
    3. p/c: ulceration of skin and mucosa (mouth, urethra, lungs, conjunctivae), target lesions develop, on palms and soles with blistering in centre. May be a prodromal phase – fever, malaise, arthralgia, myalgia, vomiting, diarrhoea.
    4. Tx: remove precipitants, steroids, cyclosporin and thalidomide may help.
    5. Prog: 5% mortality


    Sturge-Weber syndrome:

    1. Encephalotrigeminal angiomatosis
    2. Portwine stain on face in trigeminal distribution with contralateral focal seizures due to corresponding haemangioma in brain.
    3. There may be glaucoma, hemiplegia, and reduced IQ
    4. Ix: Skull XR = cortical calcification, MRI may show angioma
    5. Tx: laser therapy can remove facial stains and anti-convulsants given for epilepsy


    Takayasu’s arteritis (aka Aortic arch syndrome/pulseless disease):

    1. Rare outside of Japan, affects 20-40yo
    2. Systemic vasculitis affecting the aorta and major branches = causing stenosis and thrombosis
    3. Acute inflammation = dilatation and aneurysms
    4. Aortic arch is often affected = cerebral, ophthal, upper limb symptoms (=inc dizziness, visual changes, weak arm pulses). Systemic features are common: fever, weight loss, malaise, HTN (due to renovascular involvement).
    5. Complications: AV regurg, aortic aneurysm, and dissection, ischaemic stroke, IHD.
    6. Diagnosis: high ESR and CRP, angiography of aorta.
    7. Tx: prednisolone (1mg/kg/day po), methotrexate, cyclosphosphamide. Reduce HTN to reduce risk of stroke. Angioplasty/stenting or CABG for vascular complications


    Tietze’s syndrome:

    1. Idiopathic costochondritis
    2. Localised pain at costosternal junction, enhanced by movement/coughing/sneezing.
    3. 2nd rib most often affected
    4. Diagnostic key – marked localised pain = flinches on prodding
    5. A brave diagnosis to make as it presents in a similar way to chest/cardiac pain!
    6. Tx: analgesia (aspirin, NSAIDs)


    Todd’s palsy:

    1. Limb weakness (hemiplegia) following a seizure
    2. The patient seems to have had a stroke but recovers in <24h


    Vincent’s angina:

    1. Mouth infection with ulcerative gingivitis from Borrelia vincentii (a spirochete) and fusiform bacilli, often affecting young male smokers with poor oral hygiene
    1. Tx: penicillin V 250mg/6h and metronidazole 400mg/8h po with chlorhexadine mouthwashes


    Von Hippel-Lindau syndrome:

    1. Autosomal dominant, germ-line mutation of a tumour suppressor gene on C3p (also implicated in sporadic renal cell cancer)
    2. Mutation predisposes patient to bilateral renal cell cancer, retinal and cerebellar haemangioblastoma, and phaechromocytoma


    Von Willebrand’s disease (vWD):

    1. vWF has 3 roles in clotting:
    2. bring plts into contact with sub-endothelium
    3. make plts bind to each other
    4. to bind FVIII protecting it from destruction in the circulation
    5. There are >22 types of vWD – the commonest are =
    6. Type 1 = autosomal dominant deficiency, reduced levels of vWF
    7. Type 2 = abnormal vWF, lack of high molecular weight multimers
    8. Type 3 = autosomal recessive (with gene deletions), undetectable vWF levels
    9. Type Normandy = impaired vWF-FVIII binding (mutations in FVIII binding domains of vWF) = causes autosomal recessive mimic of haemophilia A
    10. Signs: plt type disorder (=bruising, epistaxis, menorrhagia, inc bleeding post dental surgery
    11. Symptoms are mild in Type 1 and 2
    12. Ix: prolonged APTT/bleeding time, reduced FVIIIc (clotting activity), reduced vWF Ag, INR and plts high
    13. Tx: Vasopressin in mild bleeding: , vWF rich FVIII concentrate in major bleeding. Avoid NSAIDs


    Wallenberg’s lateral medullary syndrome:

    1. Relatively common syndrome comprises lesions to multiple CNS nuclei, caused by posterior and inferior cerebellar artery occlusions leading to brainstem infarction
    2. Features: dysphagia, dysarthria (IX and X nuclei), vertigo, nausea, vomiting, nystagmus (vestibular nucleus), ipsilateral ataxia (inferior cerebellar peduncle), ipsilateral horners syndrome (descending sympathetic fibres), loss of pain and temp sensation on ipsilateral face (V nucleus), and contralateral limbs (spinothalamic tract). There is no limb weakness as the pyramidal tract is unaffected
    3. Rarer = medial medullary syndrome = vertebral or anterior spinal artery occlusion = ipsilateral tongue paralysis (XII nucleus) with contralateral limb weakness and loss of position sense.


    Waterhouse-Friderichsen’s (WhF) syndrome:

    1. Bilateral adrenal cortex haemorrhage often occurring in rapidly deteriorating meningococcal sepsis, alongside widespread purpura, meningitis, coma, and DIC
    2. Exotoxin is a potent initiator of inflammation and coagulation cascades.
    3. Also caused by H.influenzae, pneumococcal, streptococcal, staphylococcal sepsis.
    4. Adrenal failure causes shock, as normal vascular tone requires cortisol to set activity of a- and b- adrenergic receptors, and aldosterone is needed to maintain ECF levels
    5. Tx: ceftriaxone 2-4g/24h IV infusion and hydrocortisone 200mg/4h IV for adrenal support. ICU admission.


    Weber’s syndrome:

    1. Ipsilateral 3rd nerve palsy with contralateral hemiplegia
    1. Due to infarction of one half of midbrain after occlusion of the paramedian branches of the basilar artery


    Wegener’s granulomatosis:

    1. Necrotizing granulomatous inflammation and vasculitis of small and medium vessels – has a predilection for URT, lungs and kidneys
    2. p/c: URTI, nasal obstruction, ulcers, epistaxis, saddle-nose deformity (due to destruction of nasal septum), sinusitis, renal disease (=rapidly progressive GN with crescent formation, proteinuria, haematuria, cough, haemoptysis, skin purpura, nodules, peripheral neuropathy, mononeuritis multiplex, arthritis, arthralgia, ocular involvement (=keratitis, conjunctivitis, scleritis, episcleritis, uveitis, proptosis,
    3. Ix: cANCA wioth a raised PR3 in majority, urinalysis to look for proteinuria/haematuria – if presenr consider renal biopsy. CXR = pulmonary haemorrhage. Sputum cytology = atypical cells that may be confused with bronchial carcinoma
    4. Tx:
    5. Severe disease (creatinine >500umol/L): corticosteroids and cyclophosphamide. Give co-trimoxazole as prophylaxis against PCP and staph consolidation. Consider plasma exchange. Azathioprine and methotrexate used as maintenance therapies


    Wernicke’s encephalopathy:

    1. Thiamine (Vit B1) deficiency
    2. Classical triad: ophthalmoplegia (=nystagmus, lateral rectus or conjugate palsies), ataxia (=wide based gait) and confusion! – very much like being pissed really! Also – memory disturbance, hypotension, hypothermia, reduced consciousness
    3. Always consider diagnosis in alcoholics
    4. Causes: focal areas of brain damage including periaqueductal punctate haemorrhages. Alcoholism, eating disorders, malnutrition, vomiting, GI malignancy, hyperemesis gravidarum,
    5. Ix: RBC transketolase low (rarely done – but useful)
    6. Tx:
    7. Urgent thiamine (pabrinex 2-3 pairs high potency ampules/8h IV over 30mins for up to 7d) to avoid irreversible korsakoff’s syndrome – then convert to oral thiamine. Beware that anaphylaxis may occur so have resus equip available
    8. If coexisting hypoglycaemia – give thiamine before glucose (as wernicke’s can be precipitated by glucose admin to a thiamine deficient patient).


    Whipple’s disease:

    1. Rare cause of GI malabsorption, in middle aged, European, white males
    2. Caused by Tropheryma whippelii – producing a systemic disease
    3. p/c: insidious, arthralgia (=chronic, migratory, seronegative arthropathy affecting peripheral joints), weight loss, diarrhoea, colicky abdo pain, fever, sweats, LNs, skin hyperpigmentation, endocarditis, reversible dementia, ophthalmoplegia, facial myoclonus, hypothalamic syndrome (=hyperphagia, polydipsia, insomnia)
    4. Ix: jejunal biopsy shows stunted villi – and deposition of macrophages in lamina propria containing granules which stain positive for periodic acid-schiff (PAS). Similar cells may be found in infected samples = CSF, LNs, synovial fluid
    5. Tx: Abx which can cross the BBB = IV ceftriaxone (or penicillin + streptomycin for 2 weeks), then oral co-trimoxazole for 1yr.


    Zellweger syndrome:

    1. Cerebrohepatorenal syndrome
    2. Rare, autosomal recessive, characterised by absent peroxisomes (therefore reduced lipid metabolism)
    3. This condition is a severe form of infantile Refsum’s syndrome
    4. p/c: craniofacial abnormalities, severe hypotonia, mental retardation, glaucoma, cataracts, hepatomegaly, renal cysts.
    5. Life expectancy = a few months only


    Zollinger-Ellison syndrome:

    1. Association of peptic ulcers with gastrin secreting adenomas (gastrinoma)
    2. Gastrinmore gastric acidmultiple ulcers in duo and stomach
    3. Adenoma is often in pancreas. Most are sporadic. 20% associated with MEN type 1. 60% are metastatic.
    4. p/c: abdo pain, dyspepsia, diarrhoea/steatorrhoea
    5. Suspect in those with: multiple peptic ulcers, ulcers distal to duodenum, or FH of PU/islet cell or pituitary or parathyroid adenomas
    6. Ix:
    7. Increased fasting gastrin levels (>1000pg/ml)
    8. Use ‘the secretin stimulation test’ in suspected cases with only mildly raised gastrin (100-1000)
    9. If adenoma is hard to find – combination of somatostatin receptor scintigraphy, endoscopic USS and CT used to locate.
    10. Tx:
    11. PPIs (omeprazole start at 60mg/d)
    12. All gastrinomas have malignant potential so surgery is better sooner rather than later. If well differentiated, somatostatin anologues may be 1st line and CT with streptocotozin and doxorubicin/5-FU is 2nd line. Or etoposide and and cisplatin.
    13. Screen all pts for MEN type 1.


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