86 terms

Eponymous Syndromes

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Alice in Wonderland syndrome
Altered perception in size and shape of body parts or objects.
Seen in epilepsy, migraine and cerebral lesions.
Arnold-Chiari malformation
Malformed cerebellar tonsils and medulla herniation throughg the foramen magnum.
Presents early adulthood.
May cause hydrocephalous, optic atrophy, occular palsies and spastic paralysis.
Baker's cyst
Fluid from a knee effusion escapes to form a popliteal cyst in the subgastronaemius bursae.
Bazin's disease
Erythema induratum.
Localised areas of fat necrosis that produce painful firm nodules +/- ulceration and an indurated rash, characteristically on adolescent girls' calves.
TB associated.
Behcet's disease
A systemic inflammatory disorder of unknown cause, common along the silk road.
HLA-B5.
Recurrent oral and genital ulceration, erythema nodosum, arthirits, thrombophelbitis, vasculitis, myo/pericarditis, pyramidal signs and colitis.
Dx is clinical or skin prick test leading to papule formation <48hrs.
Berger's disease
IgA nephropathy.
Bickerstaff's brainstem encephalitis
Opthalmoplegia, ataxia, areflexia, and extensor plantars +/- tetraplegia +/- coma and a reversible brain death picture.
MRI hyperintense brainstem signals.
GQ1b antibodies.
Barret's oesophagus
Squamous to metaplastic columnar of lower oesophagus.
Brugada syndrome
AD
Faulty Na channels predisposes patient to fatal arrythmias.
E.g VF in young males.
Rx ICD
Brown-Sequard syndrome
Hemisection/ unilateral cord lesion.
Contralateral loss of pain and T'C.
Ipsilateral loss of proprioception and vibration, spastic paraparesis and brisk reflexes. (UMN lesion)
Budd-Chiari Syndrome
Hepatic vein obstruction by either thrombosis or tumour.
Causes congestive ischemia and hepatocellular damage.
Sx Abdo pain, ascites and hepatomegaly.
ALT up.
Beuger's disease
Thromboangiitis obliterans.
Non-atherosclerotic smoking-related inflammation and thrombosis of middle-sized arteries leading to thrombophlebitis and ischemia (ulcers and gangrene).
Idiopathic.
Caplan's syndrome
Multiple lung nodules in coal workers with RA.
Caused by inflammatory reaction to anthracite.
Charcot-Marie-Tooth syndrome
Peroneal muscluar atrophy.
AD neuropathy presents in puberty with weak legs and foot drop with variable loss of sensation and reflexes.
Churg-Strauss syndrome
Triad of adult-onset asthma, eosinphillia and vasculitis (vasospasm, MI, DVT).
Septic shock picture/ Systemic inflammatory response syndrome may occur.
Creutzfeldt-Jakob disease
Prion.
A misfolded form of PrPc leads to degenerative neurological disease, fatal, incurable.
Termed 'mad cow disease' due to bovine spongiform encephalopathy.
Crigler-Najjar syndrome
Inherited unconjugated hyperbillirubinaemia presenting in the 1st days of life.
Mutated UGT enzyme or inability to excrete billirubin.
If UGT, requires transplant before irreversible kernicterus develops.
Devic's syndrome
Neuromyelitis optica.
Inflammatory demyelination attacks of optic neuritis +/- myelitis.

More severe than MS, MRI normal, no oligoclonal bands.
Dressler's syndrome
2-10wks post MI or heart surgery.
Myocardial injury stimulates formation of autoantibodies against heart muscle.
Dubin-Johnson syndrome
AR
Defective hepatocyte excretion of conjugated bilirubin.
Presents in teens with intermittent jaundice and hepatomegaly.
Dupuytren's Contracture
Progressive shortening and thickening of the palmar fascia causing finger contracture and loss of extension of 5th finger.
Ekbom's syndrome
Restless legs.
Fabry disease
X-linked lysosomal storage disorder.
alpha-galactosidase deficiency.
Accumulation of glycosphingolipids skin, eyes, heart, kidneys etc.
Most males die 60s in ESRF.
Fanconi Anaemia
AR
Defective stem cell repair and chromosonal fragility leads to aplastic anaemia.
Risk of AML.
Felty's syndrome
Triad of RA +WCC down+ splenomegaly.
Fitz-Hugh-Curtis syndrome
Liver capsule inflammation due to transabdominal spread of chlamydial or gonococcal PID.
Foster Kennedy syndrome
Optic atrophy of one eye due to optic nerve compression.
Often due to olfactory groove menningioma.
Friedreich's ataxia
AR
Trinucelotide expansion GAA in X25 gene.
Causes degeneration of spinocerebellar tracts.
Froin's syndrome
CSF protein up + xanthochromia.
Normal cell count.
A sign of blockage in spinal CSF flow E.g spinal tumour.
Gardner's syndrome
AD
FAP familial adenomatous polyposis, APC gene mutation (5q21).
Polyps inevitably become malignant.
Gelineau's syndrome
Narcolepsy
Gilbert's syndrome
UDPGT deficiency.
Gilles de la Tourette syndrome
Tourette's.
Tonic, clonic, dystonic or phonic tics.
Goodpasteure's disease
Pulmonary-renal syndrome.
Acute GN and haemoptysis.
Anti-GBM.
Guillain-Barre syndrome
Acute inflammatory demyelinating polyneuropathy.
Henoch-Schonlein Purpura
Small vessel vasculitis, presenting with purpura (non blanching purple papules due to intradermal bleeding) often over buttocks and extensors.
Young males.
GN, arthiritis and abdominal pain.
Horner's syndrome
Triad of miosis (constriction), partial ptosis +enopthalmos (sunken) and anhidrosis (ipsilateral loss of sweating).
Interruption of cranial sympathetic supply.
Syringomyelia, pancoast's tumour, demyelination or vasc.
Huntington's disease
AD.
Neurodegenerative condition progresses to chorea dementia and fits.
CAG expansion on chromosome 4.
Jervell and Lange-Nielsen syndrome
AR.
Congenital bilateral sensorineural deafness and long QT interval.
Kaposi's sarcoma
Spindle-cell tumour derived from capillary endothelial cells or fibrous tissue.
Cause by herpes virus.
Presents as purple papules or plaques on skin or mucosa.
Korsakoff's syndrome
Hypothalmic damage and cerebral atrophy due to thiamine (B1) deficiency.
Langerhans cell histiocytosis
Infiltration granulomas containing dendritic cells.
Single (73% bone) or multi organ (27% liver, lung, marrow).
Leriche's syndrome
Saddle embolous at the aortic bifurcation.
Absent femoral pulse, wasting of buttocks, ED.
Loffler's eosinophillic endocarditis
Restrictive cardiomyopathy + eosinophillia.
Early sign of tropical endomyocardial fibrosis.
Loffler's syndrome
Pulmonary eosinophillia.
An allergic infiltration of lungs by eosinophils due to allergens.
Lown-Ganong-Levine syndrome
A pre-excitation syndrome similar to WPW.
McArdles glycogen storage disease
AR
Absence of muscle phosphorylation enzyme with inability to convert glycogen to glucose.
Fatigue and cramps +/- hypothermia.
Rhabdomylosis follows exercise.
Mallory-Weiss tear
Persistent vomiting causes an oesophageal mucosal tear.
Marchiafava-Bignami syndrome
Demyelination and necrosis of corpus callosum, often secondary to alcoholism.
Marchiafava-Micheli syndrome
Paroxysmal nocturnal haemaglobinuria.
Due to haemolysis during the day and concentrated urine at night.
Marfan's syndrome
AD
Fibrillin gene FBN1.
Meckel's diverticulum
Distal ileum contains embryonic remnants of gastric and pancreatic tissue. There may be gastric secretion causing GI pain and occult bleeding.
Meigs' syndrome
A triad of:
Benign ovarian fibroma
Pleural effusion
Ascites

Resolves on tumor resection.
Menetrier's disease
Giant gastric mucosal folds up to 4cm high in the fundus with atrophy of the glands.
Meyer-Betz syndrome
Paroxysmal myoglobinuria.
Rare idiopathic condition causes necrosis of exercising muscles, where urine turns pink-brown.
Mikulicz's syndrome
Benign persistent swelling of lacrimal and parotid glands due to lypmhocytic invasion.
Rule of sarcoid, TB etc.
Milroy disease
AD
Primary congenital lymphoedema
Munchausen's syndrome
Vivid liars who are addicted to institutions, flitting from hospital to hospital feigning illness. E.g hoping for a laporotomy.
Ogilvie's syndrome
Acute colonic pseudo-obstruction.
Colonic obstruction in the absence of a mechanical cause, associated with recent surgery or severe illness.
Ortner's cardiovocal syndrome
Recurrent laryngeal nerve palsy from a large LA.
E.g mitral stenosis.
Osler-Weber-Rendu syndrome
Hereditary telengectasia.
AD.
Paget's disease of the breast
Intra-epidermal spread of an intraduct cancer.
Pancoast's syndrome
Apical lung cancer invades the sympathetic plexus in the neck.
Ipsilateral Horner's and brachial plexus pain and hoarse voice.
Parinaud's syndrome
Dorsal midbrain syndrome.
Upward gaze palsy and bilateral papillodema.
Tumours, stroke and MS.
Peutz-Jeghers' syndrome
AD
STK11 mutation in TSG.
Hamartous GI polyps.
GI ca risk up 15x.
Pott's syndrome
Spinal TB.
Rare in West.
Usually from external source e.g lungs.
Prinzmetal's angina
Coronary artery spasm.
Raynaud's syndrome
Peripheral digital ischemia due to paroxysmal vasospasm.
Romano-Ward syndrome
AD
Mutation in K channel subunit causes long QT syndrome.
VT, VF, torsades +/- sudden death.
Sister Mary Joseph Nodule
An external umbilical metastatic nodule from an internal abdominal malignancy.
Sjogren's syndrome
Dry disease.
Lymphocytic infiltration and fibrosis of exocrine glands.
Anti-Ro Anti-La.
Stevens-Johnson syndrome
A severe form of erythema multiforme and a variant of toxic epidermal necrolysis.
Usually a hypersensitivity reaction to drugs.
Takayasu's arteritis
Aortic arch syndrome; pulseless disease.
Local to Japan.
Systemic vasculitis affects the aorta and its major branches.
Granulomatous.
Tietze's syndrome
Idiopathic costochondritis.
Localised tenderness at the costosternal junction.
NSAIDS.
Todd's palsy
Transient neurological defict (paresis) after a siezure.
Vincent's angina
Necrotizing ulcerative gingivitis.
Mouth infection with ulcerative gingivitis.
Von Hippel-Lindau syndrome
AD.
Germline mutation in TSG.
Predisposed to bilateral renal cysts with risk or carcinoma.
Retinal and cerebellar haemangioblastoma.
Phaeochromocytoma.
VWD Von Willebrand's disease
vWF binds platelets to endothelium, binds platelet to platelet and carries factor VIII.
3 Types:
Deficiency
Abnormal
Undetectable levels.

Haemophillic disorder. APTT up.
Wallenberg's lateral medullary syndrome
Lesions to multiple CNS nuclei due to posterior or inferior cerebellar artery occlusions.
Dysphagia, dysarthria IX, X nuclei.
Vertigo etc vestibular nucleus.
Ataxia, Inferior cerebellar peduncle.
Pain and T'C ipsilateral, V nucleus or contralateral spinothalmic tract.
Waterhouse-Friedrichsen's syndrome
Bilaterla adrenal cortex haemorrhage often occuring rapidly deteriorating meningococcal sepsis.
Weber's syndrome
Superior alternating hemiplegia.
Ipsilateral occulomotor nerve palsy with contralateral hemiplegia.
Due to infarction of the midbrain, after occlusion of the paramedian branches.
Wegner's granulomatosis
Granulomatosis with polyangiitis.
Necrotizing granulomatour inflammation and vasculitis in the lungs and kindeys.

Saddle nose.
RPGN.
Haemoptysis.
ANCA positive
Wernicke's encephalopathy
Thiamine (B1) deficiency with triad of confusion, ataxia and opthalmoplegia.
Chronic alcoholism, eating disorders and malnutrition.
Whipple's disease
Tropheryma whippelii.
PAS +ve macrophages.

Insidious with arthralgia. Colicky, diarrhoea and wt loss.
Zellweger syndrome
Cerebrohepatorenal syndrome.
AR
Rare disorder of absent peroxisomes.
Zollinger-Ellison syndrome
Gastrinoma.
Gastrin excites excessive acid production. Ulceration etc.