• Eponymous Syndromes M-R

    by  • 23/10/2013 • Eponymous Syndromes

    • McArdle’s glycogen storage disease (type V)
    • Mallory-Weiss tear
    • Marchiafava-Bignami syndrome
    • Marchiafava-Micheli syndrome
    • Marfan’s syndrome
    • Meckel’s diverticulum
    • Meig’s syndrome
    • Menetrier’s syndrome
    • Meyer-Betz syndrome
    • Mikulicz’s syndrome
    • Milroy’s syndrome
    • Munchausen’s syndrome
    • Ortner’s cardiovocal syndrome
    • Osler-Weber-Rendu syndrome
    • Paget’s disease of the breast
    • Pancoast’s syndrome
    • Parinaud’s syndrome
    • Peutz-Jegher’s syndrome
    • Peyronie’s disease
    • Pott’s syndrome
    • Prinzmetal (variant) angina
    • Raynaud’s phenomenon
    • Refsum’s syndrome
    • Romano-Ward syndrome
    • Rotor syndrome 

    McArdle’s glycogen storage disease (type V):

    1. Autosomal recessive pure myopathy caused by absence of glycolytic enzymes (R50X mutation in PYGM gene)
    2. p/c: fatigue, crisis of cramps and hyperthermia, rhabdomyolysis/myoglobinuria follow exercise
    3. Ix: raised CK, muscle biopsy is diagnostic
    4. Tx: moderate aerobic exercise, avoid heavy exertion, avoid statins, sucrose ~37g pre-workout may help. Creatinine ~60mg/kg/d may help

     

    Mallory-Weiss tear:

    1. Oesophageal tear due to excessive vomiting – leads to haematemesis

     

    Marchiafava-Bignami syndrome:

    1. Alcohol induced corpus callosum necrosis (+/- extra-pontine, myelinolysis), leading to L-hand deficient of constructional ability, agraphia, mutism, ataxia, porr bimanual coordination, gaze apraxia/pseudohallucinated look, dysarthria, epilepsy, paucity of vocal and facial expressions, reduced consciousness
    2. Ix: MRI
    3. Tx: as for Wernicke’s

     

    Marchiafava-Micheli syndrome:

    1. Paroxysmal nocturnal haemoglobinuria (PNH)
    2. Acquired clonal expansion of multipotent stem cell carrying somatic mutation in x-linked PIG-A gene.
    3. GPI-anchored proteins are lacking blood cells derived from these mutated stem cells, predisposing to haemolysis, thrombosis, sepsis, marrow failre

     

    Marfan’s syndrome:

    1. Autosomal dominant fibrillin gene (FBN-1) leads to reduced extracellular microfibril formation with poor elastic fibres. 75% have FH.
    1. Characteristic features (req >2 for diagnosis):
    2. Lens dislocation (ectopia lentis)
    3. Aortic dissection or dilation
    4. Dural ectasia
    5. Skeletal features (=arachnodactyly [long spidery fingers], arm span > height, pectus deformity, scoiliosis, pes planus = flat feet), hernia
    6. Minor signs: MVP, high arched palate, joint hypermobility
    7. Clinical diagnosis – caution: Homocystinuria has similar MSK deformities
    8. The danger is aortic dissection. In pregnancy – this risk rises.
    9. Tx: B-blockers can be used to slow dilation of aortic root. Do annual echo’s with elective surgical repair when aorta diameter (>5cm).
      1. o REMINDER of HOMOCYSTINURIA:
      2. o Cystathione beta-synthetase deficiency, autosomal recessive with early vasculopathy
      3. o p/c: Downward lens dislocation, heart rarely effected, mental retardation, recurrent thrombosis, osteoporosis, positive urine cyanide-nitroprusside test, response to pyridoxine.

     

    Meckel’s diverticulum:

    1. Prevalence <2%, located >2 feet from ileoceacal valve and is usually < 2 inches long
    2. Contains gastric and pancreatic tissue – there may be gastric acid secretion = gastric GI pain and bleeding
    3. Ix: radionucleotide scan, laparotomy
    4. Acute inflammation may present like appendicitis

     

    Meig’s syndrome:

    1. Ovarian fibroma or thecoma + ascites +pleural transudate (usually R-side, rarely bloody). Benign.

     

    Menetrier’s syndrome:

    1. Giant gastric mucosal folds up to 4cm high, in the fundus, with atrophy of the glands and increased mucosal thickness and hypochlorhydria and protein-losing gastropathy (hence hypoalbuminaemia and oedema)
    2. Causes: CMV, strep, H.pylori
    3. p/c: weight loss, vomiting, epigastric pain. It is pre-malignant
    4. Tx: H.pylori eradication (high dose PPI+clarithro+amox)
    5. Surgery if intractable symptoms or malignant change

     

    Meyer-Betz syndrome:

    1. Paroxysmal myoglobinuria
    2. Idiopathic condition causes necrosis of exercising muscles = muscle pain, weakness, discoloured urine (pinkbrown): as inc myoglobin in excreted
    3. Acute renal failure can result from myoglobinuria. DIC is associated.
    4. Ix: high WCC/LFTs/LDH/CK/urine myoglobin
    5. Diagnosis: via muscle biopsy. Avoid exertion

     

    Mikulicz’s syndrome:

    1. Diagnostic criteria:
    1. Symmetric, persistent swelling of lacrimal and parotid (or submandibular) glands with exclusion of diseases mimicking these signs (=sarcoidosis, TB, viral, lymphoproliferative disorders)
    2. It is a variant of Sjogren’s syndrome and is usually self-limiting

     

    Milroy’s syndrome:

    1. Autosomal dominant mutations in vascular endothelial growth factor receptor 3 gene (VEGFR-3) (FTL4), causes lymphatic malfunction with asymmetric leg swelling (usually in young girls).
    2. Tx: good foot hygeien, mx comorbid cellulitis

     

    Munchausen’s syndrome:

    1. Vivid liars, addicted to institutions, flit from hospital to hospital, feigning illness – hoping for a laparotomy or mastectomy or they complain of awful bleeding, odd eye movements, curious fits, sexual assaults, throat closings, false asthma, heart attacks.
    2. Munchausen’s-by-proxy entails injury to dependant one by carer/mother to gain medical attention
    3. Ogilvie’s syndrome:
    4. Acute functional (‘pseudo’) colonic obstruction caused by malignant retroperitoneal infiltration, spine fracture, electrolyte imbalance.
    5. Tx: correct U&Es, contrast enema or colonoscopy allows decompression and excludes mechanical causes. Neostigmine can be effective – suggesting parasympathetic suppression to blame

     

    Ortner’s cardiovocal syndrome:

    1. RLN palsy from large L-atrium (caused by MS or aortic dissection)

     

    Osler-Weber-Rendu syndrome:

    1. Hereditary (autosomal dominant) telangiectasia
    2. Located on skin and mucous membranes = epistaxis and GI bleeding.
    3. Associated with pulmonary, hepatic, and cerebral arterio-venous malformations

     

    Paget’s disease of the breast:

    1. Intra-epidermal spread of intra-ductal cancer
    2. Can look like eczema of nipple
    3. Any red, scaly lesion of nipple must be assessed
    4. Tx: biopsy, mastectomy with wide margins and node clearance

     

    Pancoast’s syndrome:

    1. Apical lung cancer
    2. Invades sympathetic plexus in neck
    3. Can = ipsilateral horners, arm pain, RLN palsy, voice hoarseness/bovine cough (due to vocal cord palsy)

     

    Parinaud’s syndrome:

    1. Dorsal midbrain syndrome
    2. Upward gaze palsy, pseudo-Argyll Robertson pupils*
    3. *Argyll Robertson pupils (“AR pupils”) are bilateral small pupils that constrict when the patient focuses on a near object (they “accommodate”), but do not constrict when exposed to bright light. They are a highly specific sign of neurosyphilis.
    1. Causes = hydrocephalus, pineal tumours, stroke.

     

    Peutz-Jegher’s syndrome:

    1. Germline mutations of gene LKB1 cause mucocutaneous dark freckles on lips, oral mucosa, palm, soles +/- GI polyps (=hamartomas: excessive focal overgrowths of normal cells in an organ composed of the same cell type) causing obstruction or bleeds
    2. Malignant change in ~3% – typically duodenal polyps
    3. Tx: local excision

     

    Peyronie’s disease:

    1. Penile angulation
    2. Microtrauma during coitusinflammationfibroblast proliferationpenile plaquefaulty compression of cavernosal vesslespainful ED and angulation
    3. Prevelance 3-9%, >40yo, associated to Dupuytren’s, atheroma, prostatectomy.
    4. Ix: USS
    5. Tx: mx associated depression (in 48%), topical verapamil gel 15%, intralesional IFN-a2b, vit E, tamoxifen, cochicine, RT, lasers, surgery, penile rehab

     

    Pott’s syndrome:

    1. TB of the spine (spread from an extra-spinal source)
    2. p/c: backache, stiffness in all back movements, fever, night sweats, weight loss, vertebral collapse, gibbus (=sharply angles spinal curvature), abscess formation (may lead to cod compression) = paraplegia, bowel and bladder dysfunction
    3. XR = narrow disc spaces, vertebral osteoporosis early leading to destruction and wedging of vertebrae
    4. Abscess formation in lumbar spine may trac down to psoas muscle and erode through through skin
    5. Tx: RIPE

     

    Prinzmetal (variant) angina:

    1. Angina due to coronary artery spasm
    2. ECG = ST elevation
    3. Associated to Circle of Willis occlusion from intimal thickening (=moyamoya disease)
    4. Tx: CCB (NOT b-blockers!)

     

    Raynaud’s phenomenon:

    1. Comprises both Raynaud’s disease (=primary – idiopathic) and Raynaud’s syndrome (=secondary – caused by some other instigating factor)
    2. Secondary causes can include: SLE, scleroderma, CREST, dermatomyositis/polymyositis, RA, b-blockers, hypothyroid, thoracic outlet obstruction, Buerger’s disease, vibration white finger, thrombocytosis, cold agglutin disease, polycythaemia rubra vera, monoclonal gammopathies.
    3. Peripheral digital ischaemia due to vasospasm, precipitated by cold or emotion
    4. Fingers and toes ache and change colour (palebluered)
    5. Prevalence 3-20%, female
    6. Ix: exclude underlying cause
    7. Tx: keep warm, stop smoking, nifedipine 5-20mg/8h po may help. Also losartan, prazosin, fluoxetine may help. Sympathectomy may help in severe disease

     

    Refsum’s syndrome:

     

    1. Autosomal recessive. Phytanic acid accumulates in tissues due to mutation of gene coding for the peroxisomal enzyme phytanoyl-CoA hydroxylase
    2. p/c: polyneuropathy, nerve damage, deafness, night blindness (=retinitis pigmentosa), cerebellar ataxia, ichthyosis (=dry thickened scaly skin), anosmia (=inability to smell), CMP
    3. Ix: plasma phytanic acid levels raised, high CSF protein
    4. Tx: restrict foods containing phytanic acid (animal fates, dairy, green leafies), plasmapheresis in severe symptoms

     

    Romano-Ward syndrome:

    1. Autosomal dominant. Mutation in K channel subunit causing long QT syndrome and episodic VT, VF, torsades de pointes, and sudden death
    2. Jervell-Lange-Nielsen syndromes are similar but cause deafness too.
    3. Causes: MI, ischaemia, MVP, HIV, hypo- kalaemia/calcaemia/magnesium, hypothyroid, hypothermia, organophosphates, quinidine, amiodarone, sotolol, erythromycin, levofloxacin, domperidone, haloperidol… etc…

     

    Rotor syndrome:

    1. Autosomal recessive. Reduced excretion of bilirubin with fluctuating conjugated hyperbilirubinaemia with almost normal liver histology.
    2. Ix: cholescintigraphy (also known as: Hepatobiliary Iminodiacetic Acid HIDA, Paraisopropyl Iminodiacetic Acid PIPIDA, or Diisopropyl Iminodiacetic Acid DISIDA scan) is a nuclear imaging procedure to evaluate the health and function of the gallbladder = ‘absent’ liver 
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