- Gardner’s syndrome
- Gelineau’s syndrome (narcolepsy)
- Gerstmann’s syndrome
- Gilbert’s syndrome
- Gilles de la Tourette syndrome
- Goodpasture’s disease
- Guillain-Barre syndrome
- Henoch-Schonlein purpura (HSP)
- Horner’s syndrome
- Huntington’s chorea
- Jervell-Lange-Nielsen syndrome
- Kaposi’s sarcoma
- Klippel-Trenaunay syndrome
- Korsakoff’s syndrome
- Leriche’s syndrome
- Loffler’s eosinophilic carditis
- Loffler’s syndrome
- Lown-Ganong-Levine syndrome
- Autosomal dominant
- Variant of familial adenomatous polyposis caused by mutation in the APC gene (5q21)
- 100s of colon polyps, which become malignant before 40yo
- Benign bone sarcomas, epidermal cysts, dermoid tumours, fibromas, neurofibromas
- Fundoscopy = black spots (=congenital hypertrophy of retinal pigment epithelium)
- p/c: 2-70yo, blocked ureters, or bloody diarrhoea
- Tx: subtotal colectomy and removal of polyps may prevent malignancy
Gelineau’s syndrome (narcolepsy):
- Usually young man, succumbs to irresistible attacks of inappropriate sleep and vivid hallucinations, cataplexy (sudden hypotonia) is a diagnostic feature!!, and sleep paralysis (paralysis of speech or ability to move on waking)
- Cause: mutation leads to loss of hypothalamic hypocretin-containing neurons, via autoimmune destruction
- 95% are HLA-DR2 +ve
- Tx: stimulants (methylprednisolone 10-15mg po) – may cause dependence and psychosis. Modafinil ~200mg/d po before noon
- Finger agnosia = inability to identify fingers by name, left/right disorientation, agraphia (inability to write), acalculia (inability to calculate), alexia (inability to read)
- Thought to be linked to a dominant parietal lesion
- A benign condition
- Common cause of unconjugated hyperbilirubinaemia
- Due to bilirubin UDP-glucuronosyl-transferase activity
- Prevalence 1-2%
- Jaundice occurs during illness and bilirubin rises on fasting, liver biopsy is normal.
Gilles de la Tourette syndrome:
- Tonic, clonic, dystonic, or phonic tics
- Commonly include: spitting, nodding, obscene verbal outbursts (coprolalia 20%), or obscene gestures (coprophilia 6%).
- They may be a witty, innovatory, mimicking (echopraxia).. etc..
- Tic paradox: tics are voluntary but often unwanted – and desire to tic stems from sense of relief of the odd sensation that builds up prior to tic and relieved by it. One tic encourages next. Concentration often stops tics
- Age of onset = 6yo, F>M 4>1
- MRI = large L-thalamus
- Thought to be caused by post-streptococcal autoimmune reaction (=’molecular mimicry hypothesis’)
- Tx: haloperidol 1.5mg/8h po, or risperidone , habit reversal training
- Pulmonary renal syndrome
- Acute GN and lung symptoms (=haemoptysis, diffuse pulmonary haemorrhage)
- Caused by anti-glomerular basement membrane (anti-GBM) antibodies – binds kidneys basement membranes and alveolar membranes
- CXR = infiltrates due to pulmonary haemorrhage in lower zones
- Kidney biopsy = crescentric GN
- Tx: immunosuppressive agents and plasmapheresis
- Acute autoimmune inflammatory demyelinating polyneuropathy
- A few weeks post-infection (campylobacter/CMV/mycoplasma/zoster/HIV/EBV/vaccine), a symmetrical ascending muscle weakness starts
- Progressive phase of up to 4 weeks then recovery
- Proximal muscles (trunk/respiratory/CNs) more affected – if respiratory involvement = EMERGENCY! Do FVC every 4 hours, ventilate sooner rather than later
- May have autonomic dysfunction: sweating, tachycardia, arrhthymias.
- Ix: slow nerve conduction studies, CSF protein high (>5.5g/L)
- Tx: IVIG 0.4g/kg/24h for 5d
- Prog: 85% make full recovery, 10% mortality
- Variant of GBS = chronic inflammatory demyelinating polyradiculopathy (=slower onset and slower recovery)
Henoch-Schonlein purpura (HSP)
- Small vessel vasculitides, with purpura (non-blanching purple nodules) on buttocks and extensor surfaces, typically affecting young boys
- There may be GN, joint involvement, abdo pain (+intussusception)
- Pupil constriction (=miosis)
- Sunken eyes (=enophthalmos)
- Ipsilateral loss of sweating (=anhydrosis)
- Due to interruption if the faces sympathetic supply
- Caused by: brainstem (demyelination, vascular disease), cord (syringomyelia), thoracic outlet (pancoast tumour) etc.
- Autosomal dominant, C4.
- Onset in middle age – child of affected parent lives with a 50% chance of being afflicted
- p/c: insidious, progressive, choreairritibilitydementiafitsdeath (within 15 y of diagnosis)
- path: cerebral atrophy with loss of corpus striatum GABA-nergic and cholinergic neurons
- Autosomal recessive
- Aberrant ventricular repolarisation with a long QTc interval = syncope, seizures, torsade de pointes and sudden death. Similar to Romano-Ward syndrome – except JLN also associated to deafness!
- Mutations in K channel subunit may be responsible
- Multicentric neoplasm derived from capillary endothelial cells or from fibrous tissue
- Caused by human herpes virus-8 (HHV-8)
- p/c purple papule, on skin or mucosa, mets to LNs,
- 3 types: 1 = elderly Jewish or Mediterranean, male. 2 = endemic in central Africa – slow growing peripheral lesions, rarely involves other organs, mets to LNs may cause oedema. 3 = in immuncosuppressed pts (HIV, organ recipients)
- In HIV, development of KS = diagnostic of AIDS. Effects mainly homo-/bi-sexual men.
- Lung KS = Dyspnoea and haemoptysis.
- Bowel KS = nausea, abdo pain,
- Tx: optimise HAART (reduced prevalence of KS), RT to skin, CT (e.g. pegylated liposomal doxorubicin +/- interleukin-12).
- Triad of = port wine stain, varicose veins, and limb hypertrophy – due to vascular malformation
- May be genetic – autosomal dominant?
- Reduced ability to acquire new memories
- Occurs after wernicke’s encephalopathy (WE occurs due to thiamine deficiency often in alcoholics)
- Patients relives grief when he is reminded of past bad news. Patient may confabulate to fill in blanks
- Tx: donepezil may have a role
- Langerhans cell histiocytosis (aka histocytosis-x):
- Group of disorders, either single (73% – often bone) or multi-system (21% – often liver, lungs, spleen, marrow), with infiltrating granulomas containing dendritic (Langerhans) cells
- Pulmonary Langerhans cell histiocytosis p/c pneumothorax/pulmonary HTN CXR: nodules, cysts, honeycombing in upper and middle zones
- SEM: birbeck granules on microscopy
- Tx: local excision, steroids, vinblastine +/- etoposide if severe
- Absent femoral pulse, claudication and wasting of buttock and pale cold leg, ED (from aorto-iliac occlusive disease) = saddle embolus at aortic bifurcation.
- Tx: surgery
Lofffler’s eosinophilic carditis:
- Restrictive CMP and eosinophilia (>120 x 109/L).
- It may be an early stage of tropical endomyocardial fibrosis (and overlap with hypereosinophilic syndrome), but is distinct from eosinophilic leukaemia
- p/c: heart failure (75%) MVR (49%), and heart block.
- Tx: suppress eosinophilia = prednisolone and hydroxycaramide and then anti-HF tx may help.
- Pulmonary eosinophilia
- Allergic infiltration of the lungs by eosinophils
- Key allergens: Ascarius lumbricoides, Trichinella spiralis, Fasciola hepatica, Strongyloides, Ankylostoma, Toxocara, Clonorchis sinensis
- Can also be caused by sulphonamides, hydralazine, and nitrofurantoin
- p/c: CXR = diffuse fan shaped shadows, cough, fever, eosinophilia, and larval migrans.
- Tx: steroids
- Pre-excitation syndrome, similar to WPW, characterised by short PR interval (<0.12s), normal QRS (as opposed to delta waves in WPW), and risk of SVT.
- Cause = not known. May be due to paranodal fibres that bypass all or part of the AVN.
- Patient may be aware of intermittent palpitations